Infantile hemorrhagic angiodysplasia.
We report a female infant who presented at birth with an unusual syndrome of disseminated cutaneous and gastrointestinal vascular malformations associated with severe thrombocytopenia and chronic gastrointestinal hemorrhage. The infant required extensive blood-product support and expired at 7 months of age. Postmortem examination confirmed the presence of numerous flat vascular lesions, descriptively classified as angiodysplastic, and composed of congeries of dilated capillaries, arterioles, and postcapillary venules. No visceral space-occupying hemangiomas were found. The case is discussed in relation to a spectrum of congenital vascular malformation syndromes including disseminated neonatal hemangiomatosis and hereditary hemorrhagic telangiectasia (HHT). Some pathologic characteristics appear to link it to the latter entity. However, other clinical and pathologic features distinguish it from the reported spectrum of congenital HHT, prompting its essentially descriptive designation.
D001808:Blood Vessels / Q000002:abnormalities*; D005260:Female; D006471:Gastrointestinal Hemorrhage / Q000473:pathology*; D006801:Humans; D007223:Infant; D007422:Intestines / Q000098:blood supply / Q000473:pathology; D012867:Skin / Q000098:blood supply* / Q000473:pathology; D013270:Stomach / Q000098:blood supply* / Q000473:pathology; D013577:Syndrome; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000151:congenital / Q000473:pathology; D013921:Thrombocytopenia / Q000473:pathology*