The diagnosis of HPS is established by clinical findings of hypopigmentation of the skin and hair, characteristic eye findings, and demonstration of absent dense bodies on whole mount electron microscopy of platelets. Molecular genetic testing of the HPS1 gene is available on a clinical basis for individuals from northwestern Puerto Rico. Molecular testing of the HPS3 gene is available on a clinical basis for individuals of central Puerto Rican or Ashkenazi Jewish heritage. Sequence analysis is available on a clinical basis for mutations in HPS1 and HPS4. Diagnosis of individuals with other types of HPS is available on a research basis only.
Hermansky–Pudlak syndrome
Keppen–Lubinsky syndrome
Sakati–Nyhan–Tisdale syndrome
Fox–Fordyce disease
Conradi–Hünermann syndrome
Kandinsky–Clérambault syndrome
Hallermann–Streiff syndrome
Shprintzen–Goldberg syndrome