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 – increased bone density; small round areas visible on X‑ray (characteristic “spotted” appearance) at the ends of the long bones of the arms and thighs, in the pelvis, hands, and feet; these findings do not cause health problems or pain
• cutaneous nevi (skin moles)
• areas of increased subcutaneous connective tissue on the skin of the trunk and limbs – these appear as protruding, firm nodules and patches with a yellowish color