Chediak-Higashi syndrome

A syndrome characterized by oculocutaneous albinism, immune deficiency, coagulation deficiency and neuropathy and that has_material_basis_in homozygous or compound heterozygous mutation in the lysosomal trafficking regulator gene (LYST) on chromosome 1q42.

Signs and symptoms

• Hypopigmentation of hair
• Hypopigmentation of the skin
• Giant neutrophil granules
• Anemia
• Silver-gray hair
• Ocular albinism
• Recurrent infections
• Recurrent bacterial skin infections
• Cranial nerve paralysis
• Strabismus

Also known as: CHS; Chediak - Steinbrinck anomaly