Partial albinism and immunodeficiency syndrome
Griscelli syndrome with hemophagocytic syndrome
Griscelli disease type 2
Griscelli syndrome is an inherited condition characterized by unusually light (Hypopigmented) skin and light silvery-gray hair starting in infancy. Researchers have identified three types of this disorder, which are distinguished by their genetic cause and pattern of signs and symptoms. Griscelli syndrome is a rare condition; its prevalence is unknown. Type 2 appears to be the most common of the three known types.
People with Griscelli syndrome type 2 (also known as "Partial albinism with immunodeficiency") have immune system abnormalities in addition to having hypopigmented skin and hair. Affected individuals are prone to recurrent infections. They also develop an immune condition called hemophagocytic lymphohistiocytosis (HLH), in which the immune system produces too many activated immune cells called T-lymphocytes and macrophages (histiocytes). Overactivity of these cells can damage organs and tissues throughout the body, causing life-threatening complications if the condition is untreated. People with Griscelli syndrome type 2 do not have the neurological abnormalities of type 1.
- Pigment clumps in hair shafts
- Melanosome accumulation in melanocytes
- Recurrent neutropenia
- Low blood platelet level
- Decreased gamma globulin levels in blood
- Recurring decrease in blood fibrinogen level
- Silvery hair
- Frequent infections
- Premature death
- Neurological symptoms
- Death due to hemophagocytic syndrome
- Anemia - due to hemophagocytic syndrome
- Enlarged liver - due to hemophagocytic syndrome
- Enlarged spleen - due to hemophagocytic syndrome
- Lymphadenopathy - due to hemophagocytic syndrome
- Pancytopenia - due to hemophagocytic syndrome
- Fever - due to hemophagocytic syndrome
- Jaundice - due to hemophagocytic syndrome
- Neurological regression
- Reduced reflexes
- Loss of previously attained skills
- Abnormality of immune system physiology
- Hypopigmentation of hair
- Hypopigmented skin patches
- Premature graying of hair
Griscelli syndrome type 2 is caused by changes (mutations) in the RAB27A gene and is inherited in an autosomal dominant manner.
In some cases, Griscelli syndrome type 2 has been treated successfully with stem cell transplantation.