Constipation in adults with neurofibromatosis type 1
Orphanet Journal of Rare Diseases, 2017 Background Neurofibromatosis type 1 (NF1) is an autosomal-dominant disease characterised by symptoms of the skin, eyes, nervous system and bones. A previous study indicated that constipation, large rectal diameters and prolonged colorectal transit times ...
Cecilie Ejerskov +4 more
doaj +1 more source
A literature review on surgery for cervical vagal schwannomas [PDF]
, 2015 Cervical vagal schwannoma is a benign, slow-growing mass, often asymptomatic, with a very low lifetime risk of malignant transformation in general population, but diagnosis is still a challenge.
A Peyvandi +31 more
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Reproducibility of cognitive endpoints in clinical trials: Lessons from neurofibromatosis type 1 [PDF]
, 2019 OBJECTIVE: Rapid developments in understanding the molecular mechanisms underlying cognitive deficits in neurodevelopmental disorders have increased expectations for targeted, mechanism-based treatments.
et al, +2 more
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A review of the role of ultrasound biomicroscopy in glaucoma associated with rare diseases of the anterior segment [PDF]
, 2016 Ultrasound biomicroscopy is a non-invasive imaging technique, which allows high-resolution evaluation of the anatomical features of the anterior segment of the eye regardless of optical media transparency.
Abdolrahimzadeh, B +5 more
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Global consensus on the management of melanin hyperpigmentation disorders
Journal of the European Academy of Dermatology and Venereology, EarlyView.A global Delphi consensus of 10 dermatology experts established evidence‐based recommendations for melanin hyperpigmentation disorders, providing unified classification, photoprotection guidance and treatment algorithms. This framework harmonizes terminology and supports individualized management across diverse skin types and health systems.
Thierry Passeron +9 more
wiley +1 more source
Oral Oncology ReportsNeurofibromatosis type 1 (NF-1) is an autosomal dominant inherited genodermatosis disease and tumor susceptibility syndrome with a prevalence of 1/6000–1/3000 reported in most epidemiological studies and 1/3333–1/2558 in live births.
Lini Deng +3 more
doaj +1 more source
Equatorial Staphyloma Associated with Neurofibromatosis Type 1
Case Reports in Ophthalmology, 2016 We report a case of a 38-year-old man who presented with a recently self-detected lump under his left eyebrow. Previous ophthalmological history was unremarkable except for unilateral high myopia (left eye) since childhood. The appearance of the left eye
Yoshiaki Shimada, Masayuki Horiguchi
doaj +1 more source
Pancreatic Neuroendocrine Tumor Leading to a Diagnosis of Multiple Endocrine Neoplasia Type 1
DEN Open, Volume 6, Issue 1, April 2026.ABSTRACT Pancreatic neuroendocrine neoplasms are rare but occasionally encountered. They are generally highly vascularized solid tumors, often round in shape with clear boundaries, defined contours, and a homogeneous internal structure. However, they can also present with atypical features, such as cystic degeneration, hemorrhage, calcification, and ...
Noriyuki Hirakawa +9 more
wiley +1 more source
Why a diagnosis of neurofibromatosis calls for the attention of a deaf educator [PDF]
, 2016 This paper will seek to describe neurofibromatosis (NF), the scope of its impact, how NF relates to hearing loss, and why someone with a teacher of the deaf’s expertise may have information to offer the intervention team for a child diagnosed with ...
López, Lydia Marie
core +1 more source
Usefulness of 18F-FDG-PET/CT in Evaluating a Brainstem Glioma in an Adult Patient with Neurofibromatosis Type 1 [PDF]
, 2013 Giorgio Treglia +3 more
openalex +1 more source