Buschke-Ollendorff syndrome

Buschke–Ollendorff syndrome (osteopoikilosis) is an extremely rare genetically determined disorder affecting connective tissue, primarily the bones and skin. The incidence of the disease is approximately 1:20,000.

Causes

The cause is a genetic mutation. It may arise de novo or be inherited from an affected parent. An individual affected by this condition has a 50% chance of passing the disorder on to their child. The mode of inheritance is autosomal dominant.

Diagnosis

Diagnosis is established by identifying a mutation in the LEMD3 gene.

Treatment

There is no prevention or causal treatment for the syndrome. However, the prognosis is favorable, and the condition usually does not significantly limit or endanger the affected individual.

• osteopoikilosis – zvýšená kostná denzita (hustota kostí), malé okrúhle oblasti viditeľné na RTG (ako charakteristické bodkovanie) na koncoch dlhých kostí ramena a stehna, na panve, rukách a chodidlách - nespôsobujú zdravotné problémy ani bolesť
• kožné névy (znamienka na koži)
• na koži trupu a končatín vyskytujú miesta, kde je zmnožené podkožné väzivo - tieto miesta majú vzhľad vystupujúcich tuhých pupienkov a škvŕn, ktoré majú žltkastú farbu