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Kindler syndrome: a rare case report from Syria
Kindler syndrome is a rare autosomal recessive inherited disease. The authors report a case with unique presentation that has never reported before in the medical Literatur” lanugo hair”. This is a case of a 13-year-old Syrian child, who presented with difuse fine face hair, and serious urinary comp...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Lippincott Williams & Wilkins
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10205305/ https://www.ncbi.nlm.nih.gov/pubmed/37229095 http://dx.doi.org/10.1097/MS9.0000000000000503 |
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author | Edrees, Souma Jarkas, Natalie Hraib, Munawar Al-Yousef, Khaled Baddour, Roula |
author_facet | Edrees, Souma Jarkas, Natalie Hraib, Munawar Al-Yousef, Khaled Baddour, Roula |
author_sort | Edrees, Souma |
collection | PubMed |
description | Kindler syndrome is a rare autosomal recessive inherited disease. The authors report a case with unique presentation that has never reported before in the medical Literatur” lanugo hair”. This is a case of a 13-year-old Syrian child, who presented with difuse fine face hair, and serious urinary complications. Kindler syndrome is characterized by acral skin blistering beginning at birth, diffuse cutaneous atrophy, photosensitivity, poikiloderma, and various mucosal findings. Highlighting a set of clinical diagnostic criteria; which is used only if a genetic test is not available |
format | Online Article Text |
id | pubmed-10205305 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Lippincott Williams & Wilkins |
record_format | MEDLINE/PubMed |
spelling | pubmed-102053052023-05-24 Kindler syndrome: a rare case report from Syria Edrees, Souma Jarkas, Natalie Hraib, Munawar Al-Yousef, Khaled Baddour, Roula Ann Med Surg (Lond) Case Reports Kindler syndrome is a rare autosomal recessive inherited disease. The authors report a case with unique presentation that has never reported before in the medical Literatur” lanugo hair”. This is a case of a 13-year-old Syrian child, who presented with difuse fine face hair, and serious urinary complications. Kindler syndrome is characterized by acral skin blistering beginning at birth, diffuse cutaneous atrophy, photosensitivity, poikiloderma, and various mucosal findings. Highlighting a set of clinical diagnostic criteria; which is used only if a genetic test is not available Lippincott Williams & Wilkins 2023-04-06 /pmc/articles/PMC10205305/ /pubmed/37229095 http://dx.doi.org/10.1097/MS9.0000000000000503 Text en Copyright © 2023 the Author(s). Published by Wolters Kluwer Health, Inc. https://creativecommons.org/licenses/by/4.0/This is an open access article distributed under the Creative Commons Attribution License 4.0 (https://creativecommons.org/licenses/by/4.0/) (CCBY), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) |
spellingShingle | Case Reports Edrees, Souma Jarkas, Natalie Hraib, Munawar Al-Yousef, Khaled Baddour, Roula Kindler syndrome: a rare case report from Syria |
title | Kindler syndrome: a rare case report from Syria |
title_full | Kindler syndrome: a rare case report from Syria |
title_fullStr | Kindler syndrome: a rare case report from Syria |
title_full_unstemmed | Kindler syndrome: a rare case report from Syria |
title_short | Kindler syndrome: a rare case report from Syria |
title_sort | kindler syndrome: a rare case report from syria |
topic | Case Reports |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10205305/ https://www.ncbi.nlm.nih.gov/pubmed/37229095 http://dx.doi.org/10.1097/MS9.0000000000000503 |
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