Griscelli syndrome type 2

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Griscelli syndrome type 2 (pronounced: grih-SELL-ee sin-drome type two) is a rare genetic disorder characterized by skin and hair hypopigmentation, along with an immune system dysfunction.

Etymology

The syndrome is named after the French pediatrician, Claude Griscelli, who first described it in 1978. The term "type 2" refers to the specific genetic mutation involved in this variant of the syndrome.

Definition

Griscelli syndrome type 2 is a disorder that affects the pigmentation of the skin and hair, and also causes problems with the immune system. This condition is one of three types of Griscelli syndrome, each of which has different signs and symptoms.

Symptoms

The primary symptoms of Griscelli syndrome type 2 include hypopigmentation of the skin and hair, leading to a silver-gray sheen of the hair and light skin color. The immune system dysfunction can lead to an overactive immune response, causing inflammation and damage to organs and tissues (hemophagocytic lymphohistiocytosis).

Causes

Griscelli syndrome type 2 is caused by mutations in the RAB27A gene. This gene provides instructions for making a protein that is involved in the movement of pigment-containing vesicles within cells.

Diagnosis

Diagnosis of Griscelli syndrome type 2 is based on the clinical symptoms, microscopic examination of the hair shaft, and genetic testing confirming a mutation in the RAB27A gene.

Treatment

Treatment for Griscelli syndrome type 2 is primarily supportive, focusing on managing the symptoms and preventing complications. This may include immunosuppressive therapy and, in severe cases, hematopoietic stem cell transplantation.

Prognosis

The prognosis for individuals with Griscelli syndrome type 2 varies. Without treatment, severe immune system dysfunction can be life-threatening. However, with early diagnosis and appropriate treatment, individuals with this condition can lead a normal life.

See also

External links

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