We report a rare association of Turner syndrome with both Neurofibromatosis type I and Tuberous Sclerosis. The patient had XOkaryotype with Turners stigmata and also had features of Neurofibromatosis 1 in the form of significant café-au-lait spots and Plexiform neurofibroma along with typical features of Tuberous Sclerosis complex. Pedigree analysis revealed that the elder brother of the proban...

Neurofibromatosis (NF) is a relatively common disorder characterized by cutaneous pigmented maculas, multiple neurofibromas and Lisch nodules (pigmented iris hamartomas). This disorder is retained being a neurocristopathy. Melanocytes are neural crest derivates too. Twenty-six patients with neurofibromatosis associated to cutaneous malignant melanoma have been reported till now, but data on ass...

BACKGROUND In Neurofibromatosