Griscelli syndrome Type 2: A report of rare case
Griscelli syndrome (GS) is a rare autosomal recessive disorder characterized by pigmentary dilution of the hair and skin. Three different types (1–3) caused by mutation in three different genes have been described. GS2 is characterized by partial albinism, immunodeficiency, organomegaly, and hemopha...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2017-01-01
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| Series: | Clinical Dermatology Review |
| Subjects: | |
| Online Access: | http://www.cdriadvlkn.org/article.asp?issn=2542-551X;year=2017;volume=1;issue=2;spage=65;epage=68;aulast=Kudligi |
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| author | Chandramohan Kudligi Pradeep Vittal Bhagwat Mary Zothanpuii Chhangte Vidya Kuntoji Sujata Giriyan Veena Andanappanavar |
| author_facet | Chandramohan Kudligi Pradeep Vittal Bhagwat Mary Zothanpuii Chhangte Vidya Kuntoji Sujata Giriyan Veena Andanappanavar |
| author_sort | Chandramohan Kudligi |
| collection | DOAJ |
| description | Griscelli syndrome (GS) is a rare autosomal recessive disorder characterized by pigmentary dilution of the hair and skin. Three different types (1–3) caused by mutation in three different genes have been described. GS2 is characterized by partial albinism, immunodeficiency, organomegaly, and hemophagocytic lymphohistiocytosis (HLH). Long-term prognosis of GS2 is poor, and in most cases, it leads to death within the first decade of life. GS2 is most common among three types with 11 cases reported from the Indian literature. We report a case of GS2 which was diagnosed well before the development of life-threatening HLH. |
| first_indexed | 2024-12-17T01:39:06Z |
| format | Article |
| id | doaj.art-f2a21c3d8b4041459e7f31dc7b81b5d1 |
| institution | Directory Open Access Journal |
| issn | 2542-551X 2542-5528 |
| language | English |
| last_indexed | 2024-12-17T01:39:06Z |
| publishDate | 2017-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Clinical Dermatology Review |
| spelling | doaj.art-f2a21c3d8b4041459e7f31dc7b81b5d12022-12-21T22:08:22ZengWolters Kluwer Medknow PublicationsClinical Dermatology Review2542-551X2542-55282017-01-0112656810.4103/CDR.CDR_1_16Griscelli syndrome Type 2: A report of rare caseChandramohan KudligiPradeep Vittal BhagwatMary Zothanpuii ChhangteVidya KuntojiSujata GiriyanVeena AndanappanavarGriscelli syndrome (GS) is a rare autosomal recessive disorder characterized by pigmentary dilution of the hair and skin. Three different types (1–3) caused by mutation in three different genes have been described. GS2 is characterized by partial albinism, immunodeficiency, organomegaly, and hemophagocytic lymphohistiocytosis (HLH). Long-term prognosis of GS2 is poor, and in most cases, it leads to death within the first decade of life. GS2 is most common among three types with 11 cases reported from the Indian literature. We report a case of GS2 which was diagnosed well before the development of life-threatening HLH.http://www.cdriadvlkn.org/article.asp?issn=2542-551X;year=2017;volume=1;issue=2;spage=65;epage=68;aulast=Kudligigriscelli syndromemelanin clumpsnystagmussilvery hair |
| spellingShingle | Chandramohan Kudligi Pradeep Vittal Bhagwat Mary Zothanpuii Chhangte Vidya Kuntoji Sujata Giriyan Veena Andanappanavar Griscelli syndrome Type 2: A report of rare case Clinical Dermatology Review griscelli syndrome melanin clumps nystagmus silvery hair |
| title | Griscelli syndrome Type 2: A report of rare case |
| title_full | Griscelli syndrome Type 2: A report of rare case |
| title_fullStr | Griscelli syndrome Type 2: A report of rare case |
| title_full_unstemmed | Griscelli syndrome Type 2: A report of rare case |
| title_short | Griscelli syndrome Type 2: A report of rare case |
| title_sort | griscelli syndrome type 2 a report of rare case |
| topic | griscelli syndrome melanin clumps nystagmus silvery hair |
| url | http://www.cdriadvlkn.org/article.asp?issn=2542-551X;year=2017;volume=1;issue=2;spage=65;epage=68;aulast=Kudligi |
| work_keys_str_mv | AT chandramohankudligi griscellisyndrometype2areportofrarecase AT pradeepvittalbhagwat griscellisyndrometype2areportofrarecase AT maryzothanpuiichhangte griscellisyndrometype2areportofrarecase AT vidyakuntoji griscellisyndrometype2areportofrarecase AT sujatagiriyan griscellisyndrometype2areportofrarecase AT veenaandanappanavar griscellisyndrometype2areportofrarecase |