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Griscelli Disease

Griscelli Disease Causes

It is often linked to mutations in MYO5A and RAB27A.

Griscelli Disease Definition

Griscelli Disease, GS for brevity is an autosomal recessive disorder that results in the pigmentary dilution of the skin and the hair, the accumulation of the melanosome in melanocytes. It involves impairment of the lymphocyte function and the inability to produce normal levels of immunoglobulins (Griscelli C, Prunieras M. Pigment dilution and immunodeficiency: a new syndrome. Int J Dermatol. Dec 1978;17(10):788-91).

Griscelli Disease Symptoms and Signs

Symptoms include pigmentary dilution of the skin and hair silver. The presence of large clumps in the pigment in hair shafts and accumulation of melanosomes are also shown.

Griscelli Disease Treatment

Treatment of the medical condition includes administration of antibiotics and antiviral agents. To some extent bone marrow transplantation and surgical care is also advised especially to those patients that have GC that is caused by the mutation of RAB27A.

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