Results 31 to 40 of about 61,198,315 (136)

Co‐Occurrence of Agminated Lentigines, Café‐Au‐Lait Macules, and Vitiligo: A Case Report and Literature Review

Clinical Case Reports, Volume 14, Issue 5, May 2026.
ABSTRACT Lentigines, café‐au‐lait macules (CALMs), and vitiligo are pigmentary disorders that seldom occur together in a single individual. Their co‐occurrence may indicate underlying genetic syndromes requiring differential diagnosis. We report an 18‐year‐old male who developed CALMs at age 11, agminated lentigines at age 13, and vitiligo on the right
Xinxin Lei, Bo Xie
wiley   +1 more source

Pathogenic Neurofibromatosis type 1 gene variants in tumors of non‐NF1 patients and role of R1276

FEBS Open Bio, Volume 16, Issue 4, Page 803-813, April 2026.
Somatic variants of the neurofibromatosis type 1 (NF1) gene occur across neoplasms without clinical manifestation of the disease NF1. We identified emerging somatic pathogenic NF1 variants and hotspots, for example, at the arginine finger 1276. Those missense variants provide fundamental information about neurofibromin's role in cancer.
Mareike Selig, Swanhild Lohse, Sara Elahi, Nils Hartmann, Stefanie Deckert, Shutian Si, Alexander Desuki, Anja Harder   +7 more
wiley   +1 more source

Breathless and Beyond: Anterior Mediastinal Malignant Peripheral Nerve Sheath Tumor as a Rare Neurofibromatosis Type 1 Manifestation

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, Hamza Asif, Sadia Anjum, Zaira Shahid, Moosa Mubarika, Abdulsattar Anjum, Hassan Abdullah Shakeel, Rejina Chhetri, Muneeb Khawar   +8 more
wiley   +1 more source

Presentation and Outcomes of CNS Tumors Associated With Phakomatoses Syndromes From a Specialized Neuro‐Oncology Practice in India

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, Yamini Baviskar, Abhishek Chatterjee, Archya Dasgupta, Sridhar Epari, Arpita Sahu, Girish Chinnaswamy, Nandini Menon, Aliasgar Moiyadi, Tejpal Gupta, Jayant Sastri‐Goda   +10 more
wiley   +1 more source

Asymmetric Inferior Predilection of Lisch Nodules With Unilateral Ptosis

, 2020
Lisch nodules are melanocytic hamartomas that have been hypothesized to grow larger in the presence of sunlight. A 17-year-old boy with neurofibromatosis Type 1 and congenital ptosis in one eye presented and was found to have a distinct asymmetry of ...
Robert A Egan, Robert A. Egan
core  

Cerebrovascular Malformations Associated With Hereditary Hemorrhagic Telangiectasia and HHT‐Like Syndromes: A Comparative Overview

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

Reporte de familias con neurofibromatosis y otras enfermedades genéticas Reports of families suffering from neurofibromatosis and other genetic disorders

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, Deysi Licourt Otero, Ana Isabel Sánchez Álvarez de La Campa   +2 more
doaj  

Cervical Intranodal Schwannoma and Its Malignant Transformation: A Case Report With Literature Review

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, Zia Ullah Khan, Nazneen Liaqat, Syed Wajihullah Shah, Kainat Khan, Jibran Ikram   +5 more
wiley   +1 more source

Neurofibromatosis de von Recklinghausen en la niñez Von Recklinghausen's neurofibromatosis in the childhood

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, Gabriela Pereira Gómez   +1 more
doaj  

Healthcare professionals' perspectives on supporting individuals with NF1 during pregnancy and decision‐making processes

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, Debbie M. Smith, Ming Wai Wan, Emma Burkitt‐Wright, Shruti Garg   +4 more
wiley   +1 more source