Rheumatology

Question 17.
Answer.
A 3-year-old girl has a 2-week history of high, spiking fevers. Physical examination reveals
bilateral conjunctivitis, cervical adenopathy, and superficial desquamation of her hands and
feet. You suspect Kawasaki syndrome.
Of the following, the laboratory finding that would be MOST likely in this girl is
A.
circulating anticoagulant
B.
microcytic anemia
C.
neutropenia
D.
positive antinuclear antibody
E.
thrombocytosis
Question 83.
Answer.
A 4-year-old boy has a 1-month history of fevers to 39C (102.2F) twice a day accompanied
by a rash. He feels well during his afebrile periods. Physical examination reveals generalized
lymphadenopathy.
Of the following, the MOST common other manifestation of this boy's illness would be
A.
iridocyclitis
B.
joint pain
C.
marked leukocytosis
D.
presence of antinuclear antibodies
E.
presence of rheumatoid factor
Question 164. Answer.
A 7-year-old girl has a 2-month history of generalized weakness and a rash. Findings on
physical examination include a violaceous discoloration of the malar regions, erythematous
papules located over the interphalangeal joints, and nail fold telangiectasias. Proximal muscle
strength is 3/5.
Of the following, the MOST appropriate initial step in evaluating this patient's symptoms is to
obtain a(n)
A.
antinuclear antibody titer
B.
creatine kinase concentration
C.
electromyogram
D.
magnetic resonance image of muscle
E.
muscle biopsy
Question 241. Answer.
A preterm infant delivered at 32 weeks' gestation has thin, soft skin that is hyperextensible;
hypermobile joints; and a cardiac murmur. Echocardiography reveals a floppy mitral valve.
Of the following, the MOST likely etiology of these findings is
A.
cutis laxa
B.
Ehlers-Danlos syndrome
C.
homocystinuria
D.
Marfan syndrome
E.
osteogenesis imperfect
Answers
Critique 17.
Preferred Response: E
[View Question]
Thrombocytosis is one of the most common laboratory features of Kawasaki disease, but the
platelet count usually is normal initially. By the fifth day of illness, 50% of patients have
thrombocytosis, and by day 10, almost all have platelet counts reaching a peak of 650 to 2,000
x 109/L (650,000 to 2,000,000/mm3). The white blood cell count tends to be elevated, peaking
at 7 to 12 days of the illness, with a predominance of segmented neutrophils and immature
neutrophils. Mild-to-moderate normocytic anemia is common, but it does not differ from the
anemia often seen during acute illnesses in children.
Acute-phase reactants, including erythrocyte sedimentation rate, alpha-1-antitrypsin,
and C-reactive proteins, almost always are elevated early in the illness and may remain
elevated for 4 to 6 weeks. However, antinuclear antibody, circulating anticoagulant, and
rheumatoid factor are not present. Hepatic abnormalities are noted in 40% of patients; 10% of
patients have a serum bilirubin greater than 34.2 mcmol/L (2 mg/dL) and an elevated direct

fraction. Transaminases are moderately elevated to more than twice the normal limit in the
first week of illness in 40% of patients. Hydrops of the gallbladder may be noted.
Cerebrospinal fluid pleocytosis is found in approximately 25% of patients, with a typical
mononuclear cell count of 50 to 150 x 106/L (50 to 150/mm3). Protein levels usually are
normal to slightly elevated, while glucose levels are normal.
Sterile pyuria is found in approximately 60% of patients. Some red blood cells may be
present in the urine, but protein is not.
Arthritis also can develop in patients who have Kawasaki disease, with synovial fluid
white blood cell counts frequently greater than 100 x 106/L (100,000/mm3), low glucose
concentrations, and increased protein levels. However, arthritis has become much less
common with the use of intravenous gamma globulin therapy.
All of these laboratory studies are employed simply to provide support for a clinical
diagnosis. There is no specific diagnostic laboratory test for Kawasaki disease.
The single critical study for suspected Kawasaki disease is two-dimensional
echocardiography, which is required to monitor the development of coronary artery
abnormalities. This should be performed at the time of diagnosis, at 2 to 3 weeks, and at 6 to 8
weeks after the onset of the illness. If abnormalities are not detected by this time, additional
follow-up studies are optional. Some centers obtain routine follow-up echocardiograms 1 year
later, but their usefulness has not been proven. If abnormalities are detected, more frequent
studies and monitoring in consultation with a pediatric cardiologist are recommended.
Critique 83.
Preferred Response: C
[View Question]
The patient described in the vignette has the early symptoms of systemic juvenile rheumatoid
arthritis (JRA). Leukocytosis is common in children who have systemic JRA, and strikingly high
counts (30 to 50 x 109/L [30,000 to 50,000/mm3]) may occur. Systemic symptoms can begin
concurrently with arthritis or may precede joint involvement by several months. Joint
symptoms (Figure 83A) commonly are overlooked because of the severity of systemic
symptoms.
High fevers often occur several times a day in an ill-appearing child and can reach or
exceed 39C (102.2F). They are followed by a rapid return to normal temperatures. Patients
usually experience one or two high-fever spikes per day. The fevers are more frequent in the
evening, but can occur in the morning.
Concurrent symptoms include shaking chills and a rash. The rash usually is apparent
when the patient has a fever, but it can appear after defervescence. It consists of small, pale
red macules that often have central clearing and may coalesce. This evanescent rash can
occur anywhere on the body but is found most frequently on the trunk and proximal
extremities. Although it appears most commonly during the febrile periods, heat, pressure, and
emotions also can trigger it.
Patients who have systemic JRA also frequently present with lymphadenopathy and
hepatosplenomegaly. The hepatosplenomegaly may be associated with mild hepatic
dysfunction. Such findings can confuse the diagnosis with malignancies such as lymphoma.
Other common characteristics of systemic JRA include severe anemia, abdominal pain,
pleuritis, or pericarditis. Iridocyclitis is not a common finding in systemic JRA, and affected
patients have no evidence of rheumatoid factor or antinuclear antibodies. These findings are
seen more commonly in young girls presenting at a later age with pauciarticular arthritis.
A few patients who have systemic JRA do not develop arthritis until months or years
after the onset of systemic symptoms. Usually systemic symptoms are self-limited, but
occasionally there may be recurrences. Such recurrences are rare after the patient reaches
adulthood, but the chronic arthritis may persist. The significant morbidity suffered by these
patients is due to chronic joint symptoms.
Critique 164.
Preferred Response: B
[View Question]
Characteristic cutaneous abnormalities (eg, heliotrope [Figure 164A], Gottron papules [Figure
164B], nail fold telangiectasias) and proximal muscle weakness described for the girl in the
vignette are suggestive of dermatomyositis. In addition to skin lesions and muscle weakness,
other diagnostic criteria are elevation of serum muscle enzyme concentrations,
electromyographic (EMG) findings consistent with a myopathy, and typical findings on muscle
biopsy. Diagnosis is considered definite when four criteria are present, probable in the

