Berk David R, Lind Anne C, Bayliss Susan J
Division of Dermatology, Departments of Internal Medicine and Pediatrics, Washington University School of Medicine and St Louis Children’s Hospital, St Louis, Missouri 63110, USA.
Pediatr Dermatol. 2010 Nov-Dec;27(6):662-4. doi: 10.1111/j.1525-1470.2010.01330.x.
Several types of vascular anomalies have been described in patients with Turner syndrome, including cutaneous lymphatic malformations, vascular anomalies of the heart and aorta, acral venous malformations, and intestinal vascular anomalies. Angiokeratomas have rarely been reported in patients with Turner syndrome. Here, we describe a 14-year-old girl with Turner syndrome who presented with a 2-year history of tender bluish-black keratotic acral papules. Biopsy showed acral skin with focal epidermal acanthosis that was centered on a dilated superficial vessel, consistent with an angiokeratoma. Lysosomal enzyme assays were normal, and she did not demonstrate any other features of a lysosomal storage disorder.
特纳综合征患者中已描述了几种类型的血管异常,包括皮肤淋巴管畸形、心脏和主动脉血管异常、肢端静脉畸形以及肠道血管异常。血管角化瘤在特纳综合征患者中很少有报道。在此,我们描述一名14岁患有特纳综合征的女孩,她有2年的肢端疼痛性蓝黑色角化丘疹病史。活检显示肢端皮肤有以扩张的浅表血管为中心的局灶性表皮棘层增厚,符合血管角化瘤表现。溶酶体酶检测正常,且她未表现出溶酶体贮积症的任何其他特征。