scholarly journals Bilateral and Symmetrical Anteromedial Bowing of the Lower Limbs in a Patient with Neurofibromatosis Type-I

2015 ◽  
Vol 2015 ◽  
pp. 1-4
Author(s):  
Ali Al Kaissi ◽  
Klaus Klaushofer ◽  
Franz Grill ◽  
Rudolf Ganger
Keyword(s):  
Early Life ◽  
Neurofibromatosis Type ◽  
Lower Limbs ◽  
Wedge Osteotomy ◽  
Type I ◽  
Neurofibromatosis Type I ◽  
Café Au Lait Spots ◽  
Nf1 Gene ◽  
Recklinghausen Disease ◽  
Von Recklinghausen

An 8-year-old girl was referred to our department because of generalized bowing of long bones (radii, ulnae, and femora) and significant bilateral and symmetrical posteromedial bowing of the tibiae and fibulae. The femora were laterally bowed whereas the tibiae and fibulae showed posteromedial bowing between the middle and distal thirds of the tibia with posterior cortical thickening effectively causing the development of bilateral congenital anterolateral bowing of the tibiae and fibulae. We referred to closing-wedge osteotomy of the left tibia along with fibular osteotomy in order to realign the deformity. Due to the delayed appearance of skin stigmata in her early life, the diagnosis of neurofibromatosis was ruled out. At the age of 9 years, café-au-lait spots and axillary freckling were apparent. Genetic tests confirmed von Recklinghausen disease (neurofibromatosis type-I (NF1)) (gene has been localised to 17q22). Interestingly, bilateral and symmetrical anteromedial bowing of the tibiae and fibulae has not been described in patients with NF-I.

NEUROFIBROMATOSIS TYPE I (VON RECKLINGHAUSEN DISEASE OF THE SKIN): CASE REPORT

2020 ◽  
Vol 129 (1) ◽  
pp. e85
Author(s):  
PRISCILA THAÍS RODRIGUES DE ABREU ◽  
SICÍLIA REZENDE OLIVEIRA ◽  
LENI VERÔNICA DE OLIVEIRA SILVA ◽  
ALINE FERNANDA CRUZ ◽  
RICARDO ALVES DE MESQUITA ◽  
...  
Keyword(s):  
Case Report ◽  
Neurofibromatosis Type ◽  
Type I ◽  
Neurofibromatosis Type I ◽  
Von Recklinghausen Disease ◽  
Recklinghausen Disease ◽  
Von Recklinghausen

scholarly journals Genetic analyses of the NF1 gene in Turkish neurofibromatosis type I patients and definition of three novel variants

2017 ◽  
Vol 20 (1) ◽  
pp. 13-20 ◽  
Author(s):  
SD Ulusal ◽  
H Gürkan ◽  
E Atlı ◽  
SA Özal ◽  
M Çiftdemir ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Genetic Diagnosis ◽  
Neurofibromatosis Type ◽  
Type I ◽  
Neurofibromatosis Type I ◽  
Next Generation ◽  
Loss Of Function ◽  
Pathogenic Variants ◽  
Nf1 Gene ◽  
Generation Sequencing

Abstract Neurofibromatosis Type I (NF1) is a multi systemic autosomal dominant neurocutaneous disorder predisposing patients to have benign and/or malignant lesions predominantly of the skin, nervous system and bone. Loss of function mutations or deletions of the NF1 gene is responsible for NF1 disease. Involvement of various pathogenic variants, the size of the gene and presence of pseudogenes makes it difficult to analyze. We aimed to report the results of 2 years of multiplex ligation-dependent probe amplification (MLPA) and next generation sequencing (NGS) for genetic diagnosis of NF1 applied at our genetic diagnosis center. The MLPA, semiconductor sequencing and Sanger sequencing were performed in genomic DNA samples from 24 unrelated patients and their affected family members referred to our center suspected of having NF1. In total, three novel and 12 known pathogenic variants and a whole gene deletion were determined. We suggest that next generation sequencing is a practical tool for genetic analysis of NF1. Deletion/duplication analysis with MLPA may also be helpful for patients clinically diagnosed to carry NF1 but do not have a detectable mutation in NGS.

Gastrointestinal Stromal Tumors of Neurofibromatosis Type I (von Recklinghausen??s Disease)

2005 ◽  
Vol 29 (6) ◽  
pp. 755-763 ◽  
Author(s):  
Yutaka Takazawa ◽  
Shinji Sakurai ◽  
Yuji Sakuma ◽  
Tatsuru Ikeda ◽  
Jun Yamaguchi ◽  
...  
Keyword(s):  
Gastrointestinal Stromal Tumors ◽  
Neurofibromatosis Type ◽  
Type I ◽  
Neurofibromatosis Type I ◽  
Stromal Tumors ◽  
Von Recklinghausen

scholarly journals Neurofibromatosis Type I (Von Recklinghausen Disease): A Case Report and Review of the Literature