presence of three, and possible when two criteria exist. Characteristic skin changes always
must be present for diagnosis.
The most appropriate initial step in the evaluation of a child suspected of having
dermatomyositis is to measure levels of enzymes that are released as a result of muscle injury.
The most sensitive indicator of disease activity is creatine kinase, but because muscle enzyme
levels may be variably elevated, it also is useful to measure aldolase, aspartate
aminotransferase, alanine aminotransferase, and lactic dehydrogenase.
Low-titer serum antinuclear antibody levels are common in dermatomyositis, but this is
a nonspecific finding. Although an EMG study will reveal membrane instability and random
fiber destruction in a child who has dermatomyositis, it is a painful procedure and rarely
performed in children. Magnetic resonance imaging is an alternative study that can be used to
confirm the diagnosis and to select appropriate sites for muscle biopsy, but it is not an
appropriate initial diagnostic examination. During disease activity, the signal intensity on T1weighted images of involved muscles is increased because of accumulated extracellular fluid.
The signals return to normal with suppression of disease activity. Muscle biopsy is useful if skin
changes are not typical and muscle enzymes are not clearly elevated. Characteristic findings
include evidence of vasculitis, inflammatory cell infiltrates, focal necrosis and phagocytosis of
muscle fibers, and regeneration.
Critique 241.
Preferred Response: B
[View Question]
Infants who have Ehlers-Danlos syndrome type I, an autosomal dominant (AD) disorder, exhibit
velvety, hyperextensible skin (Figure 241A); joint hypermobility that can lead to dislocation of
the shoulder, hip, elbow, knee, or clavicle; easy bruisability; and cardiac abnormalities (eg,
mitral valve prolapse). Delayed wound healing and prolonged bleeding due to blood vessel
friability are also common. The pregnancy is often complicated by premature rupture of the
membranes. Affected women are predisposed to postpartum hemorrhage, and all affected
patients must be aware of the increased risk for prolonged bleeding after trauma or any
surgical procedure. There is wide variability in the expression of the disease, with mildly and
severely affected patients appearing in the same family. In addition to type I disease, nine
other forms of Ehlers-Danlos syndrome have been delineated (Table).
Neonatal Marfan syndrome is more severe than cases observed in older children and
usually presents with congenital contractures and severe cardiac disease, including valval
regurgitation and aortic root dilation. Clinical features include high palate, chest deformities,
and dislocated lenses. Cutis laxa is a rare disorder in which the skin appears to be too large
and tends to sag. However, the skin is not hyperextensible, and joint laxity is not a feature.
Homocystinuria is an inborn error of metabolism that results from decreased cystathionine
synthetase activity. Untreated neonates may develop seizures, developmental delay, or
thromboembolus later in infancy or in childhood. Osteogenesis imperfecta is a connective
tissue disorder that occurs in several forms. The infantile presentation of the disease includes
congenital fractures, but there are no skin changes.
XXI. Collagen vascular and other multisystem disorders
Question 47.
Answer.
A 16-year-old girl who has systemic lupus erythematosus develops pain and swelling in the left
lower leg followed within 24 hours by tachypnea. Findings on physical examination are normal
except for a malar butterfly rash, swelling of the left calf, and pain on dorsiflexion of the left
foot that has been present for several months.
Of the following, the MOST likely etiology of these symptoms is
A.
disseminated intravascular coagulation
B.
immune thrombocytopenic purpura
C.
myositis
D.
thromboembolic disease
E.
vasculitis
Question 126. Answer.
A 16-year-old girl presents with fatigue, myalgia, and joint swelling. Laboratory evaluation
reveals: hemoglobin, 8 g/dL; creatinine, 1.5 mg/dL; C3 complement, 25 mg/dL (normal, >80
mg/dL); antinuclear antibody titer, 1:3,200; anti-DNA titer (double-strand), 1:320;
antineutrophil cytoplasmic antibodies, negative; and urinalysis, red blood cells, >100/highpower field and urine protein, 300 mg/dL.
Of the following, the MOST likely explanation for these findings is

A.
giant cell (Takayasu) arteritis
B.
Henoch-Schnlein purpura
C.
polyarteritis nodosa
D.
systemic lupus erythematosus
E.
Wegener granulomatosis
Question 206. Answer.
A healthy 14-year-old girl is worried about an area of skin thickening, tightness, and
discoloration that developed about 3 months ago. There is no history of trauma to the area,
and there are no associated symptoms. Physical examination reveals a shiny, hypopigmented
patch with a brown border. The affected skin is immobile, firm, and has a bound-down feeling.
Of the following, the MOST likely explanation for these findings is
A.
lichen sclerosus et atrophicus
B.
linear scleroderma
C.
postinflammatory hypopigmentation
D.
progressive systemic sclerosis
E.
vitiligo

Answers
Critique 47
Preferred Response: D
[View Question]
Systemic lupus erythematosus (SLE) is associated with many hematologic complications,
including an increased risk of thromboembolic disease. The so-called lupus anticoagulant
complicates the course of 10% to 20% of affected patients. This phenomenon is described
more accurately as a circulating, antiphospholipid antibody that inhibits the effectiveness of
phospholipid-protein complexes, which play an important cofactor role in coagulation. It should
be noted that many disorders other than SLE are associated with these anticoagulants, and in
children they probably are associated most often with viral illnesses.
These antiphospholipid antibodies prolong the activated partial thromboplastin time
(PTT) and inhibit the ability of normal plasma to correct the prolonged PTT in the laboratory. In
spite of what would appear to be a hemorrhagic effect, patients who have these antibodies are
at increased risk for venous or arterial thromboses. Affected patients do not demonstrate
excessive bleeding unless there is associated thrombocytopenia or acquired factor II
(prothrombin) deficiency.
Antiphospholipid antibodies are detected best using a series of specifically designed
clotting tests and by identifying the anticardiolipin antibodies usually found in these patients.
Antibody cross-reactivity is responsible for the false-positive serology test for syphilis (VDRL) in
patients who have SLE. Children who have SLE and demonstrate persistence of a lupus
anticoagulant have a 16- to 25-fold greater risk of thromboembolic events compared with
those lacking the anticoagulant.
The differential diagnosis of thromboembolus in patients who have SLE includes
vasculitis and myositis, which are less localized and not associated with a palpably thrombosed
vein. Venous Doppler studies will distinguish between these conditions. Immune
thrombocytopenia is common among patients who have SLE, but it usually does not cause
deep hematomas that would result in pain and swelling. However, patients who have chronic
immune thrombocytopenic purpura without lupus also have an increased incidence of
antiphospholipid antibodies. Disseminated intravascular coagulation rarely occurs in patients
who have SLE and usually is associated with cutaneous and mucous membrane bleeding
rather than a hematoma.
The most common hematologic manifestation of SLE is anemia, which is seen in 50%
of children. It usually is due to the chronic inflammatory disease, but autoimmune hemolytic
anemia may be present in approximately 10% of patients. Other hematologic manifestations
include leukopenia, immune thrombocytopenia, and a variety of inhibitors to specific
coagulation factors, which occasionally can result in bleeding.
Critique 126
Preferred Response: D
[View Question]
Systemic lupus erythematosus (SLE) is an immunologic form of vasculitis that predominantly
affects females in a ratio of 3:1 among children and 9:1 among adults. The annual incidence of
SLE in childhood is estimated to be 0.6 per 100,000 population. In Caucasians, there is a higher

