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Focal dermal hypoplasia

R R Sule1, D J Dhumawat, M B Gharpuray

  • 1Department of Dermatology, Sassoon General Hospital, Pune, India.

Cutis
|June 1, 1994
PubMed
Summary
This summary is machine-generated.

Focal dermal hypoplasia, a rare X-linked dominant disorder, typically affects females. This report details a rare male case with skin, eye, and brain abnormalities, highlighting unusual genetic presentations.

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Area of Science:

  • Genetics
  • Developmental Biology
  • Dermatology

Background:

  • Focal dermal hypoplasia (FDH) is a rare genetic disorder impacting ectodermal and mesodermal tissues.
  • It is predominantly inherited in an X-linked dominant pattern, primarily affecting females.
  • Male cases are exceptionally rare and often linked to specific genetic mutations.