Focal dermal hypoplasia (FDH), also known as Goltz Syndrome, is a rare congenital disorder caused by variants in the PORCN gene at Xp11.23. PORCN encodes an O-acyltransferase, which is essential for the palmitoylation and secretion of Wnt-signaling proteins
Clinically one sees congenital linear atrophic skin lesions, soft, reddish-yellow nodules (herniations of fat, linear hyper and hypopigmented streaks following Blaschko's lines, and raspberry papillomas of the genitalia. Recurrent periorofacial, perineal, vulvar, and perianal distributions of papillomas as well as esophageal papillomatosis may be seen. Syndactyly, polydactyly, ectrodactyly (lobster claw) and absence of digits may be associated. Osteopathia striata (vertical stripes on the metaphyses of the long bones) may be seen. Dental anomalies may occur.
A multidisciplinary approach involving the dermatologist, ophthalmologist and orthopedist is important. A dentist may be needed. To date, there is no gene therapy specifically targeting the PORCN mutation. Genetic counseling should be done.
The 585 nm laser has been shown to be helpful in reducing the erythema, pruritus, and burning of the skin. Ablative fractional laser resurfacing is being investigated and has shown to thicken dermal collagen and provide skin tightening and symptomatic relief. Freezing or surgical removal of papillomas has been done.
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