Dawson Annelise L, Schulman Joshua M, Jordan Richard C, North Jeffrey P
Department of Dermatology, University of California, San Francisco, CA, USA.
J Cutan Pathol. 2014 Sep;41(9):740-4. doi: 10.1111/cup.12365. Epub 2014 Jul 4.
Buschke-Ollendorff syndrome represents an autosomal dominant disorder characterized by connective tissue nevi and osteopoikilosis. Cutaneous lesions may contain either predominantly elastic fibers or predominantly collagen fibers or may show both connective tissue components. The disease results from mutations in LEMD3 (MAN1), which lead to enhanced transforming growth factor-β (TGF-β) signaling and resultant changes in fibroblast function. TGF-β alterations have been implicated in a number of fibrotic disorders, and it is therefore not surprising that a range of cutaneous and skeletal abnormalities have been associated with Buschke-Ollendorff syndrome. Herein, we report a novel association between ossifying fibroma and Buschke-Ollendorff syndrome and discuss how these conditions are likely to be mechanistically linked.
布希克-奥伦多夫综合征是一种常染色体显性疾病，其特征为结缔组织痣和骨斑点症。皮肤病变可能主要包含弹性纤维或主要包含胶原纤维，或者可能同时显示两种结缔组织成分。该疾病是由LEMD3（MAN1）基因突变引起的，这些突变导致转化生长因子-β（TGF-β）信号增强，进而导致成纤维细胞功能发生变化。TGF-β改变与多种纤维化疾病有关，因此一系列皮肤和骨骼异常与布希克-奥伦多夫综合征相关也就不足为奇了。在此，我们报告骨化性纤维瘤与布希克-奥伦多夫综合征之间的一种新关联，并讨论这些病症可能如何在机制上相互联系。
