Contents

SynopsisCodesLook ForDiagnostic PearlsDifferential Diagnosis & PitfallsBest TestsManagement PearlsTherapyReferences

View all Images (4)

Hermansky-Pudlak syndrome in Adult
Other Resources UpToDate PubMed

Hermansky-Pudlak syndrome in Adult

Contributors: Harold E. Cross MD, PhD, Lauren Patty Daskivich MD, MSHS
Other Resources UpToDate PubMed

Synopsis

Hermansky-Pudlak syndrome consists of a group of genetically heterogeneous disorders resulting from homozygous mutations in at least 9 genes. The major features include oculocutaneous albinism, immunodeficiency, abnormal bleeding, and lysosomal ceroid storage. Bleeding abnormalities include prolonged bleeding time and defective platelet aggregation. Platelets lack the usual dense bodies. Hypopigmentation is notable in the skin, eyes, and hair, but excess pigmentation is seen in reticuloendothelial cells.

The disorder may be the most common single gene disorder in Puerto Rico, where the carrier frequency has been estimated to be as high as 1 in 21 individuals.

Codes

ICD10CM:
E70.331 – Hermansky-Pudlak syndrome

SNOMEDCT:
9311003 – Hermansky-Pudlak syndrome

Look For

Subscription Required

Diagnostic Pearls

Subscription Required

Differential Diagnosis & Pitfalls

  • The general appearance and the ocular findings are similar to the findings in generalized oculocutaneous albinism. In fact, several types of oculocutaneous albinism can resemble Hermansky-Pudlak syndrome. However, such patients have no bleeding problems and, except for the vision deficit, are otherwise healthy.
  • Similar pigmentary changes may also be seen in Chediak-Higashi syndrome, but the hypopigmentation may be patchy and less generalized. Chediak-Higashi syndrome is accompanied by adenopathy, hepatosplenomegaly, neutropenia, neuropathy, thrombocytopenia, and susceptibility to infection. The presence of giant peroxidase-positive inclusions in leukocytes is diagnostic for Chediak-Higashi syndrome.

Best Tests

Subscription Required

Management Pearls

Subscription Required

Therapy

Subscription Required

References

Subscription Required

Last Updated:01/17/2022
Copyright © 2023 VisualDx®. All rights reserved.
Hermansky-Pudlak syndrome in Adult
A medical illustration showing key findings of Hermansky-Pudlak syndrome : Photophobia, Bleeding time prolonged, Easy bruising, Nystagmus, Gingival bleeding
Clinical image of Hermansky-Pudlak syndrome - imageId=572638. Click to open in gallery.
Copyright © 2023 VisualDx®. All rights reserved.