The Skeleton Abnormalities in Patients with Neurofibromatosis Type 1: Important Consequences of Abnormal Gene Function

Karwacki, Marek W.; Woźniak, Wojciech

doi:10.5772/31363

Cited by 1 publication

(1 citation statement)

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“…The multisystem anomalous phenotype of NF-1 patients results from pathogenic Nf1 gene variants and is inherited as an autosomal dominant trait [3,4,5,6]. In NF-1 patients, the mutated gene is not only responsible for oncogenesis, but especially for connective tissue anomalies (mostly bone dysplasia and joint hypermobility [7], mild cardiac anomalies characteristic of a RASopathy group of disorders and multiple aneurysms [8]) as well as behavioral and learning disability (attention de cit and hyperactivity syndromes, learning di culties and suchlike [9]). However, the endocrine and reproductive systems are involved in NF-1 pathogenesis as well.…”

Section: Introductionmentioning

confidence: 99%

Coordinated medical care program for neurofibromatosis type 1 children and adolescents in Poland influences the future of their affected parents: a single academic reference center experience and national program description.

Karwacki

2023

Preprint

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Neurofibromatosis type 1 (NF-1) is an inherited neoplastic syndrome. Adults affected by NF-1 in Poland are mostly unaware of the disease-related risk of cancer. During a year since the Ministry of Health settled a national coordinated medical care program for NF-1 children, 388 NF-1 patients up to 30 years of age were admitted to our Center and 187 had an affected parent (48.1% of familial cases). Only 18 NF-1 parents (9.6%) had any knowledge concerning the risk of malignancy, yet 22 (11.7%) were informed about their primary diagnosis for the first time simultaneously with their child. Asymptomatic tumors were revealed in 3 (1.6%) individuals who underwent preventive ultrasonography recommended during the first visit in the Center: abdominal pheochromocytoma in 2 (a 36-year-old man and a 33-year-old woman) and 1b breast cancer in 1 (a 32-year-old woman) case. Concluding, the early successful prevention of malignancy in professionally counselled NF-1 patients, proven currently, necessitates the urgent extension of prophylaxis and coordinated medical care program to the whole NF-1 population, not only in Poland, but worldwide. Precise knowledge concerning the disease-related medical risks should become a subject of the training of medical professionals regardless of their specialty.

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Section: Introductionmentioning

confidence: 99%

Coordinated medical care program for neurofibromatosis type 1 children and adolescents in Poland influences the future of their affected parents: a single academic reference center experience and national program description.

Karwacki

2023

Preprint

View full text Add to dashboard Cite

show abstract

The Skeleton Abnormalities in Patients with Neurofibromatosis Type 1: Important Consequences of Abnormal Gene Function

Cited by 1 publication

References 57 publications

Coordinated medical care program for neurofibromatosis type 1 children and adolescents in Poland influences the future of their affected parents: a single academic reference center experience and national program description.

Coordinated medical care program for neurofibromatosis type 1 children and adolescents in Poland influences the future of their affected parents: a single academic reference center experience and national program description.

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