Hermansky-Pudlak Syndrome: A Rare Congenital Disorder With Interstitial 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.

Keywords: ground-glass opacities; honeycombing; ild interstitial lung disease; pulmonary interstitial fibrosis; traction bronchiectasis.

Figure 1. Progression of disease.

(A) Coronal CT image at baseline showing few early ground glass reticular densities in the periphery predominantly at the lung apices and lung bases (black star) with mild traction bronchiectasis (black arrow). (B) Coronal CT image two years later when the patient presented with worsening dyspnea. The image shows the progression of lung disease with progression in the distribution of ground glass and reticular densities (black star) now involving the central regions in the upper and mid lung bilaterally with signs of fibrosis and mild traction bronchiectasis (black arrow).

Figure 2. High-resolution CT performed two years after the initial scan.

High-resolution axial CT at the upper lobes (A), carina (B), and lung bases (C) demonstrating ground glass opacities and findings of fibrosis with areas of traction bronchiectasis, overall encompassing more than two-thirds of the lungs (black arrows).