Griscelli syndrome type 3

Griscelli syndrome type 3 (pronounced: grih-SELL-ee sin-drome type three) is a rare genetic disorder characterized by partial albinism and immune system abnormalities.

Etymology

The syndrome is named after the French pediatrician and geneticist, Claude Griscelli, who first described it in 1978. The term "type 3" refers to the third variant of the syndrome, which is distinguished by the absence of immune system abnormalities that are present in types 1 and 2.

Definition

Griscelli syndrome type 3 is a genetic disorder that primarily affects the skin and hair. Individuals with this condition typically have light skin and silvery-gray hair from birth. Unlike types 1 and 2, type 3 does not affect the immune system.

Causes

Griscelli syndrome type 3 is caused by mutations in the MLPH gene. This gene provides instructions for making a protein involved in the distribution of pigment-containing structures called melanosomes, which give color to skin and hair.

Symptoms

The primary symptom of Griscelli syndrome type 3 is hypopigmentation, or reduced pigmentation, of the skin and hair. This results in light skin and silvery-gray hair from birth. Other symptoms may include light-colored eyes and vision problems.

Diagnosis

Diagnosis of Griscelli syndrome type 3 is based on clinical examination, genetic testing, and microscopic examination of the hair. The hair of individuals with this condition typically has large clumps of pigment, which can be seen under a microscope.

Treatment

There is currently no cure for Griscelli syndrome type 3. Treatment is symptomatic and supportive, and may include measures to protect the skin and eyes from sun damage.

Related Terms

External links

Medical encyclopedia article on Griscelli syndrome type 3
Wikipedia's article - Griscelli syndrome type 3

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