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Cutaneovisceral Angiomatosis With Thrombocytopenia

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Pediatric and Developmental Pathology

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.

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Acknowledgments

Appreciation is extended to Carole Roberts, MS, PNP, Tricia Lane, RN, MSN, CPNP, and Alison Smith, BA, of the Vascular Anomalies Center for providing information from the Boston Vascular Anomalies Center’s database; Jim Edwards for technical assistance in the preparation of histology slides; and Cathy Curran and Howard Mulhern for technical assistance in electron microscopy.

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Authors and Affiliations

  1. Department of Pathology, Children’s Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, MA, 02115, USA

    Vinay Prasad, Antonio R. Perez-Atayde & Harry P.W. Kozakewich

  2. Department of Surgery, Children’s Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, MA, 02115, USA

    Steven J. Fishman & John B. Mulliken

  3. Department of Medicine, Children’s Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, MA, 02115, USA

    Victor L. Fox, Marilyn G. Liang, Giannoula Klement, Mark W. Kieran & David A. Waltz

  4. Department of Radiology, Children’s Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, MA, 02115, USA

    Patricia E. Burrows

  5. Department of Medicine, Hôpital Sainte-Justine, Montre´al University, 3175 CÔte Ste-Catherine, Montre´al, PQ, H3T 1C5, Canada

    Julie Powell

  6. Department of Radiology, Hôpital Sainte-Justine, Montre´al University, 3175 CÔte Ste-Catherine, Montre´al, PQ, H3T 1C5, Canada

    Josée Dubois

  7. Dermatology and Pediatrics, Baylor College of Medicine, Texas Children’s Hospital, 6621 Fannin Street, Houston, TX, 77030, USA

    Moise L. Levy

Authors
  1. Vinay Prasad
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  2. Steven J. Fishman
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  3. John B. Mulliken
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  4. Victor L. Fox
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  5. Marilyn G. Liang
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  6. Giannoula Klement
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  7. Mark W. Kieran
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  8. Patricia E. Burrows
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  9. David A. Waltz
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  10. Julie Powell
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  11. Josée Dubois
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  12. Moise L. Levy
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  13. Antonio R. Perez-Atayde
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  14. Harry P.W. Kozakewich
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Corresponding author

Correspondence to Harry P.W. Kozakewich.

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Prasad, V., Fishman, S.J., Mulliken, J.B. et al. Cutaneovisceral Angiomatosis With Thrombocytopenia. Pediatr Dev Pathol 8, 407–419 (2005). https://doi.org/10.1007/s10024-005-1124-2

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  • DOI: https://doi.org/10.1007/s10024-005-1124-2

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