Photosensitivity, corneal scarring and developmental delay: Xeroderma Pigmentosum in a tropical country

We present the case of an 8 year-old girl in a developing country with significant corneal scarring and multiple cutaneous skin lesions in sun-exposed areas. Neuro-developmental delay had been present since 3 months of age, and taken as a whole the consensus was that this clinical picture was consis...

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Autores principales: Halpern, James, Hopping, Bryan, Brostoff, Joshua M
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2008
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2577106/
https://www.ncbi.nlm.nih.gov/pubmed/18937855
http://dx.doi.org/10.1186/1757-1626-1-254
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author Halpern, James
Hopping, Bryan
Brostoff, Joshua M
author_facet Halpern, James
Hopping, Bryan
Brostoff, Joshua M
author_sort Halpern, James
collection PubMed
description We present the case of an 8 year-old girl in a developing country with significant corneal scarring and multiple cutaneous skin lesions in sun-exposed areas. Neuro-developmental delay had been present since 3 months of age, and taken as a whole the consensus was that this clinical picture was consistent with Xeroderma Pigmentosum (XP). We highlight the difficulties encountered due to the lack of diagnostic and treatment modalities for this child, and offer a brief review of XP, including emerging treatments that show potential.
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spelling pubmed-25771062008-11-01 Photosensitivity, corneal scarring and developmental delay: Xeroderma Pigmentosum in a tropical country Halpern, James Hopping, Bryan Brostoff, Joshua M Cases J Case Report We present the case of an 8 year-old girl in a developing country with significant corneal scarring and multiple cutaneous skin lesions in sun-exposed areas. Neuro-developmental delay had been present since 3 months of age, and taken as a whole the consensus was that this clinical picture was consistent with Xeroderma Pigmentosum (XP). We highlight the difficulties encountered due to the lack of diagnostic and treatment modalities for this child, and offer a brief review of XP, including emerging treatments that show potential. BioMed Central 2008-10-20 /pmc/articles/PMC2577106/ /pubmed/18937855 http://dx.doi.org/10.1186/1757-1626-1-254 Text en Copyright © 2008 Halpern et al; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( (http://creativecommons.org/licenses/by/2.0) ), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Halpern, James
Hopping, Bryan
Brostoff, Joshua M
Photosensitivity, corneal scarring and developmental delay: Xeroderma Pigmentosum in a tropical country
title Photosensitivity, corneal scarring and developmental delay: Xeroderma Pigmentosum in a tropical country
title_full Photosensitivity, corneal scarring and developmental delay: Xeroderma Pigmentosum in a tropical country
title_fullStr Photosensitivity, corneal scarring and developmental delay: Xeroderma Pigmentosum in a tropical country
title_full_unstemmed Photosensitivity, corneal scarring and developmental delay: Xeroderma Pigmentosum in a tropical country
title_short Photosensitivity, corneal scarring and developmental delay: Xeroderma Pigmentosum in a tropical country
title_sort photosensitivity, corneal scarring and developmental delay: xeroderma pigmentosum in a tropical country
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2577106/
https://www.ncbi.nlm.nih.gov/pubmed/18937855
http://dx.doi.org/10.1186/1757-1626-1-254
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AT hoppingbryan photosensitivitycornealscarringanddevelopmentaldelayxerodermapigmentosuminatropicalcountry
AT brostoffjoshuam photosensitivitycornealscarringanddevelopmentaldelayxerodermapigmentosuminatropicalcountry

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