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Ectodermal DysplasiaReported by: Eguillion, Monica
C.1ECTODERMALGreek word ektos meaning "outside" derma, meaning
"skin."
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.NATUREThere are 2 major types of this condition depending
on the number and functionality of the sweat glands: X-linked
anhidrotic or hypohidrotic, where sweat glands are either absent or
significantly reduced in number (Christ-Siemens-Touraine syndrome),
and 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 InheritanceHED 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 X-linked 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 be carriers for XLHED.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
PhenotypeHair: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 (peg-shaped 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 Ratiois 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 around 7,000
people.
Life SpanThe life span for a person diagnosed with the common
Ectodermal Dysplasias is usually normal, and we have many
middle-aged to elderly adult members.
TreatmentThere are no cure for the condition but symptoms can be
managed.
ManagementManagement 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.ClientModel with rare genetic disorder which has
left her bald and without any teeth reveals how embracing her
unique appearance helped to boost her fashion careerMelanie Gaydos,
27, has ectodermal dysplasia, a genetic disorder that affects the
growth of teeth, nails, pores, cartilage and bonesDespite her
condition, Melanie has forged a successful career as a model, and
even counts Miley Cyrus as a fanMelanie says her medical condition
'doesn't bother' her and 'it never did'Melanie Gaydos
