Ontology highlight
ABSTRACT:
SUBMITTER: Kurban M
PROVIDER: S-EPMC2921986 | biostudies-literature | 2010 Aug
REPOSITORIES: biostudies-literature
Kurban M M Cheng T T Wajid M M Kiuru M M Shimomura Y Y Christiano A M AM
Journal of the European Academy of Dermatology and Venereology : JEADV 20100304 8
<h4>Background</h4>Papillon-Lefevre syndrome (PLS; OMlM 245000) is an autosomal recessive disease caused by mutations in cathepsin C (CTSC) gene and is characterized by palmoplantar keratoderma, psoriasiform lesion over the extensor surfaces and gingivitis followed by loss of teeth. CTSC gene is expressed in several tissues including the skin and cells of the immune system. In the skin, CTSC plays a role in differentiation and desquamation, whereas in the immune system, it activates serine prote ...[more]