title: BRAF V600E-Positive Multisite Langerhans Cell Histiocytosis in a Preterm Neonate.
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.
authors.affiliation: 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).
authors.forename: Sara V
authors.initials: SV
authors.lastname: Bates
authors.forename: Ashwini
authors.initials: A
authors.lastname: Lakshmanan
authors.forename: Adam L
authors.initials: AL
authors.lastname: Green
authors.forename: Jefferson
authors.initials: J
authors.lastname: Terry
authors.forename: Gayane
authors.initials: G
authors.lastname: Badalian-Very
authors.forename: Barrett J
authors.initials: BJ
authors.lastname: Rollins
authors.forename: Patricia
authors.initials: P
authors.lastname: Fleck
authors.forename: Muhammad
authors.initials: M
authors.lastname: Aslam
authors.forename: Barbara A
authors.initials: BA
authors.lastname: Degar
keywords: BRAF V600E; Langerhans cell histiocytosis; hemorrhagic pustules; multiorgan; multisite; preterm neonate