association with the histocompatibility grouping A1B8DRw3. There also is a higher frequency of
the disease among Hispanics, Asians, and African-Americans. Several inherited defects of the
immune system have been reported to predispose to SLE, including defects in complement
production and immunoglobulin A deficiency. However, the hallmark of active SLE is increased
activity of the immune system. The etiology of this hyperactivity is unknown.
A child who has SLE may present with symptoms related to any organ system.
Hematuria, proteinuria, and hypertension are the most common renal manifestations.
Approximately two thirds of affected patients have renal involvement, which ranges from
minimal pathologic findings to severe diffuse proliferation with crescents. Other symptoms
include a butterfly malar rash; arthralgia and arthritis; pallor; hemorrhage; neurologic
symptoms (eg, paresthesias); cardiac symptoms due to valvulitis (Libman-Sacks valvulitis),
pericarditis, and myocarditis; pleurisy and pleural effusions; hepatomegaly and splenomegaly;
and photosensitivity.
The laboratory manifestations of SLE are as varied as its clinical presentations.
Hypocomplementemia, with low concentrations of both C3 and C4, is common, particularly
during episodes of disease activity. A positive antinuclear antibody titer supports the diagnosis
of SLE and is present in more than 90% of cases. However, elevated titers of antinuclear
antibody also can be present in patients who have juvenile rheumatoid arthritis and Lyme
disease. Antibodies directed to the double-strand DNA, as described for the girl in the vignette,
commonly are considered specific for active SLE.
A definitive diagnosis of SLE in a child or adolescent requires fulfilling four of the 11
revised criteria of the American Rheumatism Association. These criteria are summarized by a
mnemonic SOAP BRAIN MD (Table). In patients who have active SLE, aggressive treatment with
steroids is indicated. Some children require the administration of intravenous alkylating agents,
cyclosporine, and other cytotoxic medications. Plasmapheresis is reserved for children who
have severe neurologic involvement.
Giant cell (Takayasu) arteritis is caused by segmental inflammation of the arteries that
results in aneurysms and stenosis of large muscular arteries, especially the aorta and its major
branches. It is relatively uncommon in North America and Europe, although it is the third most
common form of vasculitis (after Henoch-Schnlein purpura and Kawasaki disease) worldwide.
Manifestations include fever, night sweats, anorexia, weight loss, and arthritis. Hypertension or
congestive heart failure associated with pulse deficits may be noted. Laboratory evaluation
reveals increased sedimentation rate, weakly positive antinuclear antibody titer, and antiaorta
antibodies. Magnetic resonance angiography or standard angiography is needed to
demonstrate the defects. Treatment includes the administration of steroids and other cytotoxic
medications, antiplatelet agents, and in some cases, reconstructive surgery when the disease
is inactive.
Henoch-Schnlein purpura (HSP), the most common form of vasculitis in childhood,
involves the small blood vessels. It occurs more commonly in children during the first decade
of life. The salient features are purpura in the absence of thrombocytopenia, arthritis or
arthralgia, and abdominal pain. The purpura is most prominent on the shins, back of the
thighs, and the buttocks. Toddlers may have swelling of the dorsum of the feet and hands as
well as the scalp; the rash may involve the face in this age group. More than 50% of affected
children have glomerulonephritis, and 10% may have serious renal complications, including
nephrotic syndrome, hypertension, crescentic glomerulonephritis, and renal failure. In children
who have HSP, negative antinuclear antibody and anti-DNA (double-strand) titers and normal
complement levels are typical. The concentration of immunoglobulin A is elevated in 40% to
50% of affected patients. Treatment with corticosteroids is reserved for those patients who
have complicated HSP nephritis or severe gastrointestinal involvement.
Polyarteritis nodosa (PAN) is a vasculitis that may affect medium-sized (macroscopic
PAN) or small-sized (microscopic PAN) arteries. In patients who have macroscopic PAN, the
primary clinical findings at the time of presentation include malaise, fever, rash, abdominal
pain, and arthropathy. Myalgia, ischemic heart pain, testicular pain, neurologic symptoms,
hematuria, hypertension, and organic psychosis also have been reported. In the microscopic
form of the disease, hypertension is the prominent feature, and this usually is associated with
hematuria and proteinuria. Involvement of the eyes, skin, gut, nervous system, and lungs has
been reported. The diagnosis of PAN depends on demonstrating the small-vessel vasculitis in
the kidney or any other organ, which can be accomplished by angiography. Patients have an
elevated sedimentation rate, increased levels of C-reactive protein, anemia, leukocytosis,
thrombocytosis, and abnormal urinary findings. Antineutrophil cytoplasmic antibodies (ANCA)
with peripheral staining (p-ANCA) are positive and directed against neutrophil granule

