[Pulmonary fibrosis in Hermansky-Pudlak syndrome is not fully usual].
A 55-year-old female patient with Hermansky-Pudlak syndrome (albinism, thrombopathia and ceroid accumulation) underwent a single lung transplantation for pulmonary fibrosis. Examination of explanted lung showed usual interstitial pneumonia pattern associated with two unusual lesions: presence of numerous macrophages containing ceroid pigments within fibrosis and characteristic foamy swelling of pneumocytes. This later lesion, which has only been recently described, seems related to the mechanism of the disease by defect of surfactant secretion. This lesion allows the histological individualization of pulmonary fibrosis associated with Hermansky-Pudlak syndrome from idiopathic usual interstitial pneumonia.
Thomas de Montpréville
Vincent
V
Service d'Anatomie Pathologique, Centre chirurgical Marie Lannelongue, 133 avenue de la Résistance, 92350 Le Plessis Robinson. v.thomasdemontprevil@ccml.fr
Mussot
Sacha
S
Dulmet
Elisabeth
E
Dartevelle
Philippe
P
D005260:Female; D022861:Hermanski-Pudlak Syndrome / Q000150:complications* / Q000473:pathology*; D006801:Humans; D008875:Middle Aged; D011658:Pulmonary Fibrosis / Q000209:etiology* / Q000473:pathology