A Rare Case of Hermansky-Pudlak Syndrome Type 3

Abstract

Hermansky-Pudlak syndrome (HPS) is a multi-system disorder characterized by oculocutaneous albinism and platelet storage deficiency, which can also lead to prolonged bleeding, pulmonary fibrosis, and granulomatous colitis. Lysosome-related organelle dysfunction is responsible for many of the systemic manifestations, including dense body and melanosome deficiency. This report aims to review a case of HPS type 3 in a male Puerto Rican patient who presented to our clinic.

Case series on Silvery Hair Syndromes

“…The storage-pool defect arises from the absence of platelet dense bodies, which contain adenosine diphosphate, adenosine triphosphate, calcium, and serotonin. [ 12 ] Patients with HPS demonstrate easy bruising and prolonged bleeding after surgical procedures. The ocular findings include reduced iris pigment with iris transillumination, decreased retinal pigment, foveal hypoplasia with a significant reduction in visual acuity (usually in the range of 20/50–20/400), nystagmus, and increased crossing of the optic nerve fibers.…”

Hermansky-Pudlak syndrome presenting with paranoid delusion

“…HPS can present as one of 29 9 subtypes, each due to specific mutation variations, with Types 1 and 4 being the most severe 30 (1). Mutations in the HPS1 gene are responsible for the majority of HPS cases (1). HPS Type 3 31 classically presents milder than the other 8 subtypes (1).…”

“…Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder with classical presentations of oculocutaneous albinism, a bleeding diathesis due to the absence of dense bodies in platelets, pulmonary fibrosis, and granulomatous colitis 1 – 3 . These systemic manifestations are due to lysosome-related organelle dysfunction 1 .…”

“…Mutations in the HPS1 gene are responsible for the majority of HPS cases 1 . HPS type 3 classically presents milder than the other 8 subtypes 1 . HPS type 4 has shown an increased susceptibility to schizophrenia 4 , 5 …”

“…To the Editor, Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder with classical presentations of oculocutaneous albinism, a bleeding diathesis due to the absence of dense bodies in platelets, pulmonary fibrosis, and granulomatous colitis. [1][2][3] These systemic manifestations are due to lysosome-related organelle dysfunction. 1 HPS can present as 1 of 9 subtypes, each due to specific mutation variations, with types 1 and 4 being the most severe.…”