Histopathologic examination of the biopsy specimen revealed the characteristic absence of dermal collagen, with nests of adipose tissue extending high into the dermis. Ophthalmologic examination, blood tests, karyotype, skeletal survey, and magnetic resonance imaging of the patient's head revealed no abnormalities. Based on the characteristic clinical and microscopic features, the patient was diagnosed as having FDH, or Goltz syndrome.
Focal dermal hypoplasia, which was first described by Goltz1 in 1962, is a complex ectomesodermal dysplasia that is characterized by various cutaneous, skeletal, central nervous system, ocular, dental, gastrointestinal, genitourinary, and soft tissue defects. It is an inherited disorder that occurs predominantly in females (88% of cases) and derives its name from the characteristic linear or Blaschkoid atrophic or papular lesions that are present at birth. More than 200 cases have been reported in the literature, with approximately 10% of cases occurring in males.2
Erythematous Atrophic Macules and Papules Following the Lines of Blaschko. Arch Dermatol. 2007;143(1):109-114. doi:10.1001/archderm.143.1.109-g