Clinical Case Reports (Aug 2023)

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

  • Bharat Gurnani,
  • Kirandeep Kaur

DOI
https://doi.org/10.1002/ccr3.7746
Journal volume & issue
Vol. 11, no. 8
pp. n/a – n/a

Abstract

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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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