نتایج جستجو برای: keratoderma
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Pachyonychia congenita comprises a heterogeneous group of autosomal dominantly inherited conditions manifesting with characteristic nail thickening, palmoplantar keratoderma, follicular keratosis and oral manifestations like mucosal leukokeratosis. Less frequently epidermal cysts, hair-shaft abnormalities, natal teeth and laryngeal involvement may be seen. It is distributed almost evenly throug...
DEAR EDITOR, Loricrin keratoderma (syn. Camisa syndrome, OMIM 604117) is a rare autosomal dominant genodermatosis characterized by palmoplantar keratoderma and ichthyosis. It is caused by mutations in loricrin, a small basic protein synthesized in the upper granular layer, which becomes a major constituent of the cornified cell envelope. Seven distinct mutations in loricrin have been reported i...
Pachyonychia congenita (PC) is a rare genodermatosis affecting the nails, skin, oral mucosae, larynx, hair, and teeth. Pathogenic mutations in keratins K6a or K16 are associated with the PC-1 phenotype whereas K6b and K17 mutations are associated with the PC-2 phenotype. Analysis of clinical, pathological, and genetic data from the literature and two research registries reveal that >97% of PC c...
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