Neurofibromatosis type 1 is a hereditary disease that has multisystem character of organism damage, wide variability clinical manifestations, up to the almost complete absence typical symptoms. Phenotypic their expressiveness and heaviness can be varied even among members same family with identical mutations. One possible manifestations this pathology pheochromocytoma, development which associa...

Background and Aim: Neurofibromatosis-1(NF-1) is a common genetic condition in children. It is becoming increasingly recognized that in neurofibromatosis, there might be anomalous development of bone with or without any local anomaly of neuro-ectodermal basis. This review was conducted to highlight the different features of spinal disorders in this congenital disease. Methods and Materials: Di...

We report a very rare case of severe pulmonary arterial hypertension in a patient with neurofibromatosis type 1, and discuss the pathology, pathogenesis, current pulmonary hypertension classification system, and outcomes of pulmonary arterial hypertension in patients with neurofibromatosis type 1.

INTRODUCTION Blunt injury to the carotid and vertebral arteries is uncommon and potentially devastating. Neurofibromatosis type 1, or von Recklinghausen's disease is an autosomal dominant disorder affecting one in 3000 individuals. This genetic disease may affect many organs, including vessels. CASE PRESENTATION This report describes a very unusual case of multiple traumatic arterial injuries...

Neurofibromatosis type 1 and type 2, affecting both children and adults, often results in devastating complications. The rapid unravelling of the genetic underpinnings of these unique disorders has led to the development of novel therapies, especially molecular-targeted therapies. To facilitate clinical trial development, the Neurofibromatosis Clinical Trial Consortium (NFCTC) was established i...

Patients with neurofibromatosis type 1 develop both benign and malignant tumors at an increased frequency. Most of the malignant peripheral nerve sheath tumors (MPNSTs) are considered as high-grade sarcomas originating from tissues of mesenchymal origin. It is generally accepted that MPNSTs occur in about 2% to 5% of neurofibromatosis patients. In this paper, we present a 16-year-old male patie...

BACKGROUND Neurofibromatosis type 1 is an autosomal dominant condition that has a variety of clinical manifestations. Essential or secondary hypertension may be associated with neurofibromatosis. A rare finding is hypertension due to pheochromocytoma in patient with neurofibromatosis type 1. CASE REPORT We present a case with a 7-year medical history of hypertension which was poorly controlle...

3. Side, L, Taylor B, Cayouette M , et al. Homozygous inactivation of the NF1 gene in bone marrow cells from children with neurofibromatosis type 1 and malignant myeloid disorders. N Engl J Med 1997; 336: 1713-20. 4. Matsui I, Tanimura M, Kobayashi N, Sawada T, Nagahara N, Akatsuka J. Neurofibromatosis type 1 and childhood cancer. Cancer 1993; 72:2746-54. 5. Friedman JM, Birch PH. Type 1 neurof...

Neurofibromatosis-Noonan syndrome is a rare RASopathy syndrome. It occurs due to the mutation in NF1 gene and patients present with phenotypic features of both Neurofibromatosis Noonan Here case an early adolescent girl described who presented chief complaint primary amenorrhoea on evaluation was diagnosed be patient The index short-statured short broad neck. Physical examination revealed point...

PATIENT Male, 43 FINAL DIAGNOSIS: Neurofibromatosis Symptoms: Hip pain Medication: - Clinical Procedure: - Specialty: Orthopedics and Traumatology. OBJECTIVE Rare disease. BACKGROUND Neurofibromatosis type 1 is a disease known for orthopedic manifestations such as spine deformities, congenital pseudarthrosis of the tibia and other bony dysplasias; joint dislocations are rare. Joint arthriti...