Haim-Munk syndrome

Definition:

Haim-Munk syndrome is a rare autosomal recessive disorder of keratinization characterized by palmoplantar hyperkeratosis and marked periodontitis. Additional features include onychogryphosis, arachnodactyly, nail dysplasia, pes planus, and acroosteolysis. Mutations in cathepsin C gene cause this disease.

References:

[1]. Peter H Itin, et al. Palmoplantar keratodermas. Clin Dermatol. 2005 Jan-Feb;23(1):15-22. [Content Brief]

[2]. T C Hart, et al. Haim-Munk syndrome and Papillon-Lefèvre syndrome are allelic mutations in cathepsin C. J Med Genet. 2000 Feb;37(2):88-94. [Content Brief]

[3]. T C Hart, et al. Localisation of a gene for prepubertal periodontitis to chromosome 11q14 and identification of a cathepsin C gene mutation. J Med Genet. 2000 Feb;37(2):95-101. [Content Brief]

[4]. V F Cury, et al. A homozygous cathepsin C mutation associated with Haim-Munk syndrome. Br J Dermatol. 2005 Feb;152(2):353-6. [Content Brief]

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