Table 2b.

Differential Diagnosis of Hermansky-Pudlak Syndrome: Disorders of Platelet Delta Granules

Gene(s)DisorderMOIClinical Features
LYST Chediak-Higashi syndrome (CHS)AR
  • Significantly ↑ frequency of infection in childhood, partial OCA, & bleeding diathesis
  • Characterized by huge, fused, dysfunctional lysosomes & macromelanosomes.
  • Persons w/CHS always have giant intracellular granules in their neutrophils on peripheral blood smear (persons w/HPS never exhibit this finding).
  • ~85% of affected persons develop hemophagocytic lymphohistiocytosis or the accelerated phase of CHS, a finding that also sporadically occurs in AP3B1-related HPS. 1
  • All affected persons – incl adolescents & adults w/atypical CHS & children w/classic CHS who have successfully undergone allogenic HSCT – develop neurologic findings.
MLPH
MYO5A
RAB27A 		Griscelli syndrome 2 (OMIM 214450)AR
  • Mild hypopigmentation & immunodeficiency
  • Can have the accelerated phase of lymphohistiocytosis
  • A distinguishing finding is silver-gray hair.

AR = autosomal recessive; HPS = Hermansky-Pudlak syndrome; HSCT = hematopoietic stem cell transplantation; MOI = mode of inheritance; OCA = oculocutaneous albinism

1.
2.

Elejalde syndrome (OMIM 256710) is considered a type of Griscelli syndrome in which neurologic involvement (rather than immunodeficiency and lymphohistiocytosis) occurs.

From: Hermansky-Pudlak Syndrome

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