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Bilateral limbal stem cell deficiency with xeroderma pigmentosum in a young Asian child
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. ABSTR...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10387588/ https://www.ncbi.nlm.nih.gov/pubmed/37529126 http://dx.doi.org/10.1002/ccr3.7746 |
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author | Gurnani, Bharat Kaur, Kirandeep |
author_facet | Gurnani, Bharat Kaur, Kirandeep |
author_sort | Gurnani, Bharat |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-10387588 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | John Wiley and Sons Inc. |
record_format | MEDLINE/PubMed |
spelling | pubmed-103875882023-08-01 Bilateral limbal stem cell deficiency with xeroderma pigmentosum in a young Asian child Gurnani, Bharat Kaur, Kirandeep Clin Case Rep Case Images 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. John Wiley and Sons Inc. 2023-07-30 /pmc/articles/PMC10387588/ /pubmed/37529126 http://dx.doi.org/10.1002/ccr3.7746 Text en © 2023 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case Images Gurnani, Bharat Kaur, Kirandeep Bilateral limbal stem cell deficiency with xeroderma pigmentosum in a young Asian child |
title | Bilateral limbal stem cell deficiency with xeroderma pigmentosum in a young Asian child |
title_full | Bilateral limbal stem cell deficiency with xeroderma pigmentosum in a young Asian child |
title_fullStr | Bilateral limbal stem cell deficiency with xeroderma pigmentosum in a young Asian child |
title_full_unstemmed | Bilateral limbal stem cell deficiency with xeroderma pigmentosum in a young Asian child |
title_short | Bilateral limbal stem cell deficiency with xeroderma pigmentosum in a young Asian child |
title_sort | bilateral limbal stem cell deficiency with xeroderma pigmentosum in a young asian child |
topic | Case Images |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10387588/ https://www.ncbi.nlm.nih.gov/pubmed/37529126 http://dx.doi.org/10.1002/ccr3.7746 |
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