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.
Hermansky-Pudlak syndrome in Adult
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Codes
ICD10CM:
E70.331 – Hermansky-Pudlak syndrome
SNOMEDCT:
9311003 – Hermansky-Pudlak syndrome
E70.331 – Hermansky-Pudlak syndrome
SNOMEDCT:
9311003 – Hermansky-Pudlak syndrome
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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.
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Last Updated:01/17/2022
Hermansky-Pudlak syndrome in Adult