Clinical features
The defect in subcellular membranes results in varied clinical manifestations:
- pigmentation:
- melanocytes tranfer melanin inefficiently to keratinocytes
- there is variable hypopigmentation; in severe cases there is tyrosinase-positive oculocutaneous albinism
- platelet function:
- reduced numbers of platelet dense bodies
- results in bruising, epistaxis, GI bleeding and a prolonged bleeding time
- immune deficiency:
- giant-lysosomes fuse poorly with phagocytic vacuoles
- childhood infections become life-threatening
- progressive peripheral neuropathy:
- onset about 5 years
- onset about 5 years
- lymphoreticular malignancy:
- fatal
Reference
- Anitha Ajitkumar et al. Chediak-Higashi Syndrome. StatPearls [Internet]. StatPearls Publishing; Treasure Island (FL): January 2025
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