Uitto J, Santa Cruz D J, Starcher B C, Whyte M P, Murphy W A
J Invest Dermatol. 1981 Apr;76(4):284-7. doi: 10.1111/1523-1747.ep12526121.
The Buschke-Ollendorff 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-Ollendorf 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 secretions with pancreatic elastase completely removed these fibers. Electron microscopy of the dermis further revealed markedly branched elastic fibers without fragmentation. The accumulation of elastin in the skin was also demonstrated by measurements of desmosine employing a radioimmunoassay. The desmosine content of the skin lesions increased 3- to 7-fold when compared to the skin either from healthy controls or from uninvolved 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 from these patients may provide a convenient model to study the control mechanisms involved in elastin metabolism.
布希克-奥伦多夫综合征是一种皮肤病变（播散性豆状皮肤纤维瘤病）与骨斑点症相关联的疾病。这种病症以常染色体显性模式遗传。为了阐明皮肤病变的生化性质，我们检查了12例布希克-奥伦多夫综合征患者，代表2个无亲缘关系的家族。组织学上，病变的特征是真皮中存在大量异常宽阔、相互交织的弹性纤维。用胰弹性蛋白酶消化皮肤分泌物可完全去除这些纤维。真皮的电子显微镜检查进一步显示弹性纤维明显分支但无断裂。采用放射免疫测定法测量锁链素也证实了皮肤中弹性蛋白的积累。与健康对照者的皮肤或病变旁未受累皮肤相比，皮肤病变处的锁链素含量增加了3至7倍。结果表明，布希克-奥伦多夫综合征的皮肤病变是弹性蛋白型结缔组织痣。来自这些患者的细胞培养物可能为研究弹性蛋白代谢所涉及的控制机制提供一个便利的模型。
