Osteopoikilosis was first described by Albers-Schonberg in 1915. It is a benign, usually asymptomatic condition diagnosed radiographically by the presence of multiple symmetrical circular/ovoid sclerotic opacities of the ischia, pubic bones, and the epimetaphysial regions of the short tubular bones. The incidence is estimated as 1/50,000 (Cazzola et al. 1989).
Synonyms and Related Disorders
Buschke–Ollendorff syndrome; Melorheostosis; Osteopathia striata
Inherited in an autosomal dominant pattern
Caused by loss of function mutation of LEM domain-containing three gene (LEMD3)
Usually occurs in isolation
Osteopoikilosis in association with elastic or collagen connective tissue nevi of the skin, known as Buschke–Ollendorff syndrome (dermatofibrosis lenticularis disseminate)
In some families and individuals, osteopoikilosis can occur with other osteosclerotic skeletal disorders, such as melorheostosis and osteopathia striata.
KeywordsFamilial Mediterranean Fever Cleft Palate Cranial Nerve Palsy Reactive Arthritis Carpal Bone
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