Buschke-Ollendorff syndrome
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
Also Known As:
Buschke Ollendorff syndrome; Dermatofibrosis lenticularis disseminata with osteopoikilosis; Dermatofibrosis, disseminated, with osteopoikilosis; Dermatoosteopoikilosis; Osteopathia condensans disseminata
Networked: 13
relevant articles (0 outcomes,
1 trials/studies)
Disease Context: Research Results
Related Diseases
Experts
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2. | Xue, Ruzeng:
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3. | Yang, Chao:
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4. | Bodak, Nathalie:
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5. | Bodemer, Christine:
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6. | Delanoé, Phillippe:
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7. | Fraitag, Sylvie:
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8. | Hamel, Dominique:
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9. | Lemerrer, Martine:
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10. | Marrou, Karine:
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Drugs and Biologics
Drugs and Important Biological Agents (IBA) related to Buschke-Ollendorff syndrome: