Focal palmoplantar and gingival keratosis: a distinct palmoplantar ectodermal dysplasia with epidermolytic alterations but lack of mutations in known keratins

Item Type:	Article
Title:	Focal palmoplantar and gingival keratosis: a distinct palmoplantar ectodermal dysplasia with epidermolytic alterations but lack of mutations in known keratins
Creators Name:	Kolde, G. and Hennies, H.C. and Bethke, G. and Reichart, P.A.
Abstract:	Focal palmoplantar and gingival keratosis is a rare autosomal dominant disease whose clinical features, and in particular, pathologic alterations and molecular etiology remain to be well defined. Recently we observed a German family affected by the disease in at least 3 consecutive generations. The 4 patients examined showed circumscribed and painful hyperkeratosis at the weight-bearing plantar skin since infancy, rather mild palmar hyperkeratosis, and continuous leukokeratosis confined to the maxillary and mandibulary attached gingiva. There were no nail changes, subungeal keratoses, or follicular hyperkeratosis. Light and electron microscopy of the plantar and gingival lesions revealed alterations of epidermolytic hyperkeratosis. Mutations in the known keratin genes were excluded by linkage analysis using microsatellite markers. We conclude that focal palmoplantar and gingival keratosis is a clinically distinct palmoplantar ectodermal dysplasia that is pathologically characterized by epidermolytic alterations, but is most probably not caused by a mutation in a keratin gene.
Keywords:	Ectodermal Dysplasia, Genetic Linkage, Genotype, Gingival Diseases, Keratins, Keratosis, Mutation, Palmoplantar Keratoderma, Pedigree
Source:	Journal of the American Academy of Dermatology
ISSN:	0190-9622
Volume:	52
Page Range:	403-409
Date:	1 March 2005
Official Publication:	https://doi.org/10.1016/j.jaad.2004.07.029
PubMed:	View item in PubMed

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