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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...

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Detalles Bibliográficos
Autores principales: Gurnani, Bharat, Kaur, Kirandeep
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
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.
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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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