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Griscelli syndrome
Pathology:
- accumulation of melanosomes in melanocytes
- hypomelanosis with:
a) neurologic disorder (type 1)
b) immunologic disorder (type 2)
c) dermatologic disorder (type 3)
- both neurologic & immunologic disorder may occur together
Epidemiology: rare
Genetics:
- autosomal recessive
- associated with defects in MYO5A (type 1, type 3)
- associated with defects in RAB27A (type 2)
- associated with defects in MLPH (type 3)
Clinical manifestations:
- pigmentary dilution of the skin & hair (hypomelanosis)
- presence of large clumps of pigment in hair shafts
- silvery-gray hair
Related
Griscelli syndrome
Specific
Griscelli syndrome type-1 (Chediak-Higashi-like syndrome)
Griscelli syndrome type-2 (Chediak-Higashi-like syndrome)
Griscelli syndrome type-3
General
genetic disease of the immune system
genetic syndrome (multisystem disorder)
immunodeficiency; immunodeficiency syndrome
References
- Pastural E et al
Griscelli disease maps to chromosome 15q21 and is associated
with mutations in the myosin-Va gene.
Nature Genetics 16:289-92, 1997
PMID: 9207796
- OMIM :accession 214450
- OMIM :accession 607624