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Griscelli Syndrome Type 3 with Coexistent Universal Dyschromia—An Uncommon Association of a Rare Entity
Griscelli syndrome type 3 is an autosomal recessive disorder caused by mutations in the melanophilin gene and does not have any mucocutaneous or systemic abnormalities other than a pigmentary dilution of skin and hair. We report a case of an 8-year-old girl who presented with silvery grey hair of sc...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Wolters Kluwer - Medknow
2020
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7678511/ https://www.ncbi.nlm.nih.gov/pubmed/33235850 http://dx.doi.org/10.4103/idoj.IDOJ_572_19 |
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author | Mathachan, Sinu Rose Sinha, Surabhi Malhotra, Purnima |
author_facet | Mathachan, Sinu Rose Sinha, Surabhi Malhotra, Purnima |
author_sort | Mathachan, Sinu Rose |
collection | PubMed |
description | Griscelli syndrome type 3 is an autosomal recessive disorder caused by mutations in the melanophilin gene and does not have any mucocutaneous or systemic abnormalities other than a pigmentary dilution of skin and hair. We report a case of an 8-year-old girl who presented with silvery grey hair of scalp, eyebrows, eyelashes, and entire body surface with associated universal dyschromia of the skin. After establishing a definite diagnosis of Griscelli syndrome 3, the prognosis was explained and counseling was given. A review of the literature revealed only 27 cases of Griscelli syndrome type 3 in the English language of which only one case by Batrani et al. has reported an associated dyschromia. We report this case to add to the existing literature on this rare condition and to highlight the coexistence of universal dyschromia with Griscelli syndrome type 3. |
format | Online Article Text |
id | pubmed-7678511 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Wolters Kluwer - Medknow |
record_format | MEDLINE/PubMed |
spelling | pubmed-76785112020-11-23 Griscelli Syndrome Type 3 with Coexistent Universal Dyschromia—An Uncommon Association of a Rare Entity Mathachan, Sinu Rose Sinha, Surabhi Malhotra, Purnima Indian Dermatol Online J Case Report Griscelli syndrome type 3 is an autosomal recessive disorder caused by mutations in the melanophilin gene and does not have any mucocutaneous or systemic abnormalities other than a pigmentary dilution of skin and hair. We report a case of an 8-year-old girl who presented with silvery grey hair of scalp, eyebrows, eyelashes, and entire body surface with associated universal dyschromia of the skin. After establishing a definite diagnosis of Griscelli syndrome 3, the prognosis was explained and counseling was given. A review of the literature revealed only 27 cases of Griscelli syndrome type 3 in the English language of which only one case by Batrani et al. has reported an associated dyschromia. We report this case to add to the existing literature on this rare condition and to highlight the coexistence of universal dyschromia with Griscelli syndrome type 3. Wolters Kluwer - Medknow 2020-09-19 /pmc/articles/PMC7678511/ /pubmed/33235850 http://dx.doi.org/10.4103/idoj.IDOJ_572_19 Text en Copyright: © 2020 Indian Dermatology Online Journal http://creativecommons.org/licenses/by-nc-sa/4.0 This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms. |
spellingShingle | Case Report Mathachan, Sinu Rose Sinha, Surabhi Malhotra, Purnima Griscelli Syndrome Type 3 with Coexistent Universal Dyschromia—An Uncommon Association of a Rare Entity |
title | Griscelli Syndrome Type 3 with Coexistent Universal Dyschromia—An Uncommon Association of a Rare Entity |
title_full | Griscelli Syndrome Type 3 with Coexistent Universal Dyschromia—An Uncommon Association of a Rare Entity |
title_fullStr | Griscelli Syndrome Type 3 with Coexistent Universal Dyschromia—An Uncommon Association of a Rare Entity |
title_full_unstemmed | Griscelli Syndrome Type 3 with Coexistent Universal Dyschromia—An Uncommon Association of a Rare Entity |
title_short | Griscelli Syndrome Type 3 with Coexistent Universal Dyschromia—An Uncommon Association of a Rare Entity |
title_sort | griscelli syndrome type 3 with coexistent universal dyschromia—an uncommon association of a rare entity |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7678511/ https://www.ncbi.nlm.nih.gov/pubmed/33235850 http://dx.doi.org/10.4103/idoj.IDOJ_572_19 |
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