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Article

An intractable case of Hermansky-Pudlak syndrome.

Internal medicine (Tokyo, Japan) - 1 Jan 2014

Kanazu Masaki, Arai Toru, Sugimoto Chikatoshi, Kitaichi Masanori, Akira Masanori, Abe Yuko, Hozumi Yutaka, Suzuki Tamio, Inoue Yoshikazu

Abstract excerpt

A 52-year-old Japanese man with congenital amblyopia and oculocutaneous albinism was admitted to our hospital. Chest CT showed reticular opacities and traction bronchiectasis without honeycombing. Specimens obtained by a video-assisted thoracoscopic surgery showed patchy chronic fibrotic lesions. We diagnosed him with Hermansky-Pudlak syndrome (HPS). A mutation in the HPS1 gene was detected, and the diagnosis was...

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Source

Identifiers

PMID: 25400188
DOI: 10.2169/internalmedicine.53.2446

Genes

HPS1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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