| Griscelli syndrome type 2 | |
|---|---|
| Other names | Hypopigmentation-immunodeficiency with or without neurologic impairment syndrome |
 | |
| 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
Presentation
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
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
Differential diagnosis
This includes Chediak-Higashi syndrome and Elejalde syndrome (neuroectodermal melanolysosomal disease).
Treatment
History
This syndrome was first described in 1978.[2] In 2000 types 1 and 2 were distinguished.[3]
See also
References
- ^ 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
This page was last edited on 2 November 2023, at 06:17