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Open Access
AJP Rep 2013; 03(02): 063-066
DOI: 10.1055/s-0033-1338168
Case Report
Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

BRAF V600E-Positive Multisite Langerhans Cell Histiocytosis in a Preterm Neonate

Authors

  • Sara V. Bates

    1   Division of Neonatology and Newborn Medicine, Department of Pediatrics, Massachusetts General Hospital for Children, Harvard Medical School, Boston, Massachusetts
    *   These authors contributed equally as primary authors (co–first authors).

  • Ashwini Lakshmanan

    2   Division of Newborn and Infant Critical Care, Department of Pediatrics, Children's Hospital Los Angeles, Keck School of Medicine, Los Angeles, California
    *   These authors contributed equally as primary authors (co–first authors).

  • Adam L. Green

    3   Division of Hematology-Oncology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts
    4   Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, Massachusetts

  • Jefferson Terry

    5   Department of Pathology, McMaster Children's Hospital, Hamilton, Ontario, Canada

  • Gayane Badalian-Very

    6   Department of Medical Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, Massachusetts

  • Barrett J. Rollins

    6   Department of Medical Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, Massachusetts
    7   Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts

  • Patricia Fleck

    8   Department of Pediatrics, Division of Newborn Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts

  • Muhammad Aslam

    1   Division of Neonatology and Newborn Medicine, Department of Pediatrics, Massachusetts General Hospital for Children, Harvard Medical School, Boston, Massachusetts
    †   These authors contributed equally as senior authors (co–senior authors).

  • Barbara A. Degar

    3   Division of Hematology-Oncology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts
    4   Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, Massachusetts
    †   These authors contributed equally as senior authors (co–senior authors).
Further Information

Publication History

13 December 2012

24 January 2013

Publication Date:
18 March 2013 (online)

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Abstract

Hemorrhagic pustules with a “blueberry muffin” appearance accompanied by respiratory failure in a neonate present a challenging differential diagnosis that includes infections and neoplasms. We present a case of multiorgan, multisite Langerhans cell histiocytosis (LCH), positive for the oncogenic BRAF V600E mutation, in a preterm neonate. Infants with LCH pose a diagnostic challenge due to their heterogeneous presentations. This case is unusual in that the newborn presented with severe multiorgan involvement. Due to the rare incidence, wide spectrum of clinical manifestations, and high mortality rate, clinicians must maintain a high index of suspicion for LCH.

Keywords

Langerhans cell histiocytosis - BRAF V600E - preterm neonate - multiorgan - multisite - hemorrhagic pustules