Bone Status According to Neurofibromatosis Type 1 Phenotype: A Descriptive Study of 60 Women in France.
Sign Up to like & getrecommendations! Published in 2021 at "Calcified tissue international"
DOI: 10.1007/s00223-021-00807-6
Abstract: There is an increased risk of osteoporosis and an abnormal bone turn over in neurofibromatosis 1 (NF1). Our objective is to evaluate bone status in NF1 and to look for associations with cutaneous phenotype. We… read more here.
Keywords: phenotype; risk; bone status; bone ... See more keywords
Role of high-resolution ultrasound in detection and monitoring of peripheral nerve tumor burden in neurofibromatosis in children
Sign Up to like & getrecommendations! Published in 2020 at "Child's Nervous System"
DOI: 10.1007/s00381-020-04718-z
Abstract: Purpose Peripheral nerve sheath tumors are hallmark findings in neurofibromatosis types 1 and 2. With increasing size, they typically lead to neurological symptoms, and NF1 patients have a lifetime risk of 8–13% for developing malignant… read more here.
Keywords: high resolution; neurofibromatosis; nerve; peripheral nerve ... See more keywords
Anatomical changes in vertebra in dystrophic scoliosis due to neurofibromatosis and its implications on surgical safety.
Sign Up to like & getrecommendations! Published in 2021 at "Spine deformity"
DOI: 10.1007/s43390-021-00392-6
Abstract: STUDY DESIGN Detailed radiological analysis by multimodality imaging. OBJECTIVE To document anatomical changes jeopardizing instrumentation safety in Neurofibromatosis deformity correction surgeries. MATERIALS AND METHODS The apical and 3 adjacent vertebral segments above and below amounting… read more here.
Keywords: pedicle; safety; anatomical changes; neurofibromatosis ... See more keywords
Familial evaluation reveals a distinct genetic cause in a large Spanish family with neurofibromatosis 1 and hypertrophic cardiomyopathy.
Sign Up to like & getrecommendations! Published in 2020 at "Gene"
DOI: 10.1016/j.gene.2020.144658
Abstract: Neurofibromatosis 1 (NF1) is an autosomal dominant disorder characterized by café-au-lait spots, intertriginous freckling, and multiple neurofibromas. Classically, it has been described that hypertrophic cardiomyopathy (HCM) may be a cardiovascular manifestation of neurofibromatosis 1, although… read more here.
Keywords: large spanish; hypertrophic cardiomyopathy; spanish family; neurofibromatosis ... See more keywords
Co-Manifestations of Genital Neurofibromatosis in a Patient with Neurofibromatosis Type 1.
Sign Up to like & getrecommendations! Published in 2020 at "Urology"
DOI: 10.1016/j.urology.2020.03.030
Abstract: Genitourinary (GU) presentation of neurofibromatosis type 1 (NF-1) is rare, amongst which bladder involvement is the most common. Sporadic case reports do highlight infrequent external genitalia involvement in NF-1. We present a 21-year-old male with… read more here.
Keywords: manifestations genital; neurofibromatosis patient; genital neurofibromatosis; neurofibromatosis ... See more keywords
Myocardial infarction in a child with multiple coronary aneurysms and neurofibromatosis type 1
Sign Up to like & getrecommendations! Published in 2020 at "Cardiology in the Young"
DOI: 10.1017/s1047951120002413
Abstract: Abstract Vascular involvement in neurofibromatosis type 1 has been described, although coronary artery disease is rare. Data about clinical presentation and natural history are anecdotal. This is the first case of myocardial infarction due to… read more here.
Keywords: neurofibromatosis type; coronary aneurysms; neurofibromatosis; infarction child ... See more keywords
Improving detection level of somatic mosaicism in neurofibromatosis type 1
Sign Up to like & getrecommendations! Published in 2019 at "Annals of Oncology"
DOI: 10.1093/annonc/mdz238.083
Abstract: Abstract Background Neurofibromatosis type 1 (NF-1) is a tumor predisposition syndrome resulting from mutations in NF1 antioncogene. Differential diagnosis with genetic testing is essential in NF-1 diagnostics due to its clinical variability. Identifying of pathogenic… read more here.
Keywords: level somatic; somatic mosaicism; analysis; neurofibromatosis ... See more keywords
Synchronous cutaneous malignant peripheral nerve sheath tumor and jejunal gastrointestinal stromal tumor and submucosal angiomyolipoma in type 1 neurofibromatosis: A case report and literature review
Sign Up to like & getrecommendations! Published in 2023 at "Medicine"
DOI: 10.1097/md.0000000000032696
Abstract: Rationale: Type 1 neurofibromatosis (NF1) is one of the most prevalent genetic conditions. NF1 is characterized by cutaneous plexiform neurofibromas and café au lait skin pigmentation, and is inherited in an autosomal dominant trait with… read more here.
Keywords: malignant peripheral; peripheral nerve; case; type neurofibromatosis ... See more keywords
Correlation Between Ophthalmologic and Neuroradiologic Findings in Type 1 Neurofibromatosis
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Neuro-Ophthalmology"
DOI: 10.1097/wno.0000000000001241
Abstract: Background: Neurofibromatosis Type 1 (NF-1) is a genetic disease affecting the eye, and ocular findings such as Lisch nodules (LN) or optic pathway gliomas (OPGs) are a part of its diagnostic criteria. Recent imaging technologies… read more here.
Keywords: area; presence; presence opgs; thickness ... See more keywords
Myeloneuropathy due to multiple giant plexiform neurofibromas - an unusual presentation of neurofibromatosis type 1
Sign Up to like & getrecommendations! Published in 2017 at "BMJ Case Reports"
DOI: 10.1136/bcr-2017-220092
Abstract: A man aged 33 years presented with a 10-year progressive history of difficulty in walking with poor gripping of flip-flops on feet. It was further associated with foot drop and weakened handgrip. There was a… read more here.
Keywords: myeloneuropathy due; multiple giant; neurofibromatosis; neurofibromatosis type ... See more keywords
Large pituitary gland with an expanding lesion in the context of neurofibromatosis 1
Sign Up to like & getrecommendations! Published in 2017 at "BMJ Case Reports"
DOI: 10.1136/bcr-2017-222411
Abstract: A 29-year-old woman with neurofibromatosis 1 (NF1) due to NF1 gene deletion presented for evaluation of long-standing secondary amenorrhea. She noted increasing growth of her hands and feet, inability to fit her ring on her… read more here.
Keywords: gland expanding; large pituitary; expanding lesion; neurofibromatosis ... See more keywords