Focal dermal hypoplasia.
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.
D000015:Abnormalities, Multiple / Q000473:pathology; D001842:Bone and Bones / Q000473:pathology; D004476:Ectodermal Dysplasia / Q000235:genetics / Q000473:pathology*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D008648:Mesoderm / Q000473:pathology; D012867:Skin / Q000473:pathology