Conditions / Skin
Griscelli syndrome type 2
info · Skin
A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and immunodeficiency with or without neurologic impairment that has_material_basis_in mutation in the RAB27A gene on chromosome 15q21.3.
Signs and symptoms
- Melanin pigment aggregation in hair shafts
- Hemophagocytosis
- Silver-gray hair
- Fever
- Hepatosplenomegaly
- Reduced delayed hypersensitivity
- Seizure
- Hypopigmentation of the skin
- Recurrent bacterial infections
- Accumulation of melanosomes in melanocytes
Also known as: GS2; Griscelli syndrome with hemophagocytic syndrome; Griscelli-Prunieras syndrome type 2; PAID syndrome; hypopigmentation-immunodeficiency with or without neurologic impairment syndrome