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Article

Allelic loss underlies type 2 segmental Hailey-Hailey disease, providing molecular confirmation of a novel genetic concept.

The Journal of clinical investigation - 1 Nov 2004

Poblete-Gutiérrez Pamela, Wiederholt Tonio, König Arne, Jugert Frank K, Marquardt Yvonne, Rübben Albert, Merk Hans F, Happle Rudolf, Frank Jorge

Abstract excerpt

Hailey-Hailey disease (HHD) is an autosomal dominant trait characterized by erythematous and oozing skin lesions preponderantly involving the body folds. In the present unusual case, however, unilateral segmental areas along the lines of Blaschko showing a rather severe involvement were superimposed on the ordinary symmetrical phenotype. Based on this observation and similar forms of mosaicism as reported in...

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Identifiers

PMID: 15545997
DOI: 10.1172/JCI21791
PMCID: PMC525740

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Source receipt: pubmed, retrieved 7 Sept 2026.

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