Blaszczyk M, Depaepe A, Nuytinck L, Glinska-Ferenz M, Jablonska S
Department of Dermatology, Warsaw School of Medicine, Warsaw, Poland.
Eur J Dermatol. 2000 Jan-Feb;10(1):36-40.
We report a familial case of acrogeria in a mother and son, with characteristic cutaneous involvement and no clinical signs of vascular Ehlers-Danlos syndrome (former EDS type IV) in spite of some tendency to bruising. The biochemical and molecular studies did not disclose any abnormality of collagen type III, which favours the diagnosis of acrogeria. It appears that recognition of acrogeria as an entity is of clinical significance since these cases are not associated with systemic involvement, and specifically with rupture of vessels and internal organs, occasionnally occurring in EDS.
我们报告了一例母亲和儿子患早老症的家族病例，他们有典型的皮肤受累表现，尽管有一些容易出现瘀伤的倾向，但没有血管性埃勒斯-当洛综合征（以前的IV型埃勒斯-当洛综合征）的临床体征。生化和分子研究未发现III型胶原蛋白有任何异常，这支持早老症的诊断。早老症作为一个独立的疾病被识别似乎具有临床意义，因为这些病例不伴有全身受累，特别是不会出现埃勒斯-当洛综合征中偶尔发生的血管和内脏破裂。
