Neurofibromatoses: part 1 ? diagnosis and differential diagnosis

Rodrigues, Luiz Oswaldo Carneiro; Batista, Pollyanna Barros; Goloni-Bertollo, Eny Maria; Souza-Costa, Danielle de; Eliam, Lucas; Eliam, Miguel; Cunha, Karin Soares Gonçalves; Darrigo, Luiz Guilherme; Filho, José Pissolato; Geller, Mauro; Gianordoli-Nascimento, Ingrid Faria; Madeira, Luciana Gonçalves; Malloy-Diniz, Leandro Fernandes; Mendes, Hérika Martins; Miranda, Débora Marques de; Pavarino, Érika Cristina; Baptista-Pereira, Luciana; Rezende, Nilton Alves de; Rodrigues, Luciano Brito; Silva, Carla Menezes da; Souza, Juliana Ferreira de; Souza, Márcio Leandro Ribeiro de; Stangherlin, Aline; Valadares, Eugênia Ribeiro; Vidigal, Paula Vieira Teixeira

doi:10.1590/0004-282x20130241

Cited by 35 publications

(26 citation statements)

References 17 publications

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“…1 The diagnostic criteria for NF1 are almost exclusively clinical, and were established by the National Institutes of Health (NIH) Consensus. 2 The most common clinical features of NF1 are café au lait spots, dermal neurofibromas, plexiform neurofibromas, axillary and/or inguinal freckling, Lisch nodules, and bone dysplasia.…”

Section: Introductionmentioning

confidence: 99%

Body composition in adults with neurofibromatosis type 1

Souza

Jansen

Martins

et al. 2016

Rev. Assoc. Med. Bras.

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SUMMARY Objective To evaluate the body composition and nutritional status of neurofibromatosis type 1 (NF1) adult patients. Method A cross-sectional study of 60 NF1 patients (29 men, 31 women) aged ≥ 18 years who were evaluated from September 2012 to September 2013 in a Neurofibromatosis Outpatient Reference Center. Patients underwent nutritional assessment including measurements of weight, stature, waist circumference (WC), upper-arm circumference (UAC), and skinfolds (biceps, triceps, subscapular, suprailiac). Body mass index (BMI), upper-arm total area (UATA), upper-arm muscle area (UAMA), upper-arm fat area (UAFA), body fat percentage (BFP), fat mass, fat-free mass, fat mass index, and fat-free mass index were also calculated. Results The mean age of the study population was 34.48±10.33 years. The prevalence of short stature was 28.3%. Low weight was present in 10% of the sample and 31.7% of patients had a BMI ≥ 25 kg/m2. Reduced UAMA (<5th percentile) was present in 43.3% and no difference was found in UAFA between the sexes. The BFP was considered high in 30% and 17 (28.3%) patients had a WC above the World Health Organization cutoffs. Conclusion In this study, NF1 patients had a high prevalence of underweight, short stature, and reduced UAMA, with no difference between the sexes. Reduced UAMA was more prevalent in underweight patients; however, this was also observed in the normal and overweight patients. Further studies should investigate the distribution of body tissues in NF1 patients, including differences between men and women, and the influence of diet and nutrition on clinical features in NF1.

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Section: Introductionmentioning

confidence: 99%

Body composition in adults with neurofibromatosis type 1

Souza

Jansen

Martins

et al. 2016

Rev. Assoc. Med. Bras.

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“…These include the presence of bilateral vestibular schwannomas (VS), as was the case in this patient [1][2][3][4]. Her initial manifestation was with bilateral proptosis, possibly due to intraorbital involvement of the III cranial nerves with schwannomata as they are prone to do [2], or else due to meningiomas.…”

Section: Discussionmentioning

confidence: 67%

“…We are not aware of any reports in the literature of the occurrence of hemangioblastomas in the setting of a case of NF2. The genetic basis for these conditions has been well described [1][2][3][4]. This patient presents with a hemangioblastoma in addition to the classic picture of NF2 with bilateral vestibular schwannomas and multiple other tumours around the brain.…”

Section: Discussionmentioning

confidence: 85%

CAR-T Cells: The Next Generation Cancer Therapy

Vadali¹

2018

Arch Cancer Res

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Neurofibromatosis is a condition that can occur in a number of forms, the commonest of which are types 1 and 2. As a group, they fall under the phacomatoses family of conditions, otherwise known as neurocutaneous syndromes, owing to the fact that they concurrently have disorders of the nervous system and the integument, which organs share a common ectodermal origin. Other examples include Schwannomatosis and Von Hippel Lindau syndromes. We describe a case of a young girl who presented with features of NF2 and was discovered to have a cerebellar hemangioblastoma at the same time. We are not aware of this association being described in the literature.