2020 ◽  
Vol 47 (2) ◽  
pp. 43-46
Author(s):  
J. Pozharashka ◽  
L. Dourmishev ◽  
E. Bardarov ◽  
M. Balabanova ◽  
L. Miteva
Keyword(s):  
Genetic Disorder ◽  
Surgical Excision ◽  
Neurofibromatosis Type ◽  
Type I ◽  
Neurofibromatosis Type I ◽  
Multiple Organs ◽  
Laboratory Investigations ◽  
Von Recklinghausen ◽  
Typical Skin

AbstractNeurofibromatosis type I is an autosomal dominant genetic disorder with an incidence of about 1 in 3000 births. Apart from the typical skin involvement NF1 may affect multiple organs with ocular, neurological, skeletal and cardiovascular manifestations. We present a case of a 38-year-old man with multiple café-au-lait macules and hundreds of neurofibromas disseminated on the trunk and extremities dating from childhood. To establish the diagnosis and to exclude any complications we performed multiple examinations, including skin biopsy, laboratory investigations, ophthalmologic assessment, consultations with a neurologist, internist and orthopedist, etc. The treatment of cutaneous NF1 is mainly symptomatic. Surgical excision aims to achieve cosmetic results. Recently novel and perspective conservative therapies have been investigated. In order to ensure better outcome for the patients with NF1 long-term multi-disciplinary approach is advised.

The mutational spectrum of the NF1 gene in neurofibromatosis type I patients from UAE

2014 ◽  
Vol 30 (7) ◽  
pp. 1183-1189 ◽  
Author(s):  
Salma Ben-Salem ◽  
Aisha M. Al-Shamsi ◽  
Bassam R. Ali ◽  
Lihadh Al-Gazali
Keyword(s):  
Neurofibromatosis Type ◽  
Type I ◽  
Neurofibromatosis Type I ◽  
Mutational Spectrum ◽  
Nf1 Gene

scholarly journals Neurofibromatosis Type I and Stromal Tumor with a Multiple Digestive Localization

2021 ◽  
Vol 2021 ◽  
pp. 1-4
Author(s):  
Amina Chaka ◽  
Farouk Ennaceur ◽  
Mohamed Amine Tormen ◽  
Ibtissem Korbi ◽  
Faouzi Noomen ◽  
...  
Keyword(s):  
Genetic Disorder ◽  
Neurofibromatosis Type ◽  
Stromal Tumor ◽  
Type I ◽  
Neurofibromatosis Type I ◽  
Multisystem Disorder ◽  
Cell Tissue ◽  
Increased Risk ◽  
Recklinghausen Disease ◽  
Made In

Neurofibromatosis type I (NF1) is also known as von Recklinghausen disease. It is a genetic disorder that affects the growth and development of nerve cell tissue, which is characterized by a multisystem disorder and an increased risk for cancer. The incidence of gastroduodenal stromal tumor during Recklinghausen disease can reach 35% in autopsies and 5% in clinical cases. In our case, the diagnosis of neurofibromatosis type I was made in a middle-aged women initially diagnosed with a pancreaticoduodenal tumor.

scholarly journals Duodenal neuroendocrine tumour in a young patient with von Recklinghausen disease

2020 ◽  
Vol 2020 (3) ◽  
Author(s):  
Cláudia Leite ◽  
Júlio Constantino ◽  
Daniela Melo Pinto ◽  
José Carlos Pinto ◽  
Milene Sá ◽  
...  
Keyword(s):  
Neuroendocrine Tumour ◽  
Genetic Disorder ◽  
Neurofibromatosis Type ◽  
Suppressor Gene ◽  
Tumour Suppressor Gene ◽  
Von Recklinghausen Disease ◽  
Café Au Lait Spots ◽  
Increased Risk ◽  
Recklinghausen Disease ◽  
Von Recklinghausen

Abstract Von Recklinghausen disease (neurofibromatosis type 1—NFT1) is a genetic disorder with autosomal dominant inheritance pattern, caused by mutation of a tumour suppressor gene. Its main features include multiple cutaneous café-au-lait spots and neurofibromas. It is associated with an increased risk of developing neuroendocrine tumours, for instance, in the duodenum. The authors present a case of a 23-year-old male patient admitted to the emergency department due to persistent vomiting. Imaging and biopsy studies revealed an obstructive and large duodenal neuroendocrine tumour; hence the patient underwent a pancreaticoduodenectomy.

scholarly journals Exonic Deletions in the NF1 Gene in Patients with Neurofibromatosis Type I from the Lower Silesian Region of Poland

2014 ◽  
Vol 23 (4) ◽  
pp. 517-521 ◽  
Author(s):  
Izabela Łaczmańska ◽  
Małgorzata Szczepaniak ◽  
Aleksandra Jakubiak ◽  
Agnieszka Stembalska
Keyword(s):  
Neurofibromatosis Type ◽  
Type I ◽  
Neurofibromatosis Type I ◽  
Nf1 Gene
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