A case of hermansky-pudlak syndrome associated with diffuse interstitial pneumonia.

Hermansky-Pudlak Syndrome with an Improvement in the Respiratory Symptoms after the Administration of Pirfenidone: A Case Report

“…HPS-IP is known to exhibit imaging findings on chest radiographs and CT scans that differ from those of idiopathic interstitial pneumonia (IIP). In IIP, the subpleural lower lung zones are typically dominant, whereas in HPS, abnormal shadows are present in all lung fields but are often absent in the subpleural regions (16,17). In this case, a uniformly distributed ground-glass opacity was observed from the upper to lower lobes of both lungs, sparing the subpleural regions and revealing a centrally elevated density along the bronchovascular bundle within a few centimeters medial to the pleura.…”

Hermansky-Pudlak Syndrome with Interstitial Pneumonia without Mutation of HSP1 Gene

“…Interstitial pneumonia due to HPS differs from idiopathic interstitial pneumonia (IIP) in the distribution of abnormal shadows as a radiological finding and fibrosis as a pathological finding (6,12). Namely, the distribution of abnormal shadows is dominant in subpleural zones in the bilateral lower lung fields in cases with IIP.…”

“…The HPS1 gene is located on chromosome 10q23 (10) and consists of 20 exons that encode a 700 amino acid, 30.5-kb protein that contains two putative transmembrane domains (11). Although the prognosis of HPS with interstitial pneumonia is poor in Japan or Puerto Rico and corticosteroid or other immunosuppressive drugs have been ineffective (12)(13)(14), HPS with interstitial pneumonia caused by the same HPS1 gene mutations in the Swiss Alps has generally been less clinically severe than in other populations. This is because the difference in prognosis among races has been suspected to relate to the difference in the abnormal portion of HPS1 gene (15).…”