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Buschke-Ollendorff syndrome; dermatofibrosis, disseminated with osteopoikilosis; osteopathia consensans disseminata
named for Abraham Buschke & Helene Ollendorff Curth
Pathology:
- associated with defects in copper metabolism & lysyl oxidase or defects in the microfibril (defects in fibrillin, or fibullin) affecting elastic fibers
- osteopoikilosis
- circumscribed sclerotic areas occur near the ends of many bones of no pathologic consequence
- spotty skin lesions & connective tissue nevi are found in many cases
Genetics:
- associated with defects in LEMD3
General
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 166700
References
- Wikipedia - Buschke-Ollendorff syndrome
http://en.wikipedia.org/wiki/Buschke-Ollendorff_syndrome
- OMIM :accession 166700