Results 21 to 30 of about 1,042 (103)
Clinical Case Reports, Volume 14, Issue 3, March 2026.ABSTRACT Malignant peripheral nerve sheath tumors (MPNSTs) can rarely present as anterior mediastinal masses in patients with neurofibromatosis type 1 (NF1), causing respiratory symptoms and diagnostic challenges. Multidisciplinary evaluation, including biopsy and imaging, is essential for diagnosis, with surgical resection as the primary treatment ...
Muhammad Hassan Raza +8 more
wiley +1 more source
Cancer Medicine, Volume 15, Issue 2, February 2026.Encouraging survival is achieved in phakomatosis syndromes with conventional multimodality treatment (Surgery, RT, chemotherapy). There is an urgent need for easily administered systemic therapies which improve both quality and quantity of life. ABSTRACT Purpose Phakomatoses‐associated primary central nervous system (CNS) tumors are therapeutically ...
Anuradha Krishnan +10 more
wiley +1 more source
European Journal of Neurology, Volume 33, Issue 2, February 2026.Hereditary hemorrhagic telangiectasia (HHT) and several HHT‐like syndromes, including Wyburn–Mason, Cobb, Klippel–Trénaunay, Parkes Weber, neurofibromatosis type 1, PHACE(S), capillary malformation–AVM (CM‐AVM), Juvenile polyposis/HHT overlap, HHT type 5, PTEN hamartoma tumor syndrome, and blue rubber bleb nevus syndrome, share overlapping ...
Matteo Palermo, Carmelo Lucio Sturiale
wiley +1 more source
Clinical Case Reports, Volume 14, Issue 1, January 2026.ABSTRACT This case report highlights a rare malignant transformation of a cervical intranodal schwannoma in a 46‐year‐old man. The patient first came in with a slow‐growing, painless nodule in the right neck. Surgical excision was performed and histopathological examinations revealed a benign intranodal cellular schwannoma.
Shahab Hussain +5 more
wiley +1 more source
Revista de Ciencias Médicas de Pinar del Río, 2011 La neurofibromatosis tipo 1, es una enfermedad genética que primariamente afecta el desarrollo y crecimiento celular del sistema nervioso, clínicamente se caracteriza por máculas café con leche, neurofibromas, pecas en regiones no expuestas al sol ...
Miladys Orraca Castillo +2 more
doaj
Journal of Genetic Counseling, Volume 34, Issue 6, December 2025.Abstract Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic condition characterized by highly variable presentation, making reproductive decision‐making and pregnancy care particularly complex. While previous research has focused largely on clinical outcomes, little is known about how healthcare professionals (HCPs) provide care and ...
Gamze Kaplan +4 more
wiley +1 more source
Medisan, 2010 Se presenta el caso clínico de una niña argelina de 7 años de edad, con exoftalmos del ojo derecho de 3 años de evolución, que acudió a la consulta externa del Hospital Oftalmológico "Amistad Argelia-Cuba" de la Willaya de Djelfa en la República ...
Guillermo Manuel Vaillant Suárez +1 more
doaj
Solitary Neurofibroma of the Hypopharynx: A Case Report
Clinical Case Reports, Volume 14, Issue 6, June 2026.
Matin Ghazizadeh, Vahid Ghasem Amooeian
wiley +1 more source
JPGN Reports, Volume 6, Issue 3, Page 288-291, August 2025.Abstract Constitutional mismatch repair deficiency (CMMRD) is a rare hereditary cancer syndrome resulting from biallelic mutations in DNA mismatch repair (MMR) genes that lead to early‐onset cancers in children, including lymphoma and colorectal cancer (CRC).
Chloe J. Cohan +3 more
wiley +1 more source
Clinical Genetics, Volume 108, Issue 2, Page 194-198, August 2025.Variants in the DNM1 gene cause a progressive cone‐rod synaptic dysfunction, evidenced by the electroretinogram. This is due to retinal synaptic abnormality due to poor endocytic scission of synaptic buds at the synapse consequent on Dynamin‐1 abnormalities.
Oliver R. Marmoy +3 more
wiley +1 more source