New syndrome of hypotrichosis, striate palmoplantar keratoderma, acro-osteolysis and periodontitis not due to mutations in cathepsin C.
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.
Department of Dermatology, University Medical Centre St Radboud Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands. m.vansteensel@derma.azn.nl
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D000293:Adolescent; D020789:Cathepsin C / Q000235:genetics*; D005260:Female; D006801:Humans; D007039:Hypotrichosis / Q000235:genetics*; D007645:Keratoderma, Palmoplantar / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D010015:Osteolysis, Essential / Q000235:genetics; D010375:Pedigree; D010518:Periodontitis / Q000235:genetics; D012873:Skin Diseases, Genetic / Q000235:genetics*; D013577:Syndrome
D020789:Cathepsin C