Osteopoikilosis (Subscribe)  

#166700 BUSCHKE-OLLENDORFF SYNDROME Alternative titles; BOS DERMATOOSTEOPOIKILOSIS DERMATOFIBROSIS, DISSEMINATED, WITH OSTEOPOIKILOSIS DERMATOFIBROSIS LENTICULARIS DISSEMINATA WITH OSTEOPOIKILOSIS OSTEOPATHIA CONDENSANS DISSEMINATA OSTEOPOIKILOSIS, ISOLATED, INCLUDED Gene map locus 12q14 A number sign (#) is used with this entry because of evidence that osteopoikilosis with or without the skin manifestations of Buschke-Ollendorff syndrome and with or without melorheostosis (155950) can be...

Background: Buschke-Ollendorff syndrome is a rare hereditary disorder of connective tissue. It is inherited as a pleiotropic autosomal dominant trait with incomplete penetrance. Albers-Schönberg described this syndrome in 1915, and Buschke and Mme Ollendorff described it in 1928. Buschke-Ollendorff is considered to be a hamartoma, an association of osteopoikilosis and...

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Osteopoikilosis is a condition of unknown origin which is transmitted in an autosomal dominant manner with high penetrance (meaning patients with the gene usually have the condition). Some cases are spontaneous and there is no family history. Males and females are equally affected. Patients are asymptomatic, and laboratory exams are...

rare, autosomal dominant bone disorder
* multiple, small, circumscribed round or ovoid areas of increased bone density, widely distributed, caused by condensations of the spongiosa
* NO symptoms
associated with:
* dermatofibrosis lenticularis disseminata
* scleroderma
* syndactyly
* dwarfism
* endocrine abnormalities
* melorrheostosis
* cleft palate

"An asymptomatic, autosomal dominant trait in which pea-sized sclerotic spots, prominent in the metaphyseal area, are accompanied by unique cutaneous lesions. These are yellowish papules or plaques with increased elastin content. (From Cecil Textbook of Medicine, 19th ed, pp1434-35)" aka/or Buschke-Ollendorf syndrome aka/or Dermatofibrosis lenticularis aka/or Disseminated dermatofibrosis aka/or Osteodermatopoikilosis aka/or Osteopathia condensans disseminata may cause or feature X-ray abnormalities Osteosclerosis may be...

Enostoses (bone islands) form when endochondral ossification proceeds normally, but the mature bony trabeculae fail to properly remodel. Osteopoikilosis (osteopathia condensans disseminata, or “spotted bone disease�), like enostosis or osteopathia striata, is typically an autosomal dominant, asymptomatic disorder characterized by an abnormality in the endochondral bone maturation process. Osteopoikilosis results...

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literally translated means spotted bones; - condition is a radiologic curiosity that is transmitted as autosomal dominant trait with a high degree of penetrance; - bony lesions are typically asymptomatic

Search String "Osteopoikilosis"[MAJR]