focal dermal hypoplasia; Goltz syndrome

Epidemiology

• rare
• 90% female

Pathology

• unilateral or asymmetric skin lesions occur following lyonization of the X chromosome
• ectodermal & mesodermal dysplasia

Genetics

• due to variants in the PORCN gene at Xp11.23

Clinical manifestations

• skin manifestations
  • telangiectasia
  • papilloma
  • nodular fat herniation
  • linear hypopigmentation &/or hyperpigmentation often following Blaschko lines
• with or without skeletal abnormalities
  • ectrodactyly, oligodactyly, osteopathic striae, & syndactyly
• other developmental abnormalities

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Management

• no specific therapy
• symptomatic treatment
  • relieve pruritus
  • prevent infections

More general terms

• skin disease (dermatologic disorder, dermatopathy, dermatosis)

Additional terms

• nevoid basal cell carcinoma syndrome; basal cell nevus syndrome; Gorlin-Goltz syndrome