Griscelli syndrome type 2
| Griscelli syndrome type 2 | |
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| Other names: Hypopigmentation-immunodeficiency with or without neurologic impairment syndrome | |
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| This condition is inherited in an autosomal recessive manner | |
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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
In terms of the management of this condition Bone marrow transplantation is an effective treatment. For recurrent infections antiviral (antibacterial) medications may be used[2]
History
This syndrome was first described in 1978.[3] In 2000 types 1 and 2 were distinguished.[4]
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 syndrome type 2 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Archived from the original on 18 March 2021. Retrieved 19 August 2021.
- ↑ 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
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| External resources |
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