Focal dermal hypoplasia

J Natl Med Assoc. 1979 Jan;71(1):69-70.

Abstract

A case of focal dermal hypoplasia (FDH) or Goltz syndrome is described. The patient is a black female infant whose syndrome was first diagnosed at birth. This is a disorder of the mesoectoderm which is manifested by pigmentary skin changes similar to other disease entities, eg, incontinentia pigmenti and Rothmund-Thomson disease, but it is easily confirmed by specific significant histologic findings. The characteristic features are all noted in this infant throughout her follow-up, viz, atrophy and linear pigmentation of the skin, localized alopecia, papilloma and marked syndactyly. FDH is an X-linked condition and any physician caring for children should consider this diagnosis of the illness of the patient (especially female) who presents with the above dermal and skeletal changes.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / pathology
  • Bone and Bones / pathology
  • Ectodermal Dysplasia / genetics
  • Ectodermal Dysplasia / pathology*
  • Female
  • Follow-Up Studies
  • Humans
  • Infant
  • Mesoderm / pathology
  • Skin / pathology