myeloperoxidase. Central staining ANCA (c-ANCA) titers usually are negative. Complement
levels are normal, and antinuclear antibody titers generally are not detectable. Treatment of
PAN involves the administration of corticosteroids and cytotoxic agents.
Wegener granulomatosis is a necrotizing granulomatous vasculitis of the upper and
lower respiratory tract that is associated with glomerulonephritis and systemic small-vessel
vasculitis. The presence of a triad of symptoms, including sinusitis, pulmonary involvement
(eg, hemoptysis), and glomerulonephritis (eg, hematuria, proteinuria), suggests the diagnosis.
Biopsy of involved tissue, particularly the kidney, usually confirms the diagnosis. In addition,
most patients have high c-ANCA titers. Treatment involves aggressive use of corticosteroids
and cyclophosphamide.
Critique 206
Preferred Response: B
[View Question]
Scleroderma is a rare connective tissue disorder that is believed to have an autoimmune
etiology. It may be separated into localized and systemic forms. Localized scleroderma is more
common than the systemic type. Lesions of localized scleroderma begin as areas of indurated
skin surrounded by a violaceous halo. Over time, the violaceous color is lost and the skin takes
on a waxy, ivory appearance. As the disease remits, the skin becomes atrophic and hypo- or
hyperpigmented. Localized scleroderma may occur in three clinical patterns: linear
scleroderma, morphea, and generalized morphea. In linear scleroderma, as exhibited by the
patient described in the vignette, lesions develop in a band-like distribution, typically are
unilateral, and usually involve the extremities, although the face and trunk may be affected.
Lesions may span joints, resulting in diminished range of motion or deformity, and may extend
to soft tissue, muscle, or bone. In morphea, one or two lesions are present, often located on
the trunk. Generalized morphea is characterized by the presence of widespread or coalescent
lesions.
In most instances, localized scleroderma is self-limited, with disease activity lasting an
average of 3 to 5 years. Although the disease eventually remits, there may be considerable
morbidity, particularly when the face is involved or joint function is compromised. Fortunately,
it is very rare for localized scleroderma to progress to a systemic form.
The treatment of localized scleroderma is unsatisfactory; no therapy is curative. Topical
or intralesional corticosteroids or topical calcipotriene may halt the progression of expanding
lesions that are characterized by an erythematous border. Emollients are helpful in relieving
dryness or pruritus of affected areas. When sclerotic skin overlies joints, physical therapy is
indicated to preserve mobility and prevent contractures. Severe, widespread, or progressive
disease may require a more aggressive therapeutic approach. Agents that have been
employed with variable success include penicillamine, hydroxychloroquine, chloroquine,
systemic corticosteroids, methotrexate, and phenytoin.
A number of dermatologic disorders are characterized by hypopigmentation, but do not
present with the thickening or sclerosis seen in scleroderma. Lichen sclerosus et atrophicus
produces hypopigmented areas that are atrophic, not sclerotic. In children, the lesions often
are located on the genitalia where they may become eroded and cause pruritus or dysuria.
Disorders characterized by inflammation, such as atopic dermatitis, can cause
hypopigmentation. Affected areas are flat, exhibit reduced pigment, and have indistinct
borders. In contrast, the lesions of vitiligo lack any pigment and, therefore, are completely
white and sharply demarcated.
Systemic sclerosis is very rare in children. Most affected individuals experience
tightening of the skin overlying the digits or Raynaud phenomenon, not the focal cutaneous
involvement characteristic of localized scleroderma. In addition, there may be involvement of
multiple organ systems (eg, gastrointestinal, musculoskeletal, cardiac, pulmonary, and renal).
XXI. Collagen vascular and other multisystem disorders
Question 24.
Answer.
A 14-year-old girl who has juvenile rheumatoid arthritis complains of substernal chest
discomfort and light-headedness with standing. Recently her prednisone dosing was tapered
from daily to every other day. Findings include: visible jugular pulsations while sitting, decrease
in brachial pulse intensity with each inspiration, and distant heart sounds, but no murmurs or
rubs. Radiography shows a greatly enlarged cardiac silhouette.
The most appropriate INITIAL step is to
A.
administer high-dose corticosteroids intravenously
B.
administer methotrexate intravenously

C.
obtain computed tomography of the chest
D.
obtain electrocardiography
E.
perform pericardiocentesis
Question 83.
Answer.
An 18-month-old boy treated 6 days ago with amoxicillin for otitis media returns today with a
persistent daily fever of at least 39.8C (103.6F). Physical examination reveals a listless child
who has a maculopapular rash over the trunk, injected sclera, and dry and fissured lips. The
palms of his hands and fingertips are indurated and erythematous.
Of the following, the MOST likely diagnosis is
A.
drug reaction
B.
juvenile rheumatoid arthritis
C.
Kawasaki syndrome
D.
measles
E.
scarlet fever
Question 141. Answer.
A 14-year-old boy is referred for evaluation of a heart murmur noted on a sports
preparticipation physical. Physical examination reveals a very tall and thin boy who has a
pectus excavatum deformity of the chest, hyperextensible joints, and an apical pansystolic
cardiac murmur with mid-diastolic rumble.
The MOST helpful diagnostic evaluation to determine the etiology of these findings is
A.
electromyography studies
B.
magnetic resonance imaging of the spine and sternum
C.
measurement of plasma amino acid concentrations
D.
skeletal survey
E.
slitlamp ophthalmologic examination
Question 204. Answer.
A female infant was delivered at 34 weeks gestation because of progressive hydrops to a 34year-old woman who has had two previous miscarriages. A persistent fetal bradyarrhythmia
had been noted at 28 weeks gestation.
Of the following, the laboratory test that would be MOST useful in confirming a diagnosis of
neonatal lupus is
A.
antinuclear antibody test
B.
anti-Ro/SS-A and anti-La/SS-B antibodies
C.
human lymphocyte antigens
D.
quantitative immunoglobulins
E.
serum complement level
Question 240. Answer.
A 9-year-old girl is noted to have a linear fibrotic hyperpigmented plaque extending down the
posterior aspect of her left leg from her thigh to her knee. The lesion has been stable for 6
months. A skin biopsy confirms your clinical diagnosis of linear morphea, a linear variant of
localized scleroderma.
Of the following, the MOST appropriate management is to
A.
administer a tapering course of oral corticosteroids to soften the cutaneous lesion
B.
initiate oral penicillamine therapy to prevent progression to systemic disease
C.
observe the lesion and consider photo-chemotherapy if it progresses
D.
refer the girl to physical therapy to prevent contracture formation
E.
refer the girl to plastic surgery for repair of the cutaneous defect
Answers
Critique 24
Preferred Response: E
[View Question]
Pericarditis with sterile pericardial effusion is a welldescribed complication of juvenile
rheumatoid arthritis (JRA). Patients who have JRA are likely to complain of pericarditic chest
pains as the only symptom of pericarditis. The chest pains of pericarditis are different from
benign chest pains of childhood and adolescence. Pericarditis pain often is nagging and
present for most of the day over a period of days. It may worsen in the supine position. In
contrast, benign chest pains usually last seconds to minutes, are intermittent, and often
appear at infrequent intervals for weeks or months.
The development of cardiac tamponade from a large pericardial effusion is rare in
patients who have JRA. It is more commonly a presenting problem in children or adolescents
who have systemic lupus erythematosus. The findings of jugular venous pulse distension and

