New syndrome of hypotrichosis, striate palmoplantar keratoderma, acro-osteolysis and periodontitis not due to mutations in cathepsin C.
SourceBritish Journal of Dermatology, 147, 3, (2002), pp. 575-581
Article / Letter to editor
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British Journal of Dermatology
SubjectEpidermal differentiation and cutaneous inflammation; Epidermale differentiatie en cutane ontstekingsprocessen
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-Lefevre 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.
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