Chédiak–Higashi syndrome

Also known as: CHS

Partial oculocutaneous albinism with immunodeficiency and giant lysosomes.

Medical specialty: Dermatology
Subspecialty: Dermatology / Pigmentary disorders
Sex & age distribution: Male: affected; Female: affected, equal; Children: yes, infancy onset
Gene(s) involved: LYST

Etiology & mechanism

Defective lysosomal trafficking regulator.

Gene(s) involved (1)

LYST

Symptoms & signs (7)

bleeding tendencyhemophagocytic syndromehypopigmentationneuropathyphotophobiarecurrent infectionssilvery hair

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