Griscelli syndrome type 1

A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and neurological impairment without immunodeficiency that has_material_basis_in mutations in the MYO5A gene on chromosome 15q21.2.

Signs and symptoms

• Seizure
• Melanin pigment aggregation in hair shafts
• Silver-gray hair
• White eyelashes
• Large clumps of pigment irregularly distributed along hair shaft
• White eyebrow
• Accumulation of melanosomes in melanocytes
• Hypopigmentation of the skin
• Global developmental delay
• Recurrent tonsillitis

Also known as: GS1; Griscelli syndrome with neurological impairment; Griscelli syndrome, cutaneous and neurological type; Griscelli-Prunieras syndrome type 1; hypopigmentation-neurologic impairment syndrome