Document Detail

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.
MedLine Citation:
PMID:  14639409     Owner:  NLM     Status:  MEDLINE    
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 an 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.
Torsten Ehrig; Clay J Cockerell
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Publication Detail:
Type:  Case Reports; Journal Article; Review    
Journal Detail:
Title:  Journal of the American Academy of Dermatology     Volume:  49     ISSN:  0190-9622     ISO Abbreviation:  J. Am. Acad. Dermatol.     Publication Date:  2003 Dec 
Date Detail:
Created Date:  2003-11-25     Completed Date:  2004-01-06     Revised Date:  2005-11-16    
Medline Journal Info:
Nlm Unique ID:  7907132     Medline TA:  J Am Acad Dermatol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1163-6     Citation Subset:  IM    
Department of Dermatology, University of Texas Southwestern Medical School, Dallas, TX, USA.
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MeSH Terms
Genes, Dominant
Loss of Heterozygosity
Middle Aged
Osteopoikilosis / genetics*,  pathology
Skin Diseases / genetics*,  pathology

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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