Haim Munk syndrome: report of two siblings of northern India treated with acitretin

Indian J Dermatol Venereol Leprol. 2011 Mar-Apr;77(2):252. doi: 10.4103/0378-6323.77487.

Abstract

Haim Munk Syndrome (HMS) is the allelic mutation of exon 6 codon in cathepsin C gene. Here, we present two cases of same family with HMS having all the cardinal features of HMS which includes palmo plantar keratoderma and periodontitis along with arachnodactyly, acroosteolysis, onychogryphosis, and marked osteopenia on hand wrist radiographs. Both the siblings were treated with cotrimoxazole, acetretin and topical keratolytics and followed up over a period of one year, showed remarkable improvement in palmo plantar keratoderma and periodontitis.

Publication types

  • Case Reports

MeSH terms

  • Acitretin / therapeutic use*
  • Cathepsin C / genetics
  • Child
  • Female
  • Humans
  • India / ethnology
  • Male
  • Papillon-Lefevre Disease / diagnosis
  • Papillon-Lefevre Disease / drug therapy*
  • Papillon-Lefevre Disease / ethnology
  • Point Mutation
  • Siblings* / ethnology
  • Syndrome

Substances

  • CTSC protein, human
  • Cathepsin C
  • Acitretin