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...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2020-01-01
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| 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 |
| _version_ | 1818553344402128896 |
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| author | Sinu Rose Mathachan Surabhi Sinha Purnima Malhotra |
| author_facet | Sinu Rose Mathachan Surabhi Sinha Purnima Malhotra |
| author_sort | Sinu Rose Mathachan |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-12-12T09:24:38Z |
| format | Article |
| id | doaj.art-2102b78139dc47d089712cb4f7541d74 |
| institution | Directory Open Access Journal |
| issn | 2229-5178 |
| language | English |
| last_indexed | 2024-12-12T09:24:38Z |
| publishDate | 2020-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Indian Dermatology Online Journal |
| spelling | doaj.art-2102b78139dc47d089712cb4f7541d742022-12-22T00:29:04ZengWolters 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 |
| 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 |
| 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 | 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 |
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