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Clinical features

Authoring team

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

  • lymphoreticular malignancy:
    • fatal

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