Brief Reports 431

Superficial and Deep Infiltrating Congenital

Juvenile Xanthogranuloma Involving Multiple
Skeletal Muscles and Associated with
Ulceration and Generalized Postinvolution
Atrophy
Abstract: We present a 2-day-old boy with a deepseated giant juvenile xanthogranuloma infiltrating the
skeletal muscles on his right lower limb. Unlike typical
juvenile xanthogranuloma, the lesion has shown only
partial spontaneous regression with large atrophic
scar. However, despite the involvement multiple
muscle on the right thigh, the patient has no evidence
of orthopaedic sequelae.

A 2-day-old boy with large erythematous to reddish

tumors on the right inguinal area and posterior thigh
since birth (Fig. 1A) was referred to our dermatology
department. The lesions were approximately 4.6 cm
in diameter on the right inguinal area and 5.3 cm in
diameter on the right posterior thigh, with ulcers at

the center. On physical examination, no lymph node

enlargement or musculoskeletal or neurologic decit
was detected. He was the result of a normal pregnancy
and delivery and had no evidence of systemic disease.
Laboratory data (complete blood cell count, blood
chemistry battery, lipid battery) were unremarkable.
Color Doppler sonography revealed heterogeneous
echoic masses with increased vascularity and magnetic
resonance imaging (MRI) revealed well-enhanced
masses in the right groin and posterior aspect of the
thigh (Fig. 1B). These lesions were interconnected and
formed a deep-seated giant soft tissue tumor inltrating the hamstring and perineal muscle. Clinical and
radiologic ndings suggested a malignant tumor such
as infantile brosarcoma (IFS).
Given the dierential diagnosis of malignant soft
tissue tumor, an incisional biopsy was performed on
the right groin. Histologically, diuse monotonous
histiocytic and eosinophilic inltrates without Touton
giant cells were observed in the upper and middermis,
although foamy histiocytes and Touton giant cells
were found on the deeper section (Fig. 1C). Immunohistochemistry showed that the tumor cells were
positive for CD68 and negative for S100. These

Figure 1. (A) Erythematous to reddish tumors on the right groin and posterior aspect of the thigh. (B) A large, solid, wellenhanced mass involving multiple skeletal muscles on magnetic resonance imaging (axial T1 image). (C) Foamy histiocyte
infiltrations with Touton giant cells and eosinophils (hematoxylin and eosin, original magnification 4009). (D) Appearance at
4.5 years old: a yellowish plaque-like juvenile xanthogranuloma with a large atrophic scar.

432 Pediatric Dermatology Vol. 32 No. 3 May/June 2015

features conrmed the diagnosis of congenital giant

deep juvenile xanthogranuloma (JXG).
Because of its self-limiting prognosis, the patient
had regular follow-ups without any treatment. Six
months later, follow-up MRI showed that the JXG
had shrunk, especially on the right posterior thigh.
The lesion on the right posterior thigh regressed
spontaneously within 1 year but, over 4 years of
follow-up, the lesion on the right inguinal area
regressed only partially, leaving a yellow indurated
plaque and large atrophic scar that was not only
circumscribed in ulcer, but extended to the entire
lesion (Fig. 1D).
JXG is the most common type of non-Langerhans
cell histiocytosis and is characterized by red to yellowbrown papules or nodules measuring less than 1 cm in
diameter. Lesions with a diameter greater than 2 cm
are extremely rare and are described as giant JXG (1).
Unlike previously reported congenital giant JXG, the
lesion in our patient involved multiple skeletal muscles. JXG with muscle invasion is extremely rare.
Most of the cases reported have been located on the
trunk or head and neck region and presented with a
solitary intramuscular lesion without any skin
involvement. Only one 5-month-old girl had a chin
JXG, with a diameter of 3 cm, inltrating through the
skin, subcutaneous tissue, and mentalis muscle (2),
although the lesion reached only the supercial
portion of the skeletal muscle, not the entire muscle.
The dierential diagnosis of our case was challenging because of the ulceration and high vascularity.
A major clinical and radiologic dierential diagnosis
for our patient was IFS, a rare pediatric soft tissue
tumor involving the extremities. As in the present
case, IFSs can ulcerate and present with a poorly
circumscribed and highly vascular tumor on ultrasound and MRI (3). Because IFS is characterized
histologically by spindle cells with a herringbone
pattern in a myxoid background, it can be easily
distinguished from JXG upon biopsy (4).
Vascular tumors, including infantile hemangioma,
were also considered. Because there is no xanthomatization and the accompanying typical yellowish
color, JXG at an early age may be easily confused
(5). As in our case, infantile hemangiomas may exhibit
deep-seated masses inltrating muscles and can present with supercial ulceration. Because of the diculty of making a denitive diagnosis by clinical
inspection or imaging alone, an accurate histopathologic diagnosis is necessary.
This was an unusual case of congenital giant JXG
with extensive multiple areas of deep skeletal muscle
involvement with ulceration. The highly vascular and

