Haim-Munk syndrome is an extremely rare autosomal recessive disorder of keratinization characterized clinically by palmoplantar hyperkeratosis, severe early onset periodontitis, onychogryphosis, pes planus, arachnodactyly, and acro-osteolysis. Recently, germline mutations in the lysosomal protease cathepsin C gene have been identified as the underlying genetic defect in Haim-Munk syndrome and in the clinically related disorders, Papillon-Lefèvre syndrome and prepubertal periodontitis.Le texte complet de cet article est disponible en PDF.
Abbreviations used : CTSC, HMS, PLS, PPK
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| Presented at the First International Congress of Teledermatology in Graz, Austria, on November 9, 2006.