Hermansky-Pudlak Syndrome: A Rare Congenital Disorder With Interstitial Lung Disease

TL;DR

This case report describes a rare genetic disorder called Hermansky-Pudlak Syndrome and its associated lung disease, highlighting unique imaging features and multi-systemic effects.

Contribution

The report emphasizes distinguishing lung disease features in Hermansky-Pudlak Syndrome from other interstitial lung diseases.

Findings

Pulmonary imaging in HPS shows traction bronchiectasis and reticulations similar to idiopathic pulmonary fibrosis.

HPS lung disease has unique features that differentiate it from other interstitial lung diseases.

The case highlights the multisystemic nature of Hermansky-Pudlak Syndrome beyond lung disease.

Abstract

Hermansky-Pudlak syndrome (HPS) is a genetic multisystemic disorder with oculocutaneous albinism, granulomatous colitis, bleeding diathesis, and pulmonary fibrosis. Multiple subtypes of HPS exist, with certain types having higher predilection for pulmonary fibrosis. This case report focuses on the demonstration of pulmonary imaging findings seen in a patient. Several imaging features overlap with idiopathic pulmonary fibrosis including traction bronchiectasis, pleural and peribronchovascular thickening, and reticulations. This case report highlights the differences seen in lung disease associated with HPS compared to other interstitial lung diseases, in addition to the multi-systemic features of HPS.

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