aggressive pattern of inltration distinguished our case

from other intramuscular JXGs. Histologically the
small numbers of characteristic Touton giant cells on
the supercial dermis might make diagnosis dicult,
and an incisional biopsy including a deep portion into
the muscle layer should be considered. Unlike typical
supercial JXG, deep-seated giant JXG can present
with great variability in clinical and histopathologic
features. Dermatologists should consider this variant
during the dierential diagnosis and avoid unnecessary
procedures and aggressive treatments.
The patient underwent regular follow-up visits to
our clinic at 6-month intervals. The lesion has been
observed for more than 4 years and has shown partial
spontaneous regression with a large, cosmetically
unacceptable, atrophic scar, which has been rarely
reported as a sequela for giant JXG (6). Despite the
involvement of multiple muscles on the right thigh,
there was no evidence of orthopedic or neurologic
sequelae.
REFERENCES
1. Berti S, Coronella G, Galeone M et al. Giant congenital
juvenile xanthogranuloma. Arch Dis Child 2013;98:317.
2. Margulis A, Melin-Aldana H, Bauer BS. Juvenile xanthogranuloma invading the muscles in the head and neck:
clinicopathological case report. Ann Plast Surg
2003;50:425428.
3. Kraneburg UM, Rinsky LA, Chisholm KM et al.
Emergency surgical treatment of an ulcerative and
hemorrhagic congenital/infantile brosarcoma of the
lower leg: case report and literature review. J Pediatr
Orthop B 2013;22:228232.
4. Kerl K, Nowacki M, Leuschner I et al. Infantile
brosarcomaan important dierential diagnosis of
congenital vascular tumors. Pediatr Hematol Oncol
2012;29:545548.
5. Ceyhan AM, Aynali G, Chen W et al. Congenital giant
juvenile xanthogranuloma initially masquerading as
hemangioma. Eur J Dermatol 2011;21:431433.
6. Imiela A, Carpentier O, Segard-Drouard M et al.
Juvenile xanthogranuloma: a congenital giant form
leading to a wide atrophic sequela. Pediatr Dermatol
2004;21:121123.
Hye-Rim Moon, M.D.
Chong Hyun Won, M.D., Ph.D.
Sung Eun Chang, M.D., Ph.D.
Mi Woo Lee, M.D., Ph.D.
Jee Ho Choi, M.D., Ph.D.
Kee Chan Moon, M.D., Ph.D.
Department of Dermatology, Asan Medical Center,
University of Ulsan College of Medicine, Seoul, Korea
Address correspondence to Sung Eun Chang, M.D., Ph.D.,
Department of Dermatology, Asan Medical Center, University of
Ulsan College of Medicine, Seoul, Korea, or e-mail: cse@amc.
seoul.kr or csesnumd@gmail.com.