Focal facial dermal dysplasia

Focal Facial Dermal Dysplasia is a rare genetic disorder that affects the development of the facial dermis. It is characterized by bitemporal or preauricular skin lesions, apparent at birth or shortly thereafter. These lesions are typically hairless and scar-like, and may have associated pigmentation changes. Other features may include distichiasis (double row of eyelashes), partial or complete absence of the Meibomian glands, and/or absence of the lacrimal puncta.

Signs and Symptoms

The primary symptom of Focal Facial Dermal Dysplasia is the presence of bitemporal or preauricular skin lesions. These lesions are typically hairless and scar-like, and may have associated pigmentation changes. Other features may include distichiasis (double row of eyelashes), partial or complete absence of the Meibomian glands, and/or absence of the lacrimal puncta.

Causes

Focal Facial Dermal Dysplasia is a genetic disorder caused by mutations in the ADAM17 gene. This gene provides instructions for making a protein that is involved in the regulation of various cellular processes, including cell proliferation, cell differentiation, and apoptosis (programmed cell death).

Diagnosis

Diagnosis of Focal Facial Dermal Dysplasia is typically based on the clinical features and confirmed by genetic testing. Genetic testing can identify mutations in the ADAM17 gene, confirming the diagnosis.

Treatment

There is currently no cure for Focal Facial Dermal Dysplasia. Treatment is symptomatic and supportive, and may include surgical correction of the skin lesions and other associated features.

Prognosis

The prognosis for individuals with Focal Facial Dermal Dysplasia varies. The disorder does not typically affect lifespan, but the severity of symptoms can vary widely among affected individuals.

See Also

• Genetic Disorders
• Dermatology
• ADAM17

Focal facial dermal dysplasia Resources
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