Focal dermal hypoplasia
Focal Dermal Hypoplasia (pronounced: FOH-kal DER-mal HY-po-PLA-zee-uh), also known as Goltz syndrome, is a rare genetic disorder primarily affecting the skin, skeleton, eyes, and face.
Etymology
The term "Focal Dermal Hypoplasia" is derived from the Greek words "fokos" (focus), "derma" (skin), and "hypoplasia" (underdevelopment), indicating the localized underdevelopment of the skin that characterizes this condition.
Definition
Focal Dermal Hypoplasia is a multisystem disorder characterized by skin abnormalities, skeletal malformations, and ocular (eye) anomalies. It is caused by mutations in the PORCN gene and is inherited in an X-linked dominant manner.
Symptoms
The symptoms of Focal Dermal Hypoplasia can vary greatly among affected individuals. They may include:
- Skin abnormalities such as atrophic and hypopigmented (light-colored) patches of skin, small clusters of blood vessels on the skin (telangiectasias), and wart-like growths.
- Skeletal malformations including short stature, facial asymmetry, and abnormalities of the hands and feet.
- Ocular anomalies such as microphthalmia (small eyes), coloboma (a hole in the eye), and strabismus (crossed eyes).
Diagnosis
Diagnosis of Focal Dermal Hypoplasia is typically based on the presence of characteristic clinical features. Genetic testing can confirm the diagnosis.
Treatment
There is currently no cure for Focal Dermal Hypoplasia. Treatment is symptomatic and supportive, and may include physical therapy, special education, and surgery to correct skeletal and ocular abnormalities.
See Also
External links
- Medical encyclopedia article on Focal dermal hypoplasia
- Wikipedia's article - Focal dermal hypoplasia
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