Dermatologic, periodontal, and skeletal manifestations of Haim-Munk syndrome in two siblings

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Abstract

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. © 2008 American Academy of Dermatology, Inc.

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Janjua, S. A., Iftikhar, N., Hussain, I., & Khachemoune, A. (2008). Dermatologic, periodontal, and skeletal manifestations of Haim-Munk syndrome in two siblings. Journal of the American Academy of Dermatology, 58(2), 339–344. https://doi.org/10.1016/j.jaad.2007.08.004

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