Griscelli syndrome type-3

Griscelli syndrome (GS) is a rare autosomal recessive multisystem disorder of pigmentary dilution of skin, silver gray hair, variable immunodeficiency, neurological impairment, and abnormal accumulation of melanosomes in melanocytes. GS type 3 is characterized by hypomelanosis with no immunological and neurological manifestation. Prognosis is very good in type 3 GS and usually require no active intervention, as opposed to type 1 and 2 where early diagnosis and treatment plays a crucial role in patient's survival. The characteristic phenotypic appearance, especially the pigment dilution of the patient's hair, is emphasized here.

• Publication year

  2016

• Venue

  Indian Dermatology Online Journal

• Publication date

  2016-11-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.4103/2229-5178.193910PMID 27990386PMCID 5134165
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

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  2003cited by this paper
• Slac2-a/Melanophilin, the Missing Link between Rab27 and Myosin Va

  2002cited by this paper
• Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome

  2000cited by this paper
• Chediak-Higashi syndrome.

  1994cited by this paper
• A kindred with Griscelli disease: Spectrum of neurological involvement

  1993cited by this paper
• Bone marrow transplantation (BMT) for the syndrome of pigmentary dilution and lymphohistiocytosis (Griscelli's syndrome)

  1990cited by this paper
• A syndrome associating partial albinism and immunodeficiency.

  1978cited by this paper
• Chediak-Higashi syndrome.

  1969cited by this paper

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• Griscelli Syndrome Type 3 with Coexistent Universal Dyschromia—An Uncommon Association of a Rare Entity

  2020influential citation
• Congenital Hypopigmentary Disorders with Multiorgan Impairment: A Case Report and an Overview on Gray Hair Syndromes

  2019cites this paper
• Silvery hair with dyschromatosis: Griscelli syndrome type 3 or familial gigantic melanocytosis

  2018influential citation
• [Griscelli syndrome type 3: A new case].

  2018cites this paper