Buschke-Ollendorff syndrome: Report of a case and interpretation of the clinical phenotype as a type 2 segmental manifestation of an autosomal dominant skin disease

Torsten Ehrig, Clay J. Cockerell

Research output: Contribution to journalArticle

27 Scopus citations

Abstract

Buschke-Ollendorff syndrome is a rare, autosomal dominant disease consisting of osteopoikilosis and skin manifestations. A case is reported, and the literature is reviewed with special reference to the clinical distribution patterns of skin lesions. The 2 main types of skin manifestations in this entity are widely disseminated, symmetrically distributed papules and localized, asymmetrically distributed plaques. Both types of lesions have been observed within the same family or within the same person. This particular phenotype can be explained by type 2 segmental manifestation of autosomal dominant cutaneous trait: Symmetrically distributed papules are a manifestation of the heterozygous state acquired by inheritance, and asymmetrically distributed plaques develop in areas that have undergone a somatic mutational event of the wild-type allele at an early developmental stage, the result being loss of heterozygosity.

Original languageEnglish (US)
Pages (from-to)1163-1166
Number of pages4
JournalJournal of the American Academy of Dermatology
Volume49
Issue number6
DOIs
StatePublished - Dec 2003

ASJC Scopus subject areas

  • Dermatology

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