Biochemical and Ultrastructural Demonstration of Elastin Accumulation in the Skin Lesions of the Buschke-Ollendorff Syndrome

The Buschke-Ollendoff syndrome is an association of cutaneous lesions, dermatofibrosis lenticularis disseminata, with osteopoikilosis. This condition is inherited in an autosomal dominant pattern. In order to clarify the biochemical nature of the skin lesions, we have examined 12 patients with the Buschke-Ollendorff syndrome, representing 2 unrelated kindreds. Histologically, the lesions were characterized by excessive amounts of unusually broad, interlacing elastic fibers in the dermis. Digestion of skin sections with pancreatic elastase fibers without fragmention. The accumulation of elastin in the skin was also demonstrated by measurements of desmosine employing a radioimmunoassay. The desmosine content of the skin lesions as increased 3- to 7-fold when compared to the skin either from healthy controls or from univolved skin adjacent to a lesion. The results indicate that the skin lesions of the Buschke-Ollendorff syndrome are connective tissue nevi of the elastin type. Cell cultures form these patients may provide a convenient model to study the control mechanisms involved in elastin metabolism