Cathepsin-C mutation in an individual with phenotypic features of Haim-Munk syndrome: A case report
McCarthy, Rebecca L. Gnanappiragasam, Dushyanth Scorer, Matthew Taylor, Marisa O'Toole, Edel A.
McCarthy, Rebecca L.
Gnanappiragasam, Dushyanth
Scorer, Matthew
Taylor, Marisa
O'Toole, Edel A.
Abstract
Haim-Munk syndrome and Papillon-Lefèvre syndrome are rare genodermatoses caused by mutations in the cathepsin C (CTSC) gene. They both cause palmoplantar keratoderma and are associated with periodontitis. Existing literature reports additional Haim-Munk syndrome characteristics including pes planus, radiographic deformity of the fingers and arachnodactyly, whilst Papillon-Lefèvre syndrome is associated with intracranial calcification and susceptibility to infection. We report a variant in CTSC which has previously been described in Papillon-Lefèvre syndrome but has not previously been reported in Haim-Munk syndrome. Our patient's presentation supports the suggestion that Papillon-Lefèvre syndrome and Haim-Munk syndrome are a spectrum of diseases which are caused by CTSC mutations, with significant overlap in their phenotypic features. This genetic report adds to the literature to improve our understanding of these rare, clinically related syndromes.
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26/07/2023
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McCarthy, R. L., Gnanappiragasam, D., Scorer, M., Taylor, M., & O'Toole, E. A. (2023). Cathepsin-C mutation in an individual with phenotypic features of Haim-Munk syndrome: A case report. Clinical and experimental dermatology, llad241. Advance online publication. https://doi.org/10.1093/ced/llad241