Internal Medicine and Medical Investigation Journal

ISSN: 2474-7750

Fatal Pulmonary Fibrosis due to Hermanski-Pudlak Syndrome: A Rare Case Report with OpenLung Biopsy Findings


Author(s): Ali Alavi Foumani1, Farnaz Aligolighasemabadi2, 3*, Mohammadamin Sadeghdoust2, 3, Neda Aligolighasemabadi

Hermanski-Pudlak Syndrome is an extremely rare autosomal recessive

disorder. Albinism, bleeding diathesis and other associated complications are the main

manifestations of Hermanski-Pudlak Syndrome.

Case Presentation:

Here we report a

56-year-old woman who was referred with gradually increasing dyspnea. She had a past

history of coughing, epistaxis, gums bleeding, easy bruising and severe sunburn in

normal sun exposure. Her blood oxygen saturation was 87% in room air. Physical

examination revealed oculocutaneous albinism, strabismus, horizontal nystagmus and

fine inspiratory crackle. There was a reticulonodular pattern in chest radiography. Open

lung biopsy confirmed the diagnosis of pulmonary fibrosis. Although the patient had

been treated with Pirfenidone, she died because of respiratory failure.


Although Hermanski-Pudlak Syndrome is a rare syndrome, finding more

about the pathophysiology of Hermanski-Pudlak Syndrome and also developing new

methods of treatment is indisputable.

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