Madan V, Gupta U
Department of Dermatology, Hope Hospital, Salford, Manchester, UK.
Clin Exp Dermatol. 2006 Jan;31(1):54-6. doi: 10.1111/j.1365-2230.2005.01946.x.
Tyrosinaemia type II (oculocutaneous tyrosinaemia or Richner-Hanhart syndrome) is a rare and potentially treatable genetic disorder. Corneal opacities or ulcers, circumscribed palmoplantar keratoderma and subnormal intelligence form the classical triad of this syndrome. A case with additional features of self-harm and diffuse plantar keratoderma is discussed. Emphasis is laid on the importance of early diagnosis and intervention in the form of dietary regulation to prevent the neurological signs and treat the oculocutaneous symptoms.
II型酪氨酸血症（眼皮肤型酪氨酸血症或里什纳-汉哈特综合征）是一种罕见且有可能治愈的遗传性疾病。角膜混浊或溃疡、局限性掌跖角化病和智力发育迟缓构成了该综合征的典型三联征。本文讨论了一例伴有自残和弥漫性跖部角化病等额外特征的病例。强调了早期诊断和以饮食调节形式进行干预对于预防神经症状和治疗眼皮肤症状的重要性。
