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Focal palmoplantar and gingival keratosis: a distinct palmoplantar ectodermal dysplasia with epidermolytic alterations but lack of mutations in known keratins.
J Am Acad Dermatol. 2005 Mar; 52(3 Pt 1):403-9.JA

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.

Authors+Show Affiliations

Departments of Dermatology and Allergy, Charité-University Medicine of Berlin, Schumannstr. 20/21, 10117 Berlin/Germany. gerhard.kolde@charite.deNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

15761417

Citation

Kolde, Gerhard, et al. "Focal Palmoplantar and Gingival Keratosis: a Distinct Palmoplantar Ectodermal Dysplasia With Epidermolytic Alterations but Lack of Mutations in Known Keratins." Journal of the American Academy of Dermatology, vol. 52, no. 3 Pt 1, 2005, pp. 403-9.
Kolde G, Hennies HC, Bethke G, et al. Focal palmoplantar and gingival keratosis: a distinct palmoplantar ectodermal dysplasia with epidermolytic alterations but lack of mutations in known keratins. J Am Acad Dermatol. 2005;52(3 Pt 1):403-9.
Kolde, G., Hennies, H. C., Bethke, G., & Reichart, P. A. (2005). Focal palmoplantar and gingival keratosis: a distinct palmoplantar ectodermal dysplasia with epidermolytic alterations but lack of mutations in known keratins. Journal of the American Academy of Dermatology, 52(3 Pt 1), 403-9.
Kolde G, et al. Focal Palmoplantar and Gingival Keratosis: a Distinct Palmoplantar Ectodermal Dysplasia With Epidermolytic Alterations but Lack of Mutations in Known Keratins. J Am Acad Dermatol. 2005;52(3 Pt 1):403-9. PubMed PMID: 15761417.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Focal palmoplantar and gingival keratosis: 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, PY - 2005/3/12/pubmed PY - 2005/9/22/medline PY - 2005/3/12/entrez SP - 403 EP - 9 JF - Journal of the American Academy of Dermatology JO - J Am Acad Dermatol VL - 52 IS - 3 Pt 1 N2 - 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. SN - 1097-6787 UR - https://www.unboundmedicine.com/medline/citation/15761417/Focal_palmoplantar_and_gingival_keratosis:_a_distinct_palmoplantar_ectodermal_dysplasia_with_epidermolytic_alterations_but_lack_of_mutations_in_known_keratins_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0190962204019395 DB - PRIME DP - Unbound Medicine ER -