A case of Hermansky-Pudlak with dyspnea

Abstract

Hermansky-Pudlak syndrome (HPS) is a rare multisystem disorder inherited in an autosomal recessive manner. Its prevalence is 1 in 500 000 to 1 000 000 people worldwide. The cause of this disorder is genetic mutations that lead to defective organelles of lysosomes. In this report, a 49-year-old man is introduced who was referred to the medical center with ocular albinism and recently exacerbated shortness of breath. Imaging showed peripheral reticular opacities, ground-glass opacities of the lungs with subpleural sparing in some regions, and thickening of bronchovascular bundles, which were all in favor of non-specific interstitial pneumonia. This imaging pattern is an unusual finding in a patient with HPS.

Figure 1

Patient’s pale white skin, white hair, blue-green eyes (a), and clubbing of fingers (b).

Figure 2

The patient’s CT scan shows reticular patterns (yellow arrow), ground-glass opacities (red arrow), subpleural sparing (orange arrow) and bronchoalveolar bundles thickening (blue arrow). Findings are suggestive of the possible diagnosis of fibrotic NSIP.