Congenital cutaneous neurofibromas in neurofibromatosis type 1: Clinicopathological features in early infancy

2021 ◽  
Vol 19 (1) ◽  
pp. 73-80
Author(s):  
Francisco Javier García‐Martínez ◽  
Daniel Azorín ◽  
Anna Duat‐Rodríguez ◽  
Ángela Hernández‐Martín
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Clinicopathological Features ◽  
Early Infancy ◽  
Cutaneous Neurofibromas

scholarly journals Clinical assessment of the use of topical liquid diclofenac following laser microporation of cutaneous neurofibromas in individuals with neurofibromatosis type 1

Heliyon ◽  
2021 ◽  
Vol 7 (3) ◽  
pp. e06518
Author(s):  
Lisa Brauer Oliveira ◽  
Mauro Geller ◽  
Karin Soares Cunha ◽  
Alessandra Santos ◽  
Allan Bernacchi ◽  
...  
Keyword(s):  
Clinical Assessment ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Cutaneous Neurofibromas

Neurofibromatosis type 1 without cutaneous neurofibromas: a rare genotype-phenotype correlation?

2020 ◽  
Vol 30 (5) ◽  
pp. 608-609
Author(s):  
Tokimasa Hida ◽  
Masashi Idogawa ◽  
Aki Ishikawa ◽  
Miyako Mizukami ◽  
Junji Kato ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation ◽  
Cutaneous Neurofibromas

scholarly journals Determination of Vitamin D Levels in Patients With Neurofibromatosis Type 1 in the Pediatric Age Group

2020 ◽  
Vol 13 ◽  
pp. 2632010X2092893
Author(s):  
Alessandra Santos ◽  
Mauro Geller ◽  
Spyros Mezitis ◽  
Allan E Rubenstein ◽  
Lisa Oliveira ◽  
...  
Keyword(s):  
Vitamin D ◽  
Children And Adolescents ◽  
Neurofibromatosis Type 1 ◽  
Sun Exposure ◽  
Neurofibromatosis Type ◽  
Age Group ◽  
Plexiform Neurofibromas ◽  
Vitamin D Levels ◽  
Cutaneous Neurofibromas

Introduction: Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant genetic disorders. Some clinical manifestations are present at birth, while some develop during childhood, and others can occur at any age. Given the early age at which patients develop clinical features, diagnosis is often made during childhood. The most prevalent features of NF1 are café au lait spots, dermal and plexiform neurofibromas, and learning disability. A variety of skeletal problems may be seen in NF1, including scoliosis, short stature, and pseudoarthrosis. Reduced skeletal bone mass has been documented to be a common phenomenon in children and adults with NF1. Decreased serum 25-hydroxyvitamin D (vitamin D) levels have been noted in adults and children with NF1 and have been reported to be inversely correlated with the number of dermal neurofibromas in adults. However, the actual correlation of vitamin D level to bone density and dermal neurofibroma number in children with NF1 remains unclear. Objectives: The primary objective of this study was to evaluate vitamin D levels among children and adolescents with NF1. The secondary objective was to describe the levels of vitamin D among children and adolescents with NF1, to verify in which age group there is a higher frequency of vitamin D alterations, and to explore vitamin D level correlations between age, gender, sun exposure, number of neurofibromas, and number of plexiform neurofibromas. Methods: This was an observational, cross-sectional, hospital-based study. We obtained a convenience sample of individuals with confirmed diagnosis of NF1 from patients attending the Medical Genetics Service of the IPPMG-UFRJ and Santa Casa de Misericórdia of Rio de Janeiro over a 24-month period. We evaluated vitamin D levels in blood samples of patients with NF1 by a chemiluminescent immunoassay method, and we correlated the results with gender, age, number of neurofibromas, number of plexiform neurofibromas, and satisfactory sun exposure. Results: Of the 55 patients, 28 (50.9%) were female and 27 (49.1%) were male. Patient ages ranged from a minimum of 1.2 to a maximum of 19.6 years (mean age 10.95 years) and the median was 11.11 years. Median and mean body mass index (BMI; z score) were -0.09 (minimum value -1.63 and maximum of 4.62) and 0.16, respectively. The mean value of vitamin D was 30.82 ng/mL (±12.31) and the median was 29 ng/mL (minimum value of 10.40 ng/mL and maximum of 79.19 ng/mL). Conclusions: The levels of vitamin D did not differ according to gender, age group, or the presence or number of cutaneous neurofibromas. Among patients with adequate sun exposure, there was a higher incidence of sufficient serum vitamin D levels. Patients with cutaneous neurofibromas in the 0 to 11 age group had a greater tendency to vitamin D sufficiency in relation to patients aged 11 to 19 years.

scholarly journals Somatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patient

2014 ◽  
Vol 23 (6) ◽  
pp. 870-873 ◽  
Author(s):  
Denise Emmerich ◽  
Tomasz Zemojtel ◽  
Jochen Hecht ◽  
Peter Krawitz ◽  
Malte Spielmann ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Cutaneous Neurofibromas

scholarly journals Multiple Neurofibromas with Hypertrichosis in a Filipino Patient with Neurofibromatosis 1

2019 ◽  
Vol 53 (2) ◽  
Author(s):  
Leah Antoinette M. Caro-Chang ◽  
Maria Franchesca S. Quinio ◽  
Georgina C. Pastorfide
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
The Philippines ◽  
Neurofibromatosis 1 ◽  
First Report ◽  
Lisch Nodules ◽  
Cutaneous Neurofibromas

This is a case of an 11-year-old male who presented with multiple neurofibromas with hypertrichosis. Classic cutaneous neurofibromas, café-au-lait macules, axillary freckling, Lisch nodules, and scoliosis were also present fulfilling a diagnosis of Neurofibromatosis type 1. This is the first report of multiple neurofibromas with hypertrichosis in the Philippines. Hypertrichosis overlying a neurofibroma is rarely reported and the mechanism remains to be elucidated.

scholarly journals Effects of imatinib mesylate on cutaneous neurofibromas associated with neurofibromatosis type 1

2020 ◽  
Vol 8 (11) ◽  
pp. 2125-2128
Author(s):  
Ken‐ichi Yasuda ◽  
Yoshimasa Nobeyama ◽  
Takaoki Ishiji ◽  
Arihito Ota ◽  
Akihiko Asahina
Keyword(s):  
Imatinib Mesylate ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Cutaneous Neurofibromas
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