MeSH Browser

MeSH Supplementary: Buschke-Ollendorff syndrome
Unique ID: C537415
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C537415
Entry Term(s): Buschke Ollendorff syndrome; Dermatofibrosis lenticularis disseminata with osteopoikilosis; Dermatofibrosis, disseminated, with osteopoikilosis; Dermatoosteopoikilosis; Osteopathia condensans disseminata
Heading Mapped to: *Osteopoikilosis; *Skin Diseases, Genetic
Frequency: 43
Note: An autosomal dominant connective tissue disorder characterized by multiple subcutaneous NEVI or nodules. They may be either ELASTIN - rich (elastoma) or COLLAGEN -rich (dermatofibrosis lenticularis disseminata) on histologic examination. The lesions are usually nontender and firm. Affected individuals also have osteopoikilosis in the EPIPHYSES and metaphyses of long bones, wrist, foot, ankle, pelvis, and scapula. Some individuals have both skin and bone manifestations, whereas others may lack skin or bone manifestations. Mutations in the LEMD3 gene have been identified. OMIM: 166700
Date of Entry: 2010/08/25
Revision Date: 2015/08/17

Buschke-Ollendorff syndrome MeSH Supplementary Concept Data 2024