Segmental neurofibromatosis is a rare disorder characterized by features of neurofibromatosis type 1 circumscribed to a particular body segment. This entity is considered to be the result of a somatic mosaicism and is still under-diagnosed. We report a case of segmental neurofibromatosis and give a brief and up-to-date overview of the disease.

Gliomas are the most common infiltrative neoplasms of the optic nerve and can present as two distinct growth patterns: intraneural glial proliferation and perineural arachnoidal gliomatosis (PAG). It has been suggested that perineural arachnoidal gliomatosis is seen almost exclusively in the setting of neurofibromatosis type 1 (NF1). We describe a child with perineural arachnoidal gliomatosis o...

Neurofibromatosis type 1 is a relatively common inherited disorder. Patients have a high predisposition to develop both benign and malignant tumours. Although many manifestations of neurofibromatosis type 1 affect the nervous system, other organs and tissues can also be affected. Because of the varying features and clinical heterogeneity inherent to this disorder, patients can present to differ...

Detailed clinical, ophthalmological, and molecular studies were performed on a multigeneration family in which there were many subjects with type 1 neurofibromatosis, a common autosomal dominant disorder. Affected family members displayed a wide range of clinical findings including, in two subjects, features seen in Noonan syndrome (triangular facies, downward slanting palpebral fissures, micro...

INTRODUCTION Neurofibromatosis type 1, also known as Von Recklinghausen's disease, is a rare neuroectodermal disease that mainly affects the skin and the nervous system. Patients with neurofibromatosis type 1 have a higher risk of developing various types of cancers, especially tumors derived from the embryogenic neural crest. However, its association with breast cancer has seldom been reported...

Neurofibromatosis type 1 is one of the most frequently inherited diseases affecting 1:3500 newborn. The diagnosis of Neurofibromatosis type 1 is not dilemmatic because of typical clinical features. The key feature of Neurofibromatosis type 1, neurofibromas, are complex tumours arising from peripheral nerve sheaths. Neurofibromas may be focal growths or can extend along the length of a nerve, in...

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 is a common neurogenetic disorder characterized by significant clinical variability. As such, numerous studies have focused on identifying clinical, radiographic, or molecular biomarkers that predict the occurrence or progression of specific clinical features in individuals with neurofibromatosis type 1. One of these clinical biomarkers, macrocephaly, has been proposed ...

INTRODUCTION Collateral muscular artery aneurysm is exceedingly rare. We report the first case of subscapular artery aneurysm in a patient with type 1 neurofibromatosis and ipsilateral chronic subclavian artery occlusion. CASE PRESENTATION A 74-year-old Caucasian woman with a medical history of type 1 neurofibromatosis, presented a sudden left pectoral mass, later diagnosed as a ruptured aneu...