marked decrease in the strength of the brachial arterial pulse during each inspiration (pulsus
paradoxus) in the girl described in the vignette are diagnostic of tamponade. Its presence
necessitates immediate pericardiocentesis. Echocardiographic guidance of pericardiocentesis
is useful, but there is no need for a strictly diagnostic echocardiographic study because the
diagnosis of cardiac tamponade already is obvious. Similarly, computed tomography of the
chest would be diagnostic, but could delay appropriate therapy. Typical electrocardiographic
findings of diffuse S-T elevation are not present in all patients who have pericarditis.
In patients who have JRA, pericarditis may develop more frequently when their dosage
of antiinflammatory medications is tapered or stopped, such as the girl described in the
vignette. A small or moderate effusion that is diagnosed by echocardiography obtained in
response to chest pain or pericardial rub on examination may resolve with treatment with anti
inflammatory drugs (eg, corticosteroids, methotrexate). However, such pharmacologic therapy
would not provide immediate relief of such symptoms of tamponade as described in the
vignette.
Critique 83
Preferred Response: C
[View Question]
The toddler described in the vignette not only has failed to respond to the amoxicillin, but his
condition has worsened, with the additional signs and symptoms of a truncal rash,
conjunctivitis, and red, indurated palms. These findings suggest that his illness is more than
otitis unresponsive to current therapy. Rather, these symptoms and signs are consistent with
Kawasaki syndrome (KS). No etiologic agent has been identified for this disease, so the
diagnosis is made clinically by finding at least five of six established criteria:

Fever (>40C [>104F]) for 5 days or longer

Bilateral nonexudative conjunctivitis

Acute cervical lymphadenopathy

Fissured, dry, and swollen lips

Erythema and induration of the palms and soles, later developing into a
desquamation extending from the fingertips to proximal surfaces of hands

Polymorphic, erythematous, maculopapular eruption on the trunk

The child described in the vignette exhibits five of these criteria. In addition to the
physical findings listed, children who have KS may exhibit an intensely red perineal rash that
also desquamates. Other findings include pneumonia, diarrhea, photophobia, aseptic
meningitis, and carditis.
Drug reactions to the penicillin class of drugs can result in maculopapular rashes over
the trunk and extremities and swollen joints. However, neither fevers in the range of 39.8C
(103.6F) nor indurated red palms are typical of the hypersensitivity reaction to amoxicillin.
Juvenile rheumatoid arthritis (JRA), particularly the systemic type, should be considered in a
toddler who presents with high fever and rash, but the pattern of symptoms described in the
vignette is more acute than what usually develops in these patients. The fevers in JRA usually
occur over several weeks, with an evanescent, reticular rash appearing when the fever is at its
peak. Other findings associated with JRA include arthritis, hepatosplenomegaly,
lymphadenopathy, pleural effusions, and cardiomegaly. Nonexudative conjunctivitis, fissured
lips, and induration of the palms are not associated with this disease.
Measles is an infrequent diagnosis in the United States today, but it is not unusual in
individuals from countries where the vaccine is not administered routinely. It has been
estimated that more than 1 million deaths occur annually in developing countries from
measles and its complications. Initially, the patient exhibits fever, coryza, and exudative
conjunctivitis. A macular rash develops approximately 4 days later. It begins along the hairline,
extends down the neck, and spreads over the extremities and trunk in the next 24 hours. In
contrast, the rash described in the vignette is distributed over the trunk only without evidence
of this progression.
The rash of scarlet fever is fine and sandpaper-like, and it is caused by a group A betahemolytic streptococcal infection. The rash is distributed diffusely over the body, although it
may be more prominent in the flexural areas, such as the antecubital fossa and groin. The
nonexudative conjunctivitis and induration of the extremities in the child described in the
vignette are not typical of scarlet fever.
Critique 141
Preferred Response: E
[View Question]

Marfan syndrome is an autosomal dominant disorder that results from mutations in the fibrillin
gene and is characterized by the development of skeletal, cardiac, and ocular symptoms. The
musculoskeletal abnormalities include tall stature, pectus deformity of the chest, scoliosis, a
high arched palate and dental crowding, hyperextensible joints, pes planus, and
arachnodactyly. Cardiac findings can include murmurs associated with aortic regurgitation,
mitral valve prolapse, and mitral regurgitation; prolapse and regurgitation of the mitral valve
also may occur concomitantly. Affected patients are at risk for dilatation of the ascending aorta
and aortic rupture beginning in childhood. The diagnosis of Marfan syndrome requires the
presence of a major feature in at least two organ systems and involvement of a third organ
system. The patient described in the vignette has both skeletal and cardiac features evident on
physical examination that warrant further assessment by careful cardiac evaluation, including
echocardiography and electrocardiography. In addition, an ophthalmologic examination should
be undertaken to search for ectopia lentis (displacement of the lens of the eye). The latter is a
major feature of the disorder that is present in up to 60% of affected individuals.
When the diagnosis of Marfan syndrome is confirmed, both parents should be
examined to determine if they are affected. Marked inter- and intrafamily variation in clinical
severity of the syndrome has been noted. Approximately 15% of patients who have Marfan
syndrome represent a new mutation; many of these new mutations occur in offspring of older
men, a phenomenon that has been observed in other autosomal dominant disorders. For some
families, prenatal and presymptomatic molecular diagnosis can be made either by the direct
detection of mutations in the fibrillin of the gene or by linkage analysis (when the mutation is
unknown).
Individuals who have Marfan syndrome require careful ongoing monitoring and
symptomatic care to minimize morbidity and mortality. Scoliosis of greater than 10 degrees
should be treated aggressively, and all patients require careful monitoring of their cardiac
status. Beta-adrenergic blockers are recommended to prevent severe aortic complications; in
some cases, surgical correction of the proximal aorta and aortic valve may be required. For
women, an additional concern is the increased risk of aortic dissection during pregnancy,
presumably due to increased blood volume and cardiac output.
Results of electromyography studies usually are normal in affected patients, but they
would be helpful in those suspected of having myotonic dystrophy. Although patients who have
this disorder occasionally have a marfanoid habitus and myopathic facies, they should exhibit
the neurologic findings of myotonia. Magnetic resonance imaging of the spine and sternum is
not essential for making the diagnosis of Marfan syndrome, although in some patients who
report back pain, it may reveal dural ectasia (outpouching of the dura mater). Similarly, a
skeletal survey is not necessary to confirm the diagnosis, although in some instances hand
radiography may be useful to document arachnodactyly. Measurement of plasma amino acid
concentrations would be useful in differentiating Marfan syndrome from homocystinuria, a
disorder that has similar skeletal and ocular features, but not the cardiac findings, found in
Marfan syndrome.
Critique 204
Preferred Response: B
[View Question]
Nonimmune hydrops fetalis is a rare disease of multiple causes, which include fetal cardiac
arrhythmia. Congenital heart block is recognized increasingly in the offspring of mothers who
have systemic lupus erythematosus (SLE) and may result in congestive cardiac failure and
hydrops in the affected fetus. The infant described in the vignette has been delivered
prematurely at 34 weeks' gestation because of progressive hydrops. The history of persistent
fetal bradyarrhythmia noted at 28 weeks' gestation suggests the possibility of congenital heart
block as a cause of hydrops. The history of two previous miscarriages in the 34-year-old
mother is consistent with a diagnosis of maternal SLE.
SLE is an autoimmune disease that has a wide spectrum of clinical manifestations in
children and adolescents. The primary problem is persistent nonspecific activation of
polyclonal B cells that results in widespread tissue deposition of immune complexes. The
nature of the immune complexes and the location of their deposition are determined by
genetic factors and previous environmental exposures. Thus, no two patients have an identical
pattern of immune complexes or clinical expression of disease.
Primary SLE in the newborn is extremely rare. Transient SLE has been reported in
infants of mothers who have SLE, and this is caused by the transplacental passage of maternal
antinuclear antibodies. In adulthood, there is a marked female predominance of SLE, with a
female-to-male ratio of 9:1, compared with a 2:1 ratio in neonates.

