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210136 Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome

definition

Pulmonary fibrosis - hepatic hyperplasia - bone marrow hypoplasia, also named “trimorphic syndrome” (i.e. three (inherited) morbidities, pulmonary, hepatic and cytopenia), is a rare disease reported in 4 cases to date, manifesting with idiopathic pulmonary fibrosis, hepatic nodular regenerative hyperplasia leading to portal hypertension and thrombocytopenia due to bone marrow hypoplasia. The condition was associated with 100% mortality.