Buschke-Ollendorff Syndrome | Zendy

Michelle Yadegari | Zendy; Michael P. Whyte | Zendy; Steven Mumm | Zendy; Robert Phelps | Zendy; Alan Shanske | Zendy; William G. Totty | Zendy; Steven R. Cohen | Zendy

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Buschke-Ollendorff Syndrome

Author(s) -

Michelle Yadegari,

Michael P. Whyte,

Steven Mumm,

Robert Phelps,

Alan Shanske,

William G. Totty,

Steven R. Cohen

Publication year - 2010

Publication title -

archives of dermatology

Language(s) - English

Resource type - Journals

eISSN - 1538-3652

pISSN - 0003-987X

DOI - 10.1001/archdermatol.2009.320

Subject(s) - medicine , pathology , osteochondrodysplasia , congenital disorder , hyperostosis , asymptomatic , osteosclerosis , anatomy , surgery

Buschke-Ollendorff syndrome (BOS), an autosomal dominant disorder, features small, acquired, asymptomatic, symmetrical foci of osteosclerosis detected radiographically in epimetaphyseal bone (osteopoikilosis) (OPK) together with connective tissue nevi or juvenile elastomas. Heterozygous, loss-of-function, germline mutation in the LEMD3 gene (which encodes an inner nuclear membrane protein called LEMD3, or MAN1) has been repeatedly documented in patients with BOS or OPK.

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