Transient neonatal SLE is characterized by a scaly, erythematous rash involving the

face, particularly the periorbital area, the trunk, and the upper extremities. The rash commonly
resolves by 6 months of age, but may leave residual skin atrophy and telangiectasis.
Hematologic abnormalities (eg, hemolytic anemia, leukopenia, thrombocytopenia) are seen in
10% of cases. Hepatosplenomegaly and pericarditis are less frequent manifestations of
transient neonatal SLE.
Antibodies directed against the nuclear antigens Ro (SSA) and La (SSB) have been
associated with transient neonatal SLE, particularly in infants who have congenital heart block.
The cause of the heart block is thought to be damage caused by deposition of immune
complexes in the connective tissue of the conduction system.
Antinuclear antibody (ANA) testing is a useful screening test for patients who are
suspected of having SLE. However, although this test has a high sensitivity (ie, the vast
majority of children who have SLE are ANA-positive), it has poor specificity (ie, the vast
majority of ANA-positive children do not have SLE).
Human lymphocyte antigens and quantitative immunoglobulins are nonspecific
markers of autoimmune disease. Decreased levels of serum complement may be seen in
patients who have active SLE, but most children, including neonates, who have mild or
transient SLE do not exhibit decreased levels of serum complement.
Critique 240
Preferred Response: C
[View Question]
The child described in the vignette has linear morphea, a linear variant of localized
scleroderma that is the most common form of this connective tissue disorder in children. In
morphea, lesions are restricted to the skin and subcutaneous tissue, with only occasional
involvement of underlying bony structures. Morphea typically begins insidiously as a linear
hyperpigmented patch that becomes progressively fibrotic. Children complain of skin tightness,
and contractures may form when the lesion crosses joints, resulting in a decreased range of
motion.
Fortunately, most cases of linear morphea are self-limiting, but pigmentary changes,
fibrosis, and atrophy may persist indefinitely. No treatment has been shown in controlled
studies to shorten the course of the disease or decrease the risk of complications. Accordingly,
management usually is limited to careful observation and administration of topical lubricants
to address associated dryness and itching. In some patients, pigmentary changes and fibrosis
may improve with photochemotherapy (PUVA). Surgical intervention usually is not necessary,
and some reports even have suggested that surgery can reactivate disease. Those who do
have contractures respond well to splinting and physical therapy. The girl in described the
vignette, however, does not have any contractures.
Rarely, children who have morphea may develop extensive, progressive, disfiguring
plaques on the face, trunk, or extremities. Complications can include visual impairment, cranial
nerve palsies, and seizures. Anecdotal reports have suggested that the administration of such
drugs as corticosteroids, methotrexate, cyclophosphamide, and penicillamine may help with
such plaques. However, these should be used only as a last resort because of their serious side
effects.
XXI. Collagen vascular and other multisystem disorders
Question 73.
Answer.
A 12-year-old girl who has a 4-year history of chronic immune thrombocytopenic purpura was
otherwise well until 3 weeks ago. At that time she developed intermittent fever; malaise; and
tender, painful swelling of the knees and wrists. Laboratory findings include: hemoglobin, 12.6
g/dL; platelet count, 35,000/mm; and 15 to 20 white blood cells and 10 to 30 red blood cells
per high power field on urinalysis.
The MOST likely explanation for these findings is
A.
Henoch-Schnlein purpura
B.
human immunodeficiency virus infection
C.
juvenile rheumatoid arthritis
D.
Lyme disease
E.
systemic lupus erythematosus
Question 181. Answer.
A 14-year-old girl who has systemic lupus erythematosus has developed diffuse proliferative
glomerulonephritis.

Among the following, the MOST appropriate dose of oral prednisone, in mg/kg per day, for this
patient is
A.
0.1
B.
0.2
C.
0.5
D.
1.0
E.
2.0
Answers
Critique 73
Preferred Response: E
[View Question]
Most children who develop immune purpura (ITP) have an acute, self-limited disease. However,
10% to 20% of children fail to recover within 6 months, and they are considered to have
chronic ITP. Chronic disease is more common among females and older children, particularly
those older than 10 years of age.
Most children who have chronic ITP have no other underlying disease process, but
other diseases should be excluded when ITP is not acute and self-limited. Collagen vascular
disorders, human immunodeficiency virus (HIV) infection, humoral immunodeficiency
(particularly immunoglobulin A [IgA] deficiency), common variable hypogammaglobulinemia,
and Hodgkin disease all are associated with an increased risk of chronic ITP. Approximately 1%
of children who have chronic ITP develop autoimmune hemolytic anemia before, during, or
after the development of thrombocytopenia.
Systemic lupus erythematosus (SLE) develops in as many as 5% of adolescent females
presenting with ITP. Thrombocytopenia may precede the development of other clinical
manifestations of lupus (eg, facial rash) by months or years. Although serologic testing for SLE
often is performed, the majority of patients who have ITP and positive antinuclear antibody
studies do not develop SLE, which suggests a limited value to routine antinuclear antibody
studies in these patients. However, the development of fever, arthritis, and renal
abnormalities, such as seen in the patient in the vignette, is an indication for such testing;
typically, such findings herald the development of clinical SLE. Circulating anticoagulants often
occur in these patients and may be associated paradoxically with thrombotic complications.
Therapy of SLE-associated ITP is similar to that of "idiopathic" chronic ITP, although it may be
more resistant to treatment.
HIV infection is an increasingly frequent cause of chronic ITP in children. The diagnosis
usually is evident from maternal history or findings on the initial clinical examination. Many of
these children have recurrent infections, failure to thrive, persistent candidiasis, axillary
adenopathy, hepatosplenomegaly, or anemia or an abnormal white blood cell count or
differential. However, isolated thrombocytopenia may be the initial manifestation, and this
diagnosis must be considered in the child who has chronic thrombocytopenia of undefined
etiology. However, the findings of arthritis, pyuria, and hematuria, as seen in the girl in the
vignette, are not characteristic of HIV infection. Similarly, these clinical findings with
associated thrombocytopenia are unlikely manifestations of Lyme disease or juvenile
rheumatoid arthritis. Henoch-Schnlein purpura is a vasculitis that is not associated with
thrombocytopenia.
Critique 181
Preferred Response: E
[View Question]
Treatment plans for any child who has systemic lupus erythematosus (SLE) is directed by the
extent and severity of the disease. Major organ disease (eg, diffuse proliferative
glomerulonephritis) necessitates the use of high-dose corticosteroids. The initial dose of oral
prednisone is 2 mg/kg per day (maximum, 60 to 80 mg) in divided doses for a minimum of 3 to
4 weeks followed by consolidation, then a gradual tapering of the dosage.
The use of a high-dose pulse regimen of intravenous methylprednisolone (30 mg/kg
per day, maximum 1 g, for 3 consecutive days) also has been advocated. The undesirable side
effects of steroid therapy, including cushingoid appearance, suppression of linear growth,
weight gain, osteoporosis, hypertension, central nervous system effects, and suppression of
the hypothalamic-pituitary-adrenal axis, should be expected if large doses are required for a
significant period of time.
There now is general agreement that intravenous cyclophosphamide therapy is
indicated for the child who has active SLE complicated by diffuse proliferative
glomerulonephritis. The most striking observation following initiation of systemic intravenous
cyclophosphamide therapy for these children has been the dramatic improvement in their

