Hermansky-Pudlak Syndrome Differential Diagnoses

Updated: Jul 28, 2020
  • Author: Ahmed Farghaly Abdelhameed Omar, MD, PhD; Chief Editor: Hampton Roy, Sr, MD  more...
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DDx

Diagnostic Considerations

Diagnostic criteria for HPS require tyrosine-positive OCA and a platelet storage pool deficiency. OCA is a clinical diagnosis and features diffuse hypopigmentation of the skin, hair, iris, and retina. OCA can be diagnosed in newborns. Common ocular manifestations include iris transillumination defects and retinal hypopigmentation. [20]

Differential Diagnoses