New syndrome of hypotrichosis, striate palmoplantar keratoderma, acro-osteolysis and periodontitis not due to mutations in cathepsin C

Br J Dermatol. 2002 Sep;147(3):575-81. doi: 10.1046/j.1365-2133.2002.04840.x.

Abstract

We report a mother and daughter with a syndrome of hypotrichosis, striate palmoplantar keratoderma, onychogryphosis, periodontitis, acro-osteolysis and psoriasis-like skin lesions. The syndrome resembles Papillon-Lefèvre syndrome (PLS), characterized by palmoplantar keratoderma, periodontitis and psoriasis-like skin lesions, and particularly Haim-Munk syndrome, an allelic variant of PLS with acro-osteolysis. Both are caused by mutations in the cathepsin C gene (CTSC). Our patients differ in the unique nature of the palmar keratoderma and hypotrichosis. We have sequenced CTSC in the mother without finding mutations in either coding or non-coding parts of the gene. We propose that our patients suffer from a new syndrome possibly caused by mutations in a gene that has a functional or structural relation with CTSC.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Cathepsin C / genetics*
  • Female
  • Humans
  • Hypotrichosis / genetics*
  • Keratoderma, Palmoplantar / genetics*
  • Middle Aged
  • Mutation*
  • Osteolysis, Essential / genetics
  • Pedigree
  • Periodontitis / genetics
  • Skin Diseases, Genetic / genetics*
  • Syndrome

Substances

  • Cathepsin C