A homozygous cathepsin C mutation associated with Haim-Munk syndrome.

  title={A homozygous cathepsin C mutation associated with Haim-Munk syndrome.},
  author={Vanessa F Cury and Ricardo Santiago Gomez and Janina Zuleica de Garcia e Costa and Eitan Friedman and Wolfanga L M Boson and Luiz De Marco},
  journal={The British journal of dermatology},
  volume={152 2},
Haim-Munk syndrome (HMS) is a rare autosomal recessive disorder characterized clinically by abnormal palmoplantar hyperkeratosis and destruction of the periodontium, with hallmarks of onychogryphosis and arachnodactyly. Germline mutations in the lysosomal protease cathepsin C gene (CTSC) have been described in a single patient with HMS and in several individuals with the clinically related disorder Papillon-Lefevre syndrome (PLS). We describe a patient with HMS. We have analysed the cathepsin C… CONTINUE READING


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