High Grade Dysplastic Rectal Adenoma in a Young Patient With Café-Au-Lait Spots: A Case Report. [PDF]
Clin Case RepABSTRACT Colorectal cancer screening guidelines typically focus on familial history and age‐related risk factors, yet Café‐au‐lait macules could serve as early indicators for tailored surveillance protocols. This case underscores the importance of considering extracolonic manifestations in young patients presenting with colorectal symptoms.
Hamdan A +4 more
europepmc +2 more sources
Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848 [PDF]
, 2018 Neurofibromatosis type 1 (NF1), a common genetic disorder with a birth incidence of 1:2,000–3,000, is characterized by a highly variable clinical presentation.
Balasubramanian, M. (Meena) +74 more
core +4 more sources
Diffuse large B cell lymphoma presenting as Horner's syndrome in a patient diagnosed with neurofibromatosis type 1: a case report and review of the literature [PDF]
, 2012 Introduction Horner's syndrome has a variety of etiologies ranging from benign to serious life-threatening conditions and has been infrequently reported as a presenting symptom of patients with lymphoid neoplasms.
Saoraya Lueangarun, Chirayu U Auewarakul
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Four-year follow-up study in a NF1 Boy with a focal pontine hamartoma [PDF]
, 2013 Neurofibromatosis is a collective name for a group of genetic conditions in which benign tumours affect the nervous system. Type 1 is caused by a genetic mutation in the NF1 gene (OMIM 613113) and symptoms can vary dramatically between individuals, even ...
BOZZAO, ALESSANDRO +6 more
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Neurofibromatose type 1 : à propos d´un cas
PAMJ Clinical Medicine, 2020 Nous rapportons le cas d´un patient de 30 ans , qui a comme antécédent une consanguinité de 1er degré, qui consulte pour une baisse de l´acuité visuelle progressive aux deux yeux.
Alae El Bouaychi, Fatiha Boudguigue
doaj +1 more source
Clinically aggressive central giant cell granulomas in two patients with neurofibromatosis 1 [PDF]
, 2006 Background Neurofibromatosis 1 (NF1) is an autosomal dominantly inherited disorder caused by a spectrum of mutations affecting the Nf1 gene. Affected patients develop benign and malignant tumors at an increased frequency.
Edwards, Paul C. +5 more
core +1 more source
The Pan African Medical Journal, 2013 La neurofibromatose de type 1(NF1) ou maladie de Von Recklinghausen est la plus fréquente des phacomatoses. C'est une affection autosomique dominante, où les mutations de novo concernent 50 % des patients.
Fadwa El Amrani, Nadia Ismaili
doaj +1 more source
Genetically engineered minipigs model the major clinical features of human neurofibromatosis type 1. [PDF]
, 2018 Neurofibromatosis Type 1 (NF1) is a genetic disease caused by mutations in Neurofibromin 1 (NF1). NF1 patients present with a variety of clinical manifestations and are predisposed to cancer development.
Carlson, Daniel F +21 more
core +2 more sources
Small Intestinal Neurofibroma With Atypical 17q11.2 Microdeletions: A Rare Cause of Abdominal Distension. [PDF]
JGH OpenABSTRACT Background Neurofibromatosis Type 1 (NF1) is a rare autosomal dominant disorder caused by mutations or deletions in the NF1 gene, with approximately 5% to 11% of cases specifically attributed to the 17q11.2 microdeletion. While cutaneous manifestations are common, gastrointestinal involvement occurs in 10%‐25% of cases, with symptomatic ...
Wang Y, He C, Ma D, Xu L.
europepmc +2 more sources
Hypertrophic scars after therapy with CO2 laser for treatment of multiple cutaneous neurofibromas [PDF]
, 2002 BACKGROUND. CO2 laser surgery is a treatment modality for cutaneous neurofibromas. OBJECTIVE. Hypertrophic and atrophic scars can result from treatment with CO2 laser surgery.
Neumann, H.A.M. (Martino) +2 more
core +3 more sources