Focal dermal hypoplasia syndrome. Case report and literature review

J Am Acad Dermatol. 1983 Sep;9(3):443-51. doi: 10.1016/s0190-9622(83)70157-x.


Focal dermal hypoplasia is a rare mesoectodermal hypoplasia found primarily in females. It is characterized by linear hypoplasia of the skin and tumors of fat or lipomatous lesions. There are significant defects of the skeleton, dental structures, eyes, soft tissues, and skin. A rare example of a young man with this syndrome is reported, and a review of 125 cases from the literature is presented.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Adult
  • Atrophy
  • Humans
  • Male
  • Skin / pathology
  • Skin Abnormalities*
  • Syndrome