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Osteopoikilosis

Reference work entry

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

Genetics/Basic Defects

  1. 1.

    Inherited in an autosomal dominant pattern

     
  2. 2.

    Caused by loss of function mutation of LEM domain-containing three gene (LEMD3)

     
  3. 3.

    Usually occurs in isolation

     
  4. 4.

    Osteopoikilosis in association with elastic or collagen connective tissue nevi of the skin, known as Buschke–Ollendorff syndrome (dermatofibrosis lenticularis disseminate)

     
  5. 5.

    In some families and individuals, osteopoikilosis can occur with other osteosclerotic skeletal disorders, such as melorheostosis and osteopathia striata.

     

Clinical Features

Keywords

Familial Mediterranean Fever Cleft Palate Cranial Nerve Palsy Reactive Arthritis Carpal Bone 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

References

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© Springer Science+Business Media, LLC 2012

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