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Nodules de lisch dans la neurofibromatose type 1
Neurofibromatosis type 1 (NF1) or Von Recklinghausen disease manifests as cutaneous café-au-lait spots and neurofibromas. It is one of the most common autosomal dominant genetic diseases. It is extremely variable in its individual manifestation. Cutaneous and neurologic symptoms are the most common...
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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The African Field Epidemiology Network
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5622834/ https://www.ncbi.nlm.nih.gov/pubmed/28979620 http://dx.doi.org/10.11604/pamj.2017.27.218.11517 |
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author | Abaloun, Yassine Ajhoun, Yousra |
author_facet | Abaloun, Yassine Ajhoun, Yousra |
author_sort | Abaloun, Yassine |
collection | PubMed |
description | Neurofibromatosis type 1 (NF1) or Von Recklinghausen disease manifests as cutaneous café-au-lait spots and neurofibromas. It is one of the most common autosomal dominant genetic diseases. It is extremely variable in its individual manifestation. Cutaneous and neurologic symptoms are the most common manifestations but it can also affect other organs including eyes, bones and other areas. Lisch nodules are the most common ocular manifestations in NF-1. They are asymptomatic small pigmented iris tumors (iris hamartomas) which can help suggest the diagnosis of NF1 as they are characteristic of this disease and mostly occur in adult patients. We report the case of a 45-year old female patient followed for a neurofibromatosis type 1 retained on the presence of multiple cutaneous café-au-lait spots and neurofibromas. Ophthalmologic examination showed visual acuity of 10/10 P3 in both eyes. Biomicroscopic examination showed Lisch nodules of the iris in both eyes (A,B). |
format | Online Article Text |
id | pubmed-5622834 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | The African Field Epidemiology Network |
record_format | MEDLINE/PubMed |
spelling | pubmed-56228342017-10-04 Nodules de lisch dans la neurofibromatose type 1 Abaloun, Yassine Ajhoun, Yousra Pan Afr Med J Images in Medicine Neurofibromatosis type 1 (NF1) or Von Recklinghausen disease manifests as cutaneous café-au-lait spots and neurofibromas. It is one of the most common autosomal dominant genetic diseases. It is extremely variable in its individual manifestation. Cutaneous and neurologic symptoms are the most common manifestations but it can also affect other organs including eyes, bones and other areas. Lisch nodules are the most common ocular manifestations in NF-1. They are asymptomatic small pigmented iris tumors (iris hamartomas) which can help suggest the diagnosis of NF1 as they are characteristic of this disease and mostly occur in adult patients. We report the case of a 45-year old female patient followed for a neurofibromatosis type 1 retained on the presence of multiple cutaneous café-au-lait spots and neurofibromas. Ophthalmologic examination showed visual acuity of 10/10 P3 in both eyes. Biomicroscopic examination showed Lisch nodules of the iris in both eyes (A,B). The African Field Epidemiology Network 2017-07-21 /pmc/articles/PMC5622834/ /pubmed/28979620 http://dx.doi.org/10.11604/pamj.2017.27.218.11517 Text en © Yassine Abaloun et al. http://creativecommons.org/licenses/by/2.0/ The Pan African Medical Journal - ISSN 1937-8688. This is an Open Access article distributed under the terms of the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Images in Medicine Abaloun, Yassine Ajhoun, Yousra Nodules de lisch dans la neurofibromatose type 1 |
title | Nodules de lisch dans la neurofibromatose type 1 |
title_full | Nodules de lisch dans la neurofibromatose type 1 |
title_fullStr | Nodules de lisch dans la neurofibromatose type 1 |
title_full_unstemmed | Nodules de lisch dans la neurofibromatose type 1 |
title_short | Nodules de lisch dans la neurofibromatose type 1 |
title_sort | nodules de lisch dans la neurofibromatose type 1 |
topic | Images in Medicine |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5622834/ https://www.ncbi.nlm.nih.gov/pubmed/28979620 http://dx.doi.org/10.11604/pamj.2017.27.218.11517 |
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