CTICasesHermansky-Pudlak Syndrome Pulmonary Fibrosis
Imaging findings
A 52-year-old man of Indian descent with oculocutaneous albinism and a platelet deficiency, genetically confirmed to have Hermansky-Pudlak syndrome, had CT showing subtotal reticulation with small foci of honeycombing in the lower lobes, traction bronchiectasis, and ground glass out of proportion to the degree of fibrosis; follow-up imaging a few years later showed progression with more extensive central ground glass in the lower lobes, an overall pattern that remained difficult to classify as a specific idiopathic interstitial pneumonia.
Key takeaways
Hermansky-Pudlak syndrome is an autosomal recessive disorder (with multiple causative genes across different subtypes) combining oculocutaneous albinism, platelet dysfunction/bleeding diathesis, and progressive pulmonary fibrosis that, like other genetic fibrosing lung diseases, produces an imaging pattern that does not fit cleanly into standard UIP/NSIP categories and should be suspected when albinism and bleeding tendency accompany unclassifiable fibrosis.
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