Infantile-onset inflammatory bowel disease in a patient with Hermansky-Pudlak syndrome: a case report.

ABSTRACT:

Background

Hermansky-Pudlak syndrome (HPS) is a rare, genetically heterogeneous disorder that manifests oculocutaneous albinism together with bleeding diatheses that reflect a platelet storage pool deficiency. Ten genetic subtypes of this autosomal recessive condition have been described to date. Some patients with Hermansky-Pudlak syndrome type 1, 4, or 6 develop Crohn's-like inflammatory bowel disease at any age including early childhood, but most often in adolescence or young adulthood. Here we report infantile-onset of inflammatory bowel disease in a patient with Hermansky-Pudlak syndrome type 1 who responded to infliximab.

Case presentation

A Japanese boy, the second child of non-consanguineous healthy parents, was born with chalky white skin, silvery-white hair, and gr

SUBMITTER: Ishihara J 

PROVIDER: S-EPMC6329123 | biostudies-literature | 2019 Jan

REPOSITORIES: biostudies-literature