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Brief Report
September 2016

Symptomatic Congenital Hemangioma and Congenital Hemangiomatosis Associated With a Somatic Activating Mutation in GNA11

Author Affiliations
  • 1Department of Dermatology, Oregon Health & Science University, Portland
  • 2Department of Dermatology, Yale University School of Medicine, New Haven, Connecticut
  • 3Department of Genetics, Yale University School of Medicine, New Haven, Connecticut
  • 4Department of Pathology, Yale University School of Medicine, New Haven, Connecticut
  • 5Division of Pediatric General, Thoracic, and Fetal Surgery, Department of Surgery, University of Colorado School of Medicine, Aurora
  • 6Department of Dermatology, University of Colorado School of Medicine, Aurora
  • 7Department of Pathology, University of Colorado School of Medicine, Aurora
  • 8Department of Pediatrics, University of Colorado School of Medicine, Aurora

Copyright 2016 American Medical Association. All Rights Reserved. Applicable FARS/DFARS Restrictions Apply to Government Use.

JAMA Dermatol. 2016;152(9):1015-1020. doi:10.1001/jamadermatol.2016.2365

Importance  Congenital hemangiomas are uncommon benign vascular tumors that present fully formed at birth. They are rarely associated with transient hematologic abnormalities, which are typically less severe than the Kasabach-Merritt phenomenon associated with kaposiform hemangioendotheliomas. Congenital hemangiomas are typically solitary and have not been reported to occur in a multifocal, generalized pattern.

Objective  To describe a male infant born with an unusual, large vascular mass complicated by anemia, thrombocytopenia, and disseminated intravascular coagulopathy, as well as innumerable small vascular papules in a generalized cutaneous distribution.

Design, Setting, and Participant  This case report is a descriptive observation of the results of clinical, pathologic, and genetic studies performed in a single male infant observed for 2 years (May 2013 to June 2015) for vascular anomalies at a tertiary care referral center.

Main Outcomes and Measures  Histopathologic, immunohistochemical, and genetic study results of tumor specimens and saliva.

Results  Careful pathologic study of 3 tumor specimens revealed similar lobular proliferations of bland endothelial cells. Lesional vessels did not express GLUT1 or the lymphatic marker D2-40, whereas WT1 was expressed. A somatic c.A626C, p.Q209P mutation in the GNA11 gene was identified in tumoral tissue.

Conclusions and Relevance  These findings support a unifying diagnosis of congenital hemangioma for these vascular tumors. To date, this is the first-reported case of a hemangiomatosis presentation of congenital hemangioma. In addition to highlighting this novel phenotype, this case indicates the rare association of congenital hemangioma with hematologic abnormalities and verifies somatic activating mutations as the underlying cause of congenital hemangioma.