TY - JOUR
T1 - Hermansky-pudlak syndrome complicated by pulmonary fibrosis
T2 - Radiologic-pathologic correlation and review of pulmonary complications
AU - Kelil, Tatiana
AU - Shen, Jeanne
AU - O'Neill, Ailbhe
AU - Howard, Stephanie
N1 - Publisher Copyright:
© 2014 Kelil et al.
PY - 2014/1/1
Y1 - 2014/1/1
N2 - Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous hypopigmentation, platelet dysfunction, and in many cases, life-threatening pulmonary fibrosis. We report the clinical course, imaging, and postmortem findings of a 38-year-old female with HPS-related progressive pulmonary fibrosis, highlighting the role of imaging in assessment of disease severity and prognosis.
AB - Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous hypopigmentation, platelet dysfunction, and in many cases, life-threatening pulmonary fibrosis. We report the clinical course, imaging, and postmortem findings of a 38-year-old female with HPS-related progressive pulmonary fibrosis, highlighting the role of imaging in assessment of disease severity and prognosis.
KW - Hermansky-Pudlak syndrome
KW - oculocutaneous hypopigmentation
KW - platelet dysfunction
KW - pulmonary fibrosis
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U2 - 10.4103/2156-7514.143437
DO - 10.4103/2156-7514.143437
M3 - Review article
C2 - 25379352
AN - SCOPUS:84908460380
SN - 2156-7514
VL - 4
SP - 59
JO - Journal of Clinical Imaging Science
JF - Journal of Clinical Imaging Science
IS - 1
ER -