Results 71 to 80 of about 38,208 (195)
Changes in multi‐gene cancer panels for children: A 4‐year retrospective review
Journal of Genetic Counseling, Volume 34, Issue 4, August 2025.Abstract The multi‐gene panel is the most utilized genetic test to evaluate for germline cancer predisposition syndromes. However, the rate of change of commercial multigene panels is not well understood, and its value as a standalone test has also not been investigated.
Elise G. Williams +4 more
wiley +1 more source
Bengal Journal of Otolaryngology and Head Neck Surgery, 2017 Introduction A case of Langerhans cell histiocytosis (LGH) involving extensive area of base of skull resulting in panhypopituitarism and diabetes insipidus (DI) is reported.
Anirban Ghosh +2 more
doaj +3 more sources
CASE OF GUILLAIN-BARRE´ SYNDROME IN A PATIENT WITH PULMONARY LANGERHANS CELL HYSTIOCYTOSIS
Архивъ внутренней медицины, 2019 Langerhans cell histiocytosis is a rare disease characterized by various clinical patterns: from isolated lung lesions to severe involvement of other organs.
E. V. Efremova +5 more
doaj +1 more source
Genetic landscape of adult Langerhans cell histiocytosis with lung involvement
European Respiratory Journal, 2019 The clinical significance of the BRAFV600E mutation in adult Langerhans cell histiocytosis (LCH), including pulmonary Langerhans cell histiocytosis (PLCH), is not well understood. Similarly, the spectrum of molecular alterations involved in adult LCH has
F. Jouenne +14 more
semanticscholar +1 more source
Late-Onset Langerhans Cell Histiocytosis Presenting with Seizures and Bilateral Temporal Involvement
Archives of Epilepsy, 2022 Langerhans cell histiocytosis is known as a rare childhood disease. In this case, we wanted to share our patient’s experience whose first symptom was an epileptic seizure, which attracted attention at an advanced age and revealed bilateral temporal lobe ...
Özge Öcek, Hasan Kuş, Pınar Ortan
doaj +1 more source
Alternative genetic mechanisms of BRAF activation in Langerhans cell histiocytosis.
Blood, 2016 Langerhans cell histiocytosis (LCH) is characterized by inflammatory lesions containing pathologic CD207+ dendritic cells with constitutively activated ERK.
Rikhia Chakraborty +15 more
semanticscholar +1 more source
Diffuse plane xanthomas as the first manifestation of multiple myeloma
JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
Eleni Koutra +5 more
wiley +1 more source
New somatic BRAF splicing mutation in Langerhans cell histiocytosis
Molecular Cancer, 2017 Langerhans cell histiocytosis (LCH) is an inflammatory myeloid neoplasia with constitutive activation of the MAPKinase RAS-RAF-MEK-ERK cell signaling pathway. We analyzed 9 LCH cases without BRAF V600 and MAP2K1 mutations by whole exome sequencing.
Sébastien Héritier +10 more
doaj +1 more source
Eruptive Xanthomata Manifesting in Tattoos
JEADV Clinical Practice, Volume 4, Issue 2, Page 522-524, June 2025.Capsule SummaryEruptive xanthomata are a rare, pruritic dermatosis for which an accurate diagnosis can prevent life‐threatening complications. A 29‐year‐old female presented for evaluation of a pruritic papular eruption of two weeks' duration. Examination revealed numerous papules within the boundaries of her long‐standing tattoos, with biopsy ...
Connor Stonesifer +4 more
wiley +1 more source
BMC Cancer, 2019 Langerhans cell histiocytosis (LCH) is a rare clonal disease, characterized by hyperproliferation of Langerhans cells. It may rarely involve the thyroid gland.
Mohammad A. Al Hamad +5 more
semanticscholar +1 more source