Abstract
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.
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