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.
Conclusion:
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.