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

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.
AuthorsM A M Van Steensel, M Van Geel, P M Steijlen
JournalThe British journal of dermatology (Br J Dermatol) Vol. 147 Issue 3 Pg. 575-81 (Sep 2002) ISSN: 0007-0963 [Print] England
PMID12207605 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • Cathepsin C
Topics
  • 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

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