Ectodermal

Dysplasia
Reported by: Eguillion, Monica C.

ECTODERMAL
Greek word
derma,
ektos
meaning
meaning
"skin."
"outside"
Dysplasia is a term used in
pathology to refer to an
abnormality of development.

 is characterized by defective formation of

one or more structures derived from
ectoderm.
is describe a heterogeneous group of rare,
inherited disorders mainly characterized by
dysplasia of ectodermal tissues and
occasionally of mesodermal tissues of the
developing embryo.
ED is characterized by the triad of signs
comprising of atrichosis or hypotrichosis,
abnormal anodontia or hypodontia and
inability to sweat due to lack of anhidrosis or
hypohidrosis. In addition, nail dystrophy and
palmoplantar hyperkeratosis is usually
present. The sensorineural and adrenal
tissues are also affected at various degrees.

NATURE
There are 2 major types of this condition
depending on the number and functionality of
the sweat glands:
1) X-linked anhidrotic or hypohidrotic, where
sweat glands are either absent or significantly
reduced in number (Christ-Siemens-Touraine
syndrome), and
2) hidrotic, where sweat glands are normal and
the condition is inherited as autosomal
dominant (Cloustons syndrome). The dentition
and hair are affected similarly in both types,
but the hereditary patterns and nail and sweat
gland manifestations tend to differ.

Mode of Inheritance
HED may be inherited in one of three
patterns:
X-linked recessive, autosomal recessive and
autosomal dominant. Ninety-five percent of
randomly selected individuals with HED have
the X-linked recessive form. The remaining
5% have either the autosomal recessive or
autosomal dominant form of HED. The mode
of inheritance may be determined in some
instances by family history and in others by
molecular genetic testing.

 HED is usually inherited as an Xlinked recessive genetic trait and is

caused by a mutation in the
ectodysplasin-A (EDA) gene; in such
cases, the disorder is fully
expressed in males only. However,
females who carry a single copy
of the disease gene
(heterozygote carriers) may
exhibit some of the symptoms and
findings associated with the disorder.

Fathers with XLHED

will pass the gene
to all of their
daughters, who will

A mother who is a carrier of XLHED has a one in four

chance of having an affected son and a one in four chance
of having a carrier daughter. Women who are carriers for
XLHED may have no symptoms of XLHED, or they may
have mild or even severe versions of them.

Afflicted Chromosome, Gene and

Loci

Phenotype
Hair:Hair can be sparse on the
scalp and body. It is usually light in
colour, brittle, and slow to grow. It
may be very fragile, curly, twisted
and hard to manage. Body hair at
puberty and beard growth in males
may not be affected. Eyebrows and
eyelashes can be sparse or missing.

 Nails:Fingernails and toenails

may be thickened, abnormally
shaped, discoloured, ridged, slow
to grow and/or brittle. Cuticles
may be prone to infection.

 Skin and Sweat Glands: For

many ED syndromes, skin is
lightly pigmented, is prone to
rashes, eczema, and/or
infections, and skin over the
palms and soles may be
thickened. Thus it is important to
treat the skin to avoid infection,
cracking and bleeding

 Teeth:Because the
development of tooth buds is
impacted, teeth can be missing
(hypodontia), or malformed (pegshaped or pointed) and are slow
to grow. Teeth can also be
crowned. Lack of salvia can
make teeth more prone to decay
and poorly formed enamel
means tooth care is very
important.

 Other Symptoms:Some EDS symptoms can

include cleft-lip or palate, deformation of the
hands or feet (including clefting or missing
digits), hearing or vision deficiencies,
nutritional needs, respiratory problems, dry
nose, reduced tear duct functionality, light
sensitive and/or dry reddened eyes.
Physical Appearance:People with an
ectodermal dysplasia syndrome may have
distinctive cranial-facial features including
cupped ears, saddle nose (flattened bridge),
predominant forehead, small nostrils, lack of
frenulum (under the tongue), or a broader
nose.

Statistical Ratio
is one of about 150 types
ofectodermal dysplasiain
humans. Before birth, these
disorders result in the abnormal
development of structures
including theskin,hair,
nails,teeth, andsweat glands.
Hypohidrotic ectodermal
dysplasia is an extremely rare
genetic condition, affecting

Life Span
The life span for a person
diagnosed with the common
Ectodermal Dysplasias is usually
normal, and we have many
middle-aged to elderly adult
members.

Treatment
There are no cure for the
condition but symptoms can be
managed.

Management
Management is multidisciplinary and requires
evaluation by orthopedic, plastic and
dental surgeons, ophthalmologists,
dermatologists, and speech therapists.
Surgery allows correction of orofacial and
dental abnormalities and improves the
function and appearance of the limbs.
Ophthalmologic care (e.g. artificial tears in
case of dry eyes) is necessary to avoid
complications such as cataract and corneal
scarring. Hot temperatures, heavy clothing,
and exercise must be avoided in case of
hypohidrosis.

Client
Model with rare genetic disorder which has
left her bald and without any teeth
reveals how embracing her unique
appearance helped to boost her fashion
career
Melanie Gaydos, 27, has ectodermal
dysplasia, a genetic disorder that affects the
growth of teeth, nails, pores, cartilage and
bones
Despite her condition, Melanie has forged a
successful career as a model, and even
counts Miley Cyrus as a fan

Melanie Gaydos