Griscelli syndrome type 2
|Griscelli syndrome type 2|
|Synonyms||Hypopigmentation-immunodeficiency with or without neurologic impairment syndrome|
|This condition is inherited in an autosomal recessive manner|
|Classification and external resources|
Griscelli syndrome type 2 (also known as "Partial albinism with immunodeficiency") is a rare autosomal recessive syndrome characterized by variable pigmentary dilution, hair with silvery metallic sheen, frequent pyogenic infections, neutropenia, and thrombocytopenia.:866
All types of Griscelli syndrome have distinctive skin and hair coloring.
Type 1 is associated with eurological abnormalities. These include delayed development, intellectual disability, seizures, hypotonia and eye abnormalities.
Type 2 - unlike type 1 - is not associated primary neurological disease but is associated with an uncontrolled T lymphocyte expansion and macrophage activation syndrome. It is often associated with the hemophagocytic syndrome. This latter condition may be fatal in the absence of bone marrow transplantation.
Persons with type 3 have the typical light skin and hair coloring but are otherwise normal.
There are three types of Griscelli syndrome.
Type 2 is associated with mutations in RAB27A gene.
Both these genes are located on the long arm of chromosome 15 (15q21).
All types are inherited in an autosomal recessive fashion.
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- James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
- Griscelli C, Durandy, A, Guy-Grand D, Daguillard F, Herzog C, Prunieras M (1978) A syndrome associating partial albinism and immunodeficiency. Am J Med 65:691-702
- Menasche G, Pastural E, Feldmann J, Certain S, Ersoy F, Dupuis S, Wulffraat N, Bianchi D, Fischer A, Le Deist F, de Saint Basile G (2000) Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome. Nature Genet 25:173-176
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