BIOCHEMICAL AND ULTRASTRUCTURAL DEMONSTRATION OF ELASTIN ACCUMULATION IN THE SKIN-LESIONS OF THE BUSCHKE-OLLENDORFF SYNDROME

[摘要] The Buschke-Ollendorff syndrome is an association of cutaneous lesions, dermatofibrosis lenticularis disseminata, with osteopoikilosis. This condition is inherited in an autosomal dominant pattern. To clarify the biochemical nature of the skin lesions, 12 patients with the Buschke-Ollendorff syndrome, representing 2 unrelated kindreds, were examined. Histologically, the lesions were characterized by excessive amounts of unusually broad, interlacing elastic fibers in the dermis. Digestion of skin sections with pancreatic elastase removed these fibers. EM of the dermis revealed branched elastic fibers without fragmentation. Accumulation of elastin in the skin was also demonstrated by measurements of desmosine employing a radioimmunoassay. Desmosine content of the skin lesions increased 3- to 7-fold when compared to the skin from healthy controls or from uninvolved skin adjacent to a lesion. Results indicated that the skin lesions of the Buschke-Ollendorff syndrome were connective tissue nevi of the elastin type. Cell cultures from these patients may provide a convenient model to study the control mechanisms involved in elastin metabolism.