Griscelli syndrome type 2
(Redirected from Partial albinism with immunodeficiency)
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.[1]: 866
Presentation[edit | edit source]
All types of Griscelli syndrome have distinctive skin and hair coloring.
Type 1 is associated with neurological abnormalities. These include delayed development, intellectual disability, seizures, hypotonia and eye abnormalities.
Type 2 - unlike type 1 - is not associated with 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.
Genetics[edit | edit source]
There are three types of Griscelli syndrome.
Type 1 is associated with mutations in the MYO5A gene
Type 2 is associated with mutations in RAB27A gene.
Both these genes are located on the long arm of chromosome 15 (15q21).
Type 3 is associated with mutations in the MLPH gene.
All types are inherited in an autosomal recessive fashion.
Diagnosis[edit | edit source]
Differential diagnosis[edit | edit source]
This includes Chediak-Higashi syndrome and Elejalde syndrome (neuroectodermal melanolysosomal disease).
Treatment[edit | edit source]
Bone marrow transplantation is the most effective treatment and the only possible cure for Griscelli syndrome type 2 (GS2). Immunosuppressive therapies may be used in preparation for transplantation, and to suppress damage to multiple organs caused by hemophagocytic lymphohistiocystosis. Recurrent infections may be minimized with antibacterial and antiviral medications. In addition, avoiding interactions that increase the risk of infection is important.
History[edit | edit source]
This syndrome was first described in 1978.[2] In 2000 types 1 and 2 were distinguished.[3]
See also[edit | edit source]
References[edit | edit source]
- ↑ 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
External links[edit | edit source]
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