overall well-being. A substantial reduction has occurred in the frequency of intercurrent

infections, arthritis, and other manifestations of active disease. Complications of intravenous
cyclophosphamide include nausea, hair loss, and leukopenia, but these are generally
reversible.
XXI. Collagen vascular and other multisystem disorders
Question 9.
Answer.
A 5-year-old boy is evaluated for abdominal pain and a rash over the lower extremities. The
abdominal pain has been severe and is accompanied by vomiting and bloody stools. Physical
examination reveals mild, nonpitting edema over the knees and a purpuric maculopapular rash
distributed from the buttocks to the toes. The boy complains of pain on flexion and extension
of both knees.
The MOST likely explanation for these findings is
A.
Henoch-Schnlein purpura
B.
inflammatory bowel disease
C.
intussusception
D.
juvenile rheumatoid arthritis
E.
streptococcal infection
Question 59.
Answer.
A 2-year-old child presents with fever, swollen hands, and a generalized rash. When sitting, he
holds most of his joints in flexion. Physical examination reveals a temperature of 40C (104F),
tachycardia, tachypnea, diffuse rales, and obviously swollen and tender wrists and hands.
Echocardiography reveals a large pericardial effusion.
Among the following, the BEST initial therapy for this child is
A.
gold
B.
hydroxychloroquine
C.
methotrexate
D.
naproxen sodium
E.
prednisone
Question 119. Answer.
A patient who has a low titer of antinuclear antibody (ANA) is referred to you. History reveals a
sibling who has systemic lupus erythematosus (SLE).
Of the following, your management is MOST likely to include
A.
explaining that low titers of ANA can occur in family members of patients who have
SLE
B.
measuring the antihistone antibody titer
C.
obtaining an erythrocyte sedimentation rate
D.
obtaining a C-reactive protein level
E.
obtaining a complete blood count
Question 166. Answer.
A 16-year-old boy has persistent lower back pain following a minor bicycle accident. He also
reports intermittent ankle pain and swelling that began several weeks ago. Findings include
swelling and tenderness of the left ankle and the sacroiliac regions. Radiographs reveal
narrowing of the sacroiliac joints.
Of the following, the laboratory test result that is MOST likely to be positive in this patient is
the
A.
anti-DNA antibody titer
B.
antinuclear antibody titer
C.
Coombs test
D.
histocompatibility locus antigen-B27
E.
rheumatoid factor assay
Question 209. Answer.
An 8-year-old girl has had fatigue, arthralgias, and poor appetite for 1 month. For the past 2
weeks she has had increasing difficulty climbing stairs and has been unable to play soccer with
her team. Findings include erythema and edema of the eyelids and forehead; a scaly red rash
over the elbows, knuckles, and knees; and proximal muscle weakness.
The laboratory study MOST likely to confirm a diagnosis is
A.
antinuclear antibody titer
B.
electromyography
C.
erythrocyte sedimentation rate
D.
skin biopsy

E.

spirometry

Answers
Critique 9
Preferred Response: A
[View Question]
In the patient presented in the vignette, the triad of lower extremity rash, abdominal pain, and
joint pain suggests the diagnosis of Henoch-Schnlein purpura (HSP). Patients who have
inflammatory bowel disease often have gastrointestinal symptoms (eg, bloody diarrhea,
abdominal pain) and some may have extraintestinal findings, including joint manifestations
(eg, arthralgia, arthritis) and dermatologic findings (eg, erythema nodosum, pyoderma
gangrenosum). A localized purpuric eruption would be atypical.
Intussusception classically presents with bloody stools and severe, intermittent pain; if
perforation and septic shock ensue, a purpuric rash that is due to disseminated intravascular
coagulation may appear. However, typically the purpura is diffuse rather than confined to the
lower extremities, and arthritis is not an associated finding.
Arthritis in large joints occurs in juvenile rheumatoid arthritis (JRA), but severe
abdominal pain and bloody stools are not part of the constellation of symptoms of this disorder.
Although a fleeting maculopapular rash also may be seen in patients who have JRA, the rash is
not purpuric and it tends to be scattered diffusely over the trunk.
Findings associated with streptococcal infection include rash and abdominal pain, but
the gross blood found in the stools of the patient described in the vignette should alert the
clinician to other diagnoses.
HSP is thought to be an immunoglobulin (Ig) A-mediated vasculitis, often presenting
initially with joint pain in the knees or ankles. A nonthrombocytopenic purpuric rash
subsequently erupts, usually with localized lesions on the buttocks and lower extremities. Joint
pain is present in as many as 75% of cases; the rash is seen in all patients. Severe colicky
abdominal pain is reported in 35% to 85% of patients. Hematemesis and melena frequently
occur, and, in some cases, lead to exploratory surgical procedures. The degree of renal
involvement determines long-term outcome. End-stage renal disease is most common in
patients who have nephritic and nephrotic characteristics, but it also can occur in patients who
have either hematuria or proteinuria.
The diagnosis of HSP usually is made from history and clinical findings, but certain
laboratory results are contributory. The platelet count is normal in patients who have HSP, but
hematuria or proteinuria may be present on urinalysis. The complete blood cell count and
erythrocyte sedimentation rate may be elevated, and anemia may be present if bleeding has
been substantial. Although routine coagulation studies are normal, factor VIII levels are low.
Serum IgA levels are elevated in approximately 50% of patients. If proteinuria is documented,
measurement of the urinary protein-to-creatinine ratio and serum albumin level can help to
determine the extent of renal involvement. If renal or gastrointestinal manifestations of the
disease are severe, electrolyte levels must be monitored closely.
Critique 59
Preferred Response: E
[View Question]
The child described in the vignette most likely has juvenile rheumatoid arthritis (JRA). The
constellation of findings, including high fever with swollen joints and a rash, are suggestive of
the systemic-onset form of the disease. The physical findings of tachycardia and tachypnea
with rales, and the large pericardial effusion seen on echocardiography indicate severe
involvement. Because of the risk of cardiac decompensation during the acute phase of JRA,
high doses of prednisone are given to suppress the inflammatory process. Once the symptoms
have remitted, salicylate therapy should be started; the prednisone should be withdrawn when
a therapeutic level of salicylate has been achieved.
Gold has been used both orally and intramuscularly to modify the arthritic process.
However, controlled studies have not shown that the use of gold provides any significant
advantage over other therapies, and it is now used infrequently because of its toxicity (eg,
leukopenia, thrombocytopenia, anemia, mucosal ulcerations, proteinuria). In addition, gold
therapy is not effective in the management of the acute phase of systemic-onset JRA.
Hydroxychloroquine is the antimalarial agent used most frequently in the treatment of patients
who have JRA. However, there is significant ocular toxicity associated with its use, and it has
not been demonstrated to be of substantial benefit in the acute inflammatory phase of the
disease. Low-dose methotrexate has been used successfully in children who have severe JRA,
particularly when nonsteroidal anti-inflammatory drugs have not been effective. However,