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“…Neurofibromatosis type 1 is the most common human monogenetic disease (1:3000, affecting nearly 80,000 Brazilian people) and it exhibits marked phenotype expression variability and an unpredictable course 1,2,3 . Recently, we described decreased muscular strength 4 and lower aerobic capacity in NF1 individuals…”

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confidence: 99%

Autonomic thermoregulatory dysfunction in neurofibromatosis type 1

Madeira

Passos

Souza

et al. 2016

Arq. Neuro-Psiquiatr.

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Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder, caused by mutations in a single gene (OMIM #162200, neurofibromin, 17 q11.2) affecting the development-maintenance-repair of neural and cutaneous tissues. Neurofibromatosis type 1 is the most common human monogenetic disease (1:3000, affecting nearly 80,000 Brazilian people) and it exhibits marked phenotype expression variability and an unpredictable course 1,2,3 . Recently, we described decreased muscular strength 4 and lower aerobic capacity in NF1 individuals 5, and both features are related to life expectancy, and quality of life. Possible mechanisms involving NF1-reduced muscle strength and aerobic capacity could be neurological abnormalities related to the neurofibromin deficiency, such as poorer motor coordination/activation, as well as lower levels of daily physical activities and motivation for exercising. Both neural disorder and reduced aerobic capacity could adversely affect thermoregulatory capacity, leading to decreased exercise performance in hot environments and heat intolerance with higher risk for heat-related injuries 6 . Despite increases in environmental temperature and/or exercise body metabolism, human internal temperature must be maintained within a small physiological range through heat dissipation, to prevent tissue ABSTRACTObjective: Neurofibromatosis type 1 (NF1) causes neural and cutaneous disorders and reduced exercise capacity. Exercise/heat exposure increasing internal temperature must be compensated by eccrine sweat function and warmed skin vasodilation. We suspected NF1 could adversely affect eccrine sweat function and/or vascular thermoregulatory responses (VTR). Methods: The eccrine sweat function and VTR of 25 NF1 volunteers (14 males, 11 females; 16-57 years old) were compared with 23 non-NF1 controls matched by sex, age, height and weight (CG). Sweating was induced by 1) pilocarpine 1% iontophoresis (PILO); and 2) by passive heating (HEAT) via the lower third of the legs being immersed in 42°C water for one hour. Previously established eccrine sweat function and VTR protocols were used. Results: The NF1 group showed: a) lower sweat rate than the CG group during PILO; b) a smaller diastolic pressure decrease; and c) higher tympanic temperatures than controls during HEAT (p < 0.05). Conclusion: Reduced sweating and vascular thermoregulatory responses suggest autonomic dysfunction in NF1 individuals.Keywords: neurofibromatosis 1; sweating; primary dysautonomias; body temperature regulation. RESUMOObjetivo: Neurofibromatose do tipo 1 (NF1) causa problemas neurais e cutâneos e diminuição da capacidade física. O aumento da temperatura interna durante exercício e exposição ao calor precisa ser compensada pela função sudorípara écrina (FSE) e aquecimento cutâneo por vasodilatação (RVT). Suspeitou-se clinicamente que a NF1 poderia prejudicar a FSE e a RVT. Métodos: A FSE e RVT de 25 voluntários com NF1 (14 homens, 11 mulheres; 16-57 anos) e de 23 sem-NF1, emparelhados por sexo, idade, estatura e peso corporal, foram ...

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Neurofibromatoses: part 1 ? diagnosis and differential diagnosis

Cited by 35 publications

References 17 publications

Body composition in adults with neurofibromatosis type 1

Body composition in adults with neurofibromatosis type 1

CAR-T Cells: The Next Generation Cancer Therapy

Autonomic thermoregulatory dysfunction in neurofibromatosis type 1

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