clinical features
Last reviewed 01/2018
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