Disseminated non-Langerhans cell histiocytosis with an IRF2BP2-NTRK1 gene fusion identified by next-generation sequencin...
Published in JAAD case reports
Adult pulmonary Langerhans cell histiocytosis revealed by central diabetes insipidus: A case report and literature revie...
Published in Molecular and Clinical Oncology
Langerhans cell histiocytosis (LCH) is a rare systemic and heterogeneous disease secondary to proliferation and diffuse infiltration of immature CD1a-positive dendritic cells, also known as Langerhans cells. LCH affects predominantly paediatric patients and is rarely diagnosed in adulthood. Despite its worldwide prevalence, most reported cases are ...
Langerhans Cell Histiocytosis with Isolated Cutaneous Involvement Refractory to Polychemotherapy: A Case Report.
Published in The Journal of clinical and aesthetic dermatology
BACKGROUND: Langerhans cell histiocytosis (LCH) is a neoplasm of the monocyte-macrophage lineage, characterized by clonal proliferation and dissemination of cells that express CD1a+ and CD207. It is a disorder that predominates in childhood. Although the skin is the second most frequently affected organ (30-60%), isolated cutaneous involvement is r...
Dermoscopy of Congenital Langerhans Cell Histiocytosis
Published in Dermatology Practical & Conceptual
Hepatic Langerhans Cell Histiocytosis (LCH) Presenting as a Harbinger of Multisystem LCH
Published in Cureus
Langerhans cell histiocytosis (LCH) is a rare systemic disorder characterized by an infiltration of CD1a+/langerin+ histiocytes, commonly involving bone, skin, and lymph nodes in children. Hepatic involvement is rarely observed in multisystem LCH. We describe an exceptional case of hepatic LCH in an adult preceding the diagnosis of multisystem LCH,...
A neonate with Langerhans cell histiocytosis presenting as blueberry muffin rash: Case report and review of the literatu...
Published in SAGE Open Medical Case Reports
In our case report, we discuss a 1-day-old boy presenting with blueberry muffin syndrome diagnosed with Langerhans cell histiocytosis. The diagnosis complicated by an initial difficult-to-interpret biopsy showing only a hint of perifollicular CD1a-positive cells; however, given our team’s strong clinical suspicion of Langerhans cell histiocytosis, ...
Dual BRAF/MEK blockade restores CNS responses in BRAF-mutant Erdheim–Chester disease patients following BRAF inhibitor m...
...Published in Neuro-oncology Advances
Background Erdheim–Chester disease (ECD), a rare inflammatory myeloid neoplasm, is known to be fundamentally reliant on the constitutive activation of the MAPK signaling pathway in the majority of patients. Consequently, inhibition of the V600E-mutant BRAF kinase has proven to be a safe and efficacious long-term therapeutic strategy for BRAF -mutan...
Multimodal Chorioretinal Imaging in Erdheim-Chester Disease
...Published in Clinical Ophthalmology (Auckland, N.Z.)
Purpose To analyze the subclinical intraocular involvement using multimodal imaging approach in patients affected by Erdheim-Chester disease (ECD) without ocular symptoms. Patients and Methods In this prospective cross-sectional study, 18 eyes of 9 consecutive patients with ECD were enrolled. Each patient underwent comprehensive ocular examination ...
TLR7 Agonism Accelerates Disease and Causes a Fatal Myeloproliferative Disorder in NZM 2410 Lupus Mice
Published in Frontiers in Immunology
Murine models of lupus, both spontaneous and inducible, are valuable instruments to study SLE pathogenesis. Accelerants such as Type I IFN are often used to trigger earlier disease onset. We used a topical TLR7 agonist, previously reported to induce lupus-like disease in WT mice within weeks, to validate this data in C57BL/6j mice, and to test TLR7...
Haemophagocytic lymphohistiocytosis in adult critical care
Published in Journal of the Intensive Care Society
Haemophagocytic lymphohistiocytosis (HLH) is a syndrome of severe immune dysregulation, characterised by extreme inflammation, fever, cytopaenias and organ dysfunction. HLH can be triggered by conditions such as infection, autoimmune disease and malignancy, among others. Both a familial and a secondary form have been described, the latter being inc...
