Hermansky-Pudlak syndrome in Child
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.
E70.331 – Hermansky-Pudlak syndrome
9311003 – Hermansky-Pudlak syndrome
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.