Griscelli syndrome type 2

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Griscelli syndrome type 2
Other namesHypopigmentation-immunodeficiency with or without neurologic impairment syndrome
Autosomal recessive - en.svg
This condition is inherited in an autosomal recessive manner

Griscelli syndrome type 2 (also known as "partial albinism with immunodeficiency") is a rare autosomal recessive syndrome characterized by variable cutenous albinism, silver colored metallic looking hair, frequent bacterial or viral infections, neutropenia, and thrombocytopenia.[1]:866


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.


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.


Differential diagnosis

This includes Chediak-Higashi syndrome and Elejalde syndrome (neuroectodermal melanolysosomal disease).



This syndrome was first described in 1978.[2] In 2000 types 1 and 2 were distinguished.[3]

See also


  1. ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
  2. ^ 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
  3. ^ 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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