FOCAL DERMAL HYPOPLASIA

By Gary M. White, MD

Focal dermal hypoplasia also known as Goltz Syndrome


Focal dermal hypoplasia (FDH), also known as Goltz Syndrome, is an X-linked dominantly inherited syndrome characterized by various dermal defects. 88% of patients are female. It is associated with mutations in the PORCN gene, a regulator of Wnt signaling proteins.

Clinical

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.

Treatment

Genetic counseling is important. 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 [JAMA Derm 2017;153;1292]. A dentist may be needed. To date, there is no gene therapy specifically targeting the PORCN mutation.

Additional Pictures

Focal dermal hypoplasia also known as Goltz Syndrome

References

Papillomatosis of the digits JAAD Case Rep. 2016 Jul; 2(4): 304–306.

Genital Papillomatosis. An Bras Dermatolv.88(4); Jul-Aug 2013

Indian Dermatol Online J 2013;4:241-3

Linear erosions at birth that healed gradually within a few days, leaving behind hypopigmentation. Indian J Dermatol 2015;60:106

A newborn female infant was noted at birth to have erosions on her left leg, left neck, abdomen, and ear. At 4 weeks of age, she was found to have erythematous, atrophic streaks along Blaschko's lines and several soft skin-colored papules on the left leg. An atrophic skin lesion resembling striae distensae was present on the right abdomen. Syndactyly and a subtle facial asymmetry were noted. JAMA Derm 2016;152;209.


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