Bilateral limbal stem cell deficiency with xeroderma pigmentosum in a young Asian child

一名年轻的亚洲儿童患有双侧角膜缘干细胞缺乏症和着色性干皮病。

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Abstract

KEY CLINICAL MESSAGE: Xeroderma pigmentosum is an autosomal recessive disorder with various ocular manifestations of which bilateral limbal stem cell deficiency is a rare manifestation. Timely diagnosis and meticulous management are vital in these cases to prevent irreversible ocular sequelae. ABSTRACT: Bilateral limbal stem cell deficiency (LSCD) can be a rare manifestation in patients afflicted with xeroderma pigmentosum (XP). The authors report a rare case of a 12-year-old boy who presented with redness and defective vision and was diagnosed with bilateral LSCD and hyperpigmented lesion over the face and trunk suggestive of XP.

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