because the response to methotrexate occurs over weeks to months, it is not the drug of
choice for immediate treatment of the acute phase. Naproxen sodium. a nonsteroidal antiinflammatory drug, is commonly used to provide maintenance therapy for JRA. In fact, it is
preferred over aspirin in children because of the association between the use of aspirin and
Reye syndrome. However, naproxen sodium is less effective than prednisone when there is
imminent risk of cardiac decompensation, as described for the child in the vignette.
Other therapies that have been used in the treatment of JRA include D-penicillamine,
sulfasalazine, and intravenous immune globulin (IVIG). However, none of these agents has
demonstrated efficacy in controlled trials.
Critique 119
Preferred Response: A
[View Question]
Patients who have systemic lupus erythematosus (SLE) usually have demonstrable serologic
abnormalities. The antinuclear antibody (ANA) titer is the single best laboratory screening test
for SLE because it nearly always is positive in the presence of active disease. The ANA test
detects a group of antibodies that react with various nuclear constituents, including DNA, RNA,
nucleoproteins, and Smith or Sm antigen (a soluble nuclear protein antigen). They usually are
detected in the serum by immunofluorescent staining techniques. Additional studies to detect
specific ANA titers (eg, double-stranded DNA) also may be needed. However, high titers of ANA
are not diagnostic of SLE; they also occur in other conditions (eg, juvenile rheumatoid arthritis,
chronic active hepatitis, scleroderma, malignancy, viral infections, following the ingestion of
certain drugs, in the elderly). Low titers of ANA occur in up to 30% of siblings and family
members of patients who have SLE and in 2% to 4% of the normal pediatric population.
The patient described in the vignette has both a low ANA titer and a sibling who has
SLE. Thus, explaining to the patient that low titers of ANA can occur in family members of
individuals who have SLE would be appropriate. Obtaining further laboratory data, such as
assessing acute phase reactants (eg, C-reactive protein level, erythrocyte sedimentation rate),
a complete blood count, or an antihistone antibody titer, would not be helpful. Although acute
phase reactants are elevated in patients who have active SLE, such increases are not specific
for the disease. Hematologic findings, including anemia, thrombocytopenia, and leukopenia,
frequently are found at presentation of childhood SLE but also are not specific for this
condition. Measurement of antihistone antibodies is useful in differentiating drug-induced SLE
from idiopathic disease rather than confirming a suspected diagnosis of SLE.
Critique 166
Preferred Response: D
[View Question]
Pauciarticular arthritis is divided into two distinct categories of disease. Pauciarticular type I
disease usually occurs in preschool-aged girls who have disease in at least four joints; the
knees, ankles, and elbows are affected most often. This form of juvenile rheumatoid arthritis
(JRA) accounts for 30% to 40% of cases. As many as 90% of patients are seropositive for
antinuclear antibody (ANA). Because these individuals are at increased risk for blindness due
to chronic iridocyclitis, slit-lamp examinations should be performed three to four times each
year for the first 5 years of follow-up. Rheumatoid factor (RF) and the histocompatibility locus
antigen (HLA)-B27 are not associated with this category of disease.
The patient described in the vignette has pauciarticular type II disease. The typical
patient is an adolescent male who reports a history of trauma prior to the initial presentation.
Tests for RF and ANA are negative, but 75% of affected patients are positive for the HLA-B27
antigen; accordingly, this laboratory finding is the most helpful for diagnosis. As in
pauciarticular type I disease, the large joints, particularly the knees, hips, and ankles, are
affected. Sacroiliitis is common, especially early in the disease; narrowing of the joint space is
a characteristic radiographic finding.
Anti-DNA antibody titers and the Coombs test are more likely to be positive in a patient
who has systemic lupus erythematosus than in one who has pauciarticular JRA.
Critique 209
Preferred Response: B
[View Question]
The findings described for the patient in the vignette include a heliotrope rash on the face,
Gottron papules over the bony prominences of the extremities, and proximal muscle weakness.
They are consistent with a diagnosis of juvenile dermatomyositis (JDMS).
Weakness, with or without pain in the proximal muscles, is the most frequent symptom
of JDMS. Inability to run and climb stairs, as well as easy fatigability during play and inability to

comb hair or to reach upward may be presenting complaints. As the disease progresses,
muscle weakness may be so profound that the child becomes bedridden. The skin changes
may precede, occur simultaneously with, or follow signs of muscle disease.
Although the diagnosis usually is made clinically, laboratory findings that support the
presence of dermatomyositis include characteristic changes on electromyography and muscle
histopathology and elevated activities of muscle-derived enzymes (creatine kinase, aspartate
aminotransferase, and aldolase). Results of immunologic studies (antinuclear antibody titer,
complement levels), an erythrocyte sedimentation rate, spirometry and other pulmonary
function tests, and skin biopsy may be abnormal in the presence of JDMS; however, these
results are not specific for the disease.