BUSCHKE-OLLENDORFF SYNDROME

Buschke-Ollendorff syndrome (BOS) is also known as dermatofibrosis lenticularis disseminata is a rare autosomal dominant disease characterized by cutaneous connective tissue nevi (collagenomas or elastomas) and osteopoikilosis (sclerotic densities at the ends of long bones).

• Inheritance is AD and affected patients may have only skin or only bone lesions.
  
• The radiographic finding of the bones is called osteopoikilosis, which is from the Greek words for "spotted bones".
• Mutations in the LEM domain-containing protein 3 gene (LEMD3) are causative.
• Onset is from birth to adulthood.
• Cultured fibroblasts of patients with BOS produce 2–8 times more tropoelastin than fibroblasts of healthy individuals and elastin production is higher in involved and uninvolved skin.
• While most lesions have mixed findings histologically, they can be categorized into four subtypes based on their composition: pure collagenoma, pure elastoma, mixed connective-tissue nevi, and cellular connective-tissue nevi.

Clinical

Multiple yellow to flesh-colored papules distributed symmetrically on the thighs, buttocks, and elsewhere is characteristic.

Treatment

There is no specific treatment for the skin lesions (unless large enough to be surgically removed). Genetic counseling is important. A normal lifespan is expected.

RegionalDerm

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