Karen Julie K, Hale Elizabeth K, Ma Linglei
Department of Dermatology, New York University School of Medicine, USA.
Dermatol Online J. 2005 Dec 30;11(4):8.
A 23-year-old man presented for cosmetic consultation for symmetrically distributed, red-to-purple, hyperkeratotic papules that had been present since early childhood. Histopathologic features included ectasia of upper dermal vessels with overlying hyperkeratosis. Serum alpha-galactosidase A level was diminished. Fabry disease is an x-linked recessive disorder in which deficiency of the lysosomal enzyme alpha-galactosidase A leads to progressive accumulation of globotriaosylceramide in vital organs. The complexity and rarity of this disease mandates a multidisciplinary approach that includes initiation of enzyme replacement therapy.
一名23岁男性因自幼出现的对称分布的、从红色到紫色的角化过度丘疹前来进行美容咨询。组织病理学特征包括真皮上部血管扩张伴上方角化过度。血清α-半乳糖苷酶A水平降低。法布里病是一种X连锁隐性疾病,其中溶酶体酶α-半乳糖苷酶A的缺乏导致球三糖基神经酰胺在重要器官中进行性蓄积。这种疾病的复杂性和罕见性要求采用多学科方法,包括启动酶替代疗法。