BRAF V600E-Positive Multisite Langerhans Cell Histiocytosis in a Preterm Neonate
Open Access
- 18 March 2013
- journal article
- case report
- Published by Georg Thieme Verlag KG in American Journal of Perinatology Reports
- Vol. 03 (02), 063-066
- https://doi.org/10.1055/s-0033-1338168
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
This publication has 23 references indexed in Scilit:
- Cutaneous Metastases in Neonates: A ReviewPediatric Dermatology, 2011
- Detection of cytomegalovirus, parvovirus B19 and herpes simplex viruses in cases of intrauterine fetal death: Association with pathological findingsJournal of Medical Virology, 2008
- Biology of Langerhans Cells and Langerhans Cell HistiocytosisInternational review of cytology, 2006
- Differentiation of Langerhans cells in Langerhans cell histiocytosisBlood, 2001
- Congenital toxoplasmosis among premature infants with different clinical pictures in Saudi Arabia.1994
- Reactivity of Histiocytosis X Cells with Monoclonal AntibodiesPathology - Research and Practice, 1983
- Disseminated histiocytosis X.Analysis of prognostic factors based on a retrospective study of 50 casesCancer, 1979
- Histiocytosis X histogenetic arguments for a Langerhans cell origin.1973
- Cutaneous lesions of letterer-siwe disease.Electron microscopic studyCancer, 1967
- [Identification by electron microscope of particles of probable viral nature in the granulomatous connections of a pulmonary histiocytosis "X"].1965