title: Cutaneovisceral angiomatosis with thrombocytopenia.
abstract: We describe 10 children with multiple vascular lesions of the skin and gastrointestinal tract associated with sustained, minor thrombocytopenia. In some children, there was involvement of the lung (n = 5), bone (n = 2), liver (n = 1), spleen (n = 1), and muscle (n = 1). The cutaneous lesions were congenital, multifocal, discrete, red-brown and variably blue macules and papules; in 3 children, a large dominant plaque was also present. All children developed hematemesis and/or melena and endoscopic evaluation revealed several to numerous small mucosal lesions that involved all levels of the gastrointestinal tract. Three of 5 children with pulmonary nodules had cough and 1 also had hemoptysis. Biopsies of cutaneous, gastrointestinal, and pulmonary lesions showed thin-walled, blood-filled vascular channels and variable endothelial hyperplasia. The endothelial nuclei were elongated, round, crescentic, or hobnailed. Cytoplasmic and extracellular periodic acid-Schiff positive deposits were often present in the zones of endothelial hyperplasia. The platelets were small in some children, suggesting a primary defect, possibly accounting for the thrombocytopenia. Gastrointestinal hemorrhage and hemoptysis required antiangiogenic therapy. The constellation of findings defines a congenital proliferative disorder of blood vessels with a distinctive microscopic appearance. We have termed this relatively indolent or slowly progressive disorder cutaneovisceral angiomatosis with thrombocytopenia because this designation incorporates its major clinical and histopathologic features.
authors: Department of Pathology, Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
authors: Vinay
authors: V
authors: Prasad
authors: Steven J
authors: SJ
authors: Fishman
authors: John B
authors: JB
authors: Mulliken
authors: Victor L
authors: VL
authors: Fox
authors: Marilyn G
authors: MG
authors: Liang
authors: Giannoula
authors: G
authors: Klement
authors: Mark W
authors: MW
authors: Kieran
authors: Patricia E
authors: PE
authors: Burrows
authors: David A
authors: DA
authors: Waltz
authors: Julie
authors: J
authors: Powell
authors: Josée
authors: J
authors: Dubois
authors: Moise L
authors: ML
authors: Levy
authors: Antonio R
authors: AR
authors: Perez-Atayde
authors: Harry P W
authors: HP
authors: Kozakewich
mesh_terms: D020533:Angiogenesis Inhibitors / Q000627:therapeutic use; D000798:Angiomatosis / Q000150:complications / Q000188:drug therapy / Q000378:metabolism / Q000473:pathology*; D015703:Antigens, CD / Q000378:metabolism; D015415:Biomarkers / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D005260:Female; D005767:Gastrointestinal Diseases / Q000150:complications / Q000188:drug therapy / Q000378:metabolism / Q000473:pathology*; D005938:Glucocorticoids / Q000627:therapeutic use; D006801:Humans; D007124:Immunoenzyme Techniques; D007223:Infant; D008297:Male; D012871:Skin Diseases / Q000150:complications / Q000188:drug therapy / Q000378:metabolism / Q000473:pathology*; D013921:Thrombocytopenia / Q000150:complications / Q000188:drug therapy / Q000378:metabolism / Q000473:pathology*
chemical_list: D020533:Angiogenesis Inhibitors; D015703:Antigens, CD; D015415:Biomarkers; D005938:Glucocorticoids