Dermochondrocorneal Dystrophy (Francois' Syndrome)

作者：Baumgartner Nielsen Jane^*; Hjortdal Jesper; Fogh Karsten

来源：Acta Dermato-Venereologica, 2010, 90(4): 412-413.

DOI：10.2340/00015555-0834

Dermochondrocorneal dystrophy (of Francois) is a rare inherited disease. The mode of inheritance is uncertain and both autosomal recessive and dominant traits have been suggested (1). The disease is characterized by corneal dystrophy, and xanthomatous nodules of the hands, elbows and nose, together with deformity of the hands and feet. In addition, ocular changes are present, leading to reduced vision. The disease was initially described in 1949 by Francois (2). The histopathology of the disease is described as a proliferation of fibroblasts, and analysis of metabolites from urinary collagen has suggested increased production of type III collagen (3, 4). Only a few cases have been reported in the literature (5-7). We report here the case of a man presenting with classical skin changes.

• 出版日期2010