Epidermolytic palmoplantar keratoderma of Vörner

Re-evaluation of Vörner's original family and identification of a novel keratin 9 mutation

Wolfgang Küster, André Reis, Hans Hennies

Research output: Contribution to journalArticle

36 Citations (Scopus)

Abstract

In 1901, Hans Vörner observed a family with a diffuse non-transgredient palmoplantar keratoderma of autosomal dominant inheritance. Histopathologically, he found epidermolytic hyperkeratosis as a characteristic sign and diagnostic criterion of this disorder. We performed a follow-up study of the family originally seen by Vörner in 1901 with clinical, histopathological, and molecular investigations. Clinically, affected family members showed the typical diffuse keratoses over the entire surface of the palms and soles sharply bordered by red margins. A mycotic infection was additionally found in two patients examined. Histopathological investigations confirmed epidermolytic hyperkeratosis. Molecular studies revealed a novel mutation in keratin 9, N160I, in patients from the family. The mutation in the coil-1A domain is thought to have a dominant negative effect on the assembly of keratin intermediate filaments, explaining the dominant inheritance of the phenotype. These findings give further evidence that palmoplantar keratoderma of Vörner represents the same entity as palmoplantar keratoderma of Thost, which was recently re-evaluated in Thost's original family and shown to be caused by a similar mutation, R162 W, in the same segment of keratin 9.

Original languageEnglish
Pages (from-to)268-272
Number of pages5
JournalArchives of Dermatological Research
Volume294
Issue number6
DOIs
Publication statusPublished - 1 Jan 2002
Externally publishedYes

Fingerprint

Keratoderma, Palmoplantar, Epidermolytic
Keratin-9
Palmoplantar Keratoderma
Epidermolytic Hyperkeratosis
Mutation
Keratosis
Intermediate Filaments
Keratins
Phenotype
Infection

Cite this

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title = "Epidermolytic palmoplantar keratoderma of V{\"o}rner: Re-evaluation of V{\"o}rner's original family and identification of a novel keratin 9 mutation",
abstract = "In 1901, Hans V{\"o}rner observed a family with a diffuse non-transgredient palmoplantar keratoderma of autosomal dominant inheritance. Histopathologically, he found epidermolytic hyperkeratosis as a characteristic sign and diagnostic criterion of this disorder. We performed a follow-up study of the family originally seen by V{\"o}rner in 1901 with clinical, histopathological, and molecular investigations. Clinically, affected family members showed the typical diffuse keratoses over the entire surface of the palms and soles sharply bordered by red margins. A mycotic infection was additionally found in two patients examined. Histopathological investigations confirmed epidermolytic hyperkeratosis. Molecular studies revealed a novel mutation in keratin 9, N160I, in patients from the family. The mutation in the coil-1A domain is thought to have a dominant negative effect on the assembly of keratin intermediate filaments, explaining the dominant inheritance of the phenotype. These findings give further evidence that palmoplantar keratoderma of V{\"o}rner represents the same entity as palmoplantar keratoderma of Thost, which was recently re-evaluated in Thost's original family and shown to be caused by a similar mutation, R162 W, in the same segment of keratin 9.",
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Epidermolytic palmoplantar keratoderma of Vörner : Re-evaluation of Vörner's original family and identification of a novel keratin 9 mutation. / Küster, Wolfgang; Reis, André; Hennies, Hans.

In: Archives of Dermatological Research, Vol. 294, No. 6, 01.01.2002, p. 268-272.

Research output: Contribution to journalArticle

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