Dyskeratosis congenita: a case report

J Dermatol. 1993 Jan;20(1):56-8. doi: 10.1111/j.1346-8138.1993.tb03830.x.

Abstract

Dyskeratosis congenita, an uncommon situation in females, is described in a 30-year-old woman. The expression of the disease was partial and was characterized by mottled pigmentation, nail dystrophy, palmoplantar keratoderma, and hyperhidrosis.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Female
  • Genetic Linkage*
  • Humans
  • Hyperhidrosis / genetics
  • Keratoderma, Palmoplantar / genetics
  • Nail Diseases / genetics
  • Pigmentation Disorders / genetics
  • Skin Diseases / genetics*
  • Syndrome
  • X Chromosome*