Cutaneovisceral angiomatosis with thrombocytopenia

Pediatr Dev Pathol. 2005 Jul-Aug;8(4):407-19. doi: 10.1007/s10024-005-1124-2. Epub 2005 Jul 19.

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.

MeSH terms

  • Angiogenesis Inhibitors / therapeutic use
  • Angiomatosis / complications
  • Angiomatosis / drug therapy
  • Angiomatosis / metabolism
  • Angiomatosis / pathology*
  • Antigens, CD / metabolism
  • Biomarkers / metabolism
  • Child
  • Child, Preschool
  • Female
  • Gastrointestinal Diseases / complications
  • Gastrointestinal Diseases / drug therapy
  • Gastrointestinal Diseases / metabolism
  • Gastrointestinal Diseases / pathology*
  • Glucocorticoids / therapeutic use
  • Humans
  • Immunoenzyme Techniques
  • Infant
  • Male
  • Skin Diseases / complications
  • Skin Diseases / drug therapy
  • Skin Diseases / metabolism
  • Skin Diseases / pathology*
  • Thrombocytopenia / complications
  • Thrombocytopenia / drug therapy
  • Thrombocytopenia / metabolism
  • Thrombocytopenia / pathology*

Substances

  • Angiogenesis Inhibitors
  • Antigens, CD
  • Biomarkers
  • Glucocorticoids