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...

Full description

Bibliographic Details
Main Authors: Sinu Rose Mathachan, Surabhi Sinha, Purnima Malhotra
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2020-01-01
Series:Indian Dermatology Online Journal
Subjects:
Online Access:http://www.idoj.in/article.asp?issn=2229-5178;year=2020;volume=11;issue=5;spage=799;epage=803;aulast=Mathachan
id doaj-2102b78139dc47d089712cb4f7541d74
record_format Article
spelling doaj-2102b78139dc47d089712cb4f7541d742020-11-25T03:43:16ZengWolters Kluwer Medknow PublicationsIndian Dermatology Online Journal2229-51782020-01-0111579980310.4103/idoj.IDOJ_572_19Griscelli syndrome type 3 with coexistent universal dyschromia—An uncommon association of a rare entitySinu Rose MathachanSurabhi SinhaPurnima MalhotraGriscelli 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.http://www.idoj.in/article.asp?issn=2229-5178;year=2020;volume=11;issue=5;spage=799;epage=803;aulast=Mathachangrey hairgriscelli syndromeuniversal dyschromia
collection DOAJ
language English
format Article
sources DOAJ
author Sinu Rose Mathachan
Surabhi Sinha
Purnima Malhotra
spellingShingle Sinu Rose Mathachan
Surabhi Sinha
Purnima Malhotra
Griscelli syndrome type 3 with coexistent universal dyschromia—An uncommon association of a rare entity
Indian Dermatology Online Journal
grey hair
griscelli syndrome
universal dyschromia
author_facet Sinu Rose Mathachan
Surabhi Sinha
Purnima Malhotra
author_sort Sinu Rose Mathachan
title 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_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_sort griscelli syndrome type 3 with coexistent universal dyschromia—an uncommon association of a rare entity
publisher Wolters Kluwer Medknow Publications
series Indian Dermatology Online Journal
issn 2229-5178
publishDate 2020-01-01
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.
topic grey hair
griscelli syndrome
universal dyschromia
url http://www.idoj.in/article.asp?issn=2229-5178;year=2020;volume=11;issue=5;spage=799;epage=803;aulast=Mathachan
work_keys_str_mv AT sinurosemathachan griscellisyndrometype3withcoexistentuniversaldyschromiaanuncommonassociationofarareentity
AT surabhisinha griscellisyndrometype3withcoexistentuniversaldyschromiaanuncommonassociationofarareentity
AT purnimamalhotra griscellisyndrometype3withcoexistentuniversaldyschromiaanuncommonassociationofarareentity
_version_ 1724520979324993536