FOCAL DERMAL HYPOPLASIA

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

• 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.
• An X-linked dominantly inherited syndrome characterized by various dermal defects.
  
• 88% of patients are female.
  

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.

RegionalDerm

Homepage | Who is Dr. White? | Privacy Policy | FAQs | Use of Images | Contact Dr. White