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Pulmonary Arteriovenous Malformations in Dyskeratosis Congenita
Author(s) -
Samuel Bennett P.,
Duffner Ulrich A.,
AbdelMageed Aly S.,
Vettukattil Joseph J.
Publication year - 2015
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/pde.12589
Subject(s) - medicine , dyskeratosis congenita , telangiectasia , tetralogy of fallot , shunting , hepatopulmonary syndrome , heart disease , cardiology , pathology , transplantation , liver transplantation , dna , genetics , telomere , biology
Pulmonary arteriovenous malformations ( PAVM s) are rare lesions known to cause cyanosis due to abnormal communication between the pulmonary arteries and veins. They are commonly seen in association with hereditary hemorrhagic telangiectasia, congenital heart disease, hepatopulmonary syndrome, and portopulmonary shunting, but rarely in patients with dyskeratosis congenita ( DC ). We describe a patient previously diagnosed with DC confirmed to have microscopic PAVM s after bone marrow transplantation and discuss possible pathogenic mechanisms.