Results 1 to 10 of about 34,976 (197)

A case of neurofibromatosis type 1 with neurofibromatosis type 1-related and neurofibromatosis type 1-unrelated tumors: a case report. [PDF]

J Med Case Rep
Background Neurofibromatosis type 1 is an autosomal dominantly inherited disorder caused by pathogenic variants in the neurofibromatosis type 1 gene, resulting in a predisposition to multiple tumors.
Hartung TI, Karimi Q, Kluwe L, Farschtschi SC.   +3 more
europepmc   +5 more sources

Seizures in children with neurofibromatosis type 1: is neurofibromatosis type 1 enough? [PDF]

Italian Journal of Pediatrics, 2018
Background Neurofibromatosis type 1 (NF1) is related to a generally increased prevalence of seizures. The mechanism underlying the increased predisposition to seizures has not been fully elucidated. The aim of the study was to evaluate the role of NF1 in
Claudia Santoro, Pia Bernardo, Antonietta Coppola, Umberto Pugliese, Mario Cirillo, Teresa Giugliano, Giulio Piluso, Giuseppe Cinalli, Salvatore Striano, Carmela Bravaccio, Silverio Perrotta   +10 more
doaj   +5 more sources

Guidelines for the Multidisciplinary Diagnosis and Treatment of Neurofibromatosis Type 1(2023 Version)

罕见病研究, 2023
Neurofibromatosis type 1(NF1) is an autosomal dominant hereditary neoplastic disease caused by mutations in the NF1 gene. Features of disorder typically appear in early childhood.
Multidisciplinary Diagnosis and Treatment Collaboration Group for Neurofibromatosis Type 1 of China Alliance for Rare Diseases
doaj   +1 more source

Adrenal incidentaloma in neurofibromatosis type 1 [PDF]

Srpski Arhiv za Celokupno Lekarstvo, 2008
INTRODUCTION Neurofibromatosis type 1 is one of the most common genetically transmitted diseases with a high index of spontaneous mutations and extremely varied and unpredictable clinical manifestations.
Tančić-Gajić Milina, Vujović Svetlana, Tatić Svetislav, Stojanović Miloš, Ivović Miomira, Drezgić Milka   +5 more
doaj   +1 more source

Neurofibromatosis 1 French national guidelines based on an extensive literature review since 1966

Orphanet Journal of Rare Diseases, 2020
Neurofibromatosis type 1 is a relatively common genetic disease, with a prevalence ranging between 1/3000 and 1/6000 people worldwide. The disease affects multiple systems with cutaneous, neurologic, and orthopedic as major manifestations which lead to ...
Christina Bergqvist, Amandine Servy, Laurence Valeyrie-Allanore, Salah Ferkal, Patrick Combemale, Pierre Wolkenstein, NF France Network   +6 more
doaj   +1 more source

A case of solitary digital glomus tumor associated with neurofibromatosis type 1

SAGE Open Medical Case Reports, 2023
An association between glomus tumor and neurofibromatosis type 1 has been reported. It is characterized by multiple tumors and young age at onset. The early diagnosis of neurofibromatosis type 1 is important because it is associated with a high rate of ...
Koichiro Yanai, Tsuyoshi Tajika, Takuro Kuboi, Yuhei Hatori, Takahiro Umeyama, Shinsuke Arisawa, Ayaka Katayama, Takaaki Sano, Hirotaka Chikuda   +8 more
doaj   +1 more source

Clinical Masks of Neurofibromatosis Type 1

Архивъ внутренней медицины, 2022
Neurofibromatosis type 1 is the most common autosomal dominant tumor syndrome. The prevalence of the disease is 1 in 3000 people. Neurofibromatosis type 1 is characterized by the gradual appearance of signs of the disease and pronounced clinical ...
R. N. Mustafin
doaj   +1 more source

Ocular gamut of neurofibromatosis type 1

Kerala Journal of Ophthalmology, 2023
Background: Neurofibromatosis type 1 (NF1) is a multi-system autosomal dominant disorder affecting 1 in 3000 individuals. The diagnostic criteria of NF1 includes ocular manifestations.
Prathibha Shanthaveerappa, Nithisha Tegginamatha, Neethu Narayan Rao, Suyog Ajjampur Suryaprakash   +3 more
doaj   +1 more source

Bone Manifestations of Neurofibromatosis Type 1

Global Pediatric Health, 2022
Von Recklinghausen disease is the most common phacomatosis. It can affect many systems, including the bone system. Through these 2 cases, we illustrate the bone manifestations of this disease.
Ibrahima Dokal Diallo, Zaynab Iraqi Houssaini, Mehdi Tantaoui, Wend-Yam Mohamed Traoré, Behyamet Onka, Siham El Haddad, Latifa Chat, Nazik Allali   +7 more
doaj   +1 more source

Statins, bone, and neurofibromatosis type 1

BMC Medicine, 2008
Neurofibromatosis type 1 (NF1) is a dominantly inherited multi-system disorder. Major features include pigmentary abnormalities, benign tumors of the nerve sheath (neurofibromas), malignant tumors, learning disabilities, and skeletal dysplasia.
Korf Bruce R
doaj   +1 more source