Focal palmoplantar and gingival keratosis

A distinct palmoplantar ectodermal dysplasia with epidermolytic alterations but lack of mutations in known keratins

Gerhard Kolde, Hans Christian Hennies, Gudrun Bethke, Peter A. Reichart

Research output: Contribution to journalArticle

7 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)403-409
Number of pages7
JournalJournal of the American Academy of Dermatology
Volume52
Issue number3
DOIs
Publication statusPublished - Mar 2005
Externally publishedYes

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Ectodermal Dysplasia
Keratins
Epidermolytic Hyperkeratosis
Leukoplakia
Keratosis
Mutation
Weight-Bearing
Gingiva
Nails
Microsatellite Repeats
Genes
Electron Microscopy
Light
Skin
Keratosis focal palmoplantar gingival

Cite this

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title = "Focal palmoplantar and gingival keratosis: A distinct palmoplantar ectodermal dysplasia with epidermolytic alterations but lack of mutations in known keratins",
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.",
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T1 - Focal palmoplantar and gingival keratosis

T2 - A distinct palmoplantar ectodermal dysplasia with epidermolytic alterations but lack of mutations in known keratins

AU - Kolde, Gerhard

AU - Hennies, Hans Christian

AU - Bethke, Gudrun

AU - Reichart, Peter A.

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AB - 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.

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