Griscelli syndrome

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Griscelli syndrome

Griscelli syndrome (pronounced: grih-SELL-ee sin-drome) is a rare genetic disorder characterized by pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts, and an accumulation of melanosomes in melanocytes. The syndrome is named after the French pediatrician and geneticist, Claude Griscelli, who first described it in 1978.

Etymology

The term "Griscelli syndrome" is derived from the name of its discoverer, Claude Griscelli, a renowned French pediatrician and geneticist. The term "syndrome" is derived from the Greek word "syndromē", which means "concurrence of symptoms, concourse".

Types

There are three known types of Griscelli syndrome, each associated with a different genetic mutation:

  • Griscelli syndrome type 1 (GS1): This type is caused by mutations in the MYO5A gene. It is characterized by neurological impairment but no immune deficiency.
  • Griscelli syndrome type 2 (GS2): This type is caused by mutations in the RAB27A gene. It is characterized by immune deficiency and can lead to an accelerated phase of disease with fever, hepatosplenomegaly, lymphadenopathy, pancytopenia, and hemophagocytosis.
  • Griscelli syndrome type 3 (GS3): This type is caused by mutations in the MLPH gene. It is characterized by hypopigmentation without neurological impairment or immune deficiency.

Symptoms

Common symptoms of Griscelli syndrome include:

  • Hypopigmentation of the skin and hair
  • Silver-gray hair
  • Neurological impairment (in GS1)
  • Immune deficiency (in GS2)

Diagnosis

Diagnosis of Griscelli syndrome is based on clinical features, microscopic examination of the hair, and genetic testing. The presence of large clumps of pigment in hair shafts and an accumulation of melanosomes in melanocytes are characteristic findings.

Treatment

Treatment for Griscelli syndrome is largely supportive and depends on the type. Bone marrow transplantation has been successful in some cases of GS2.

See also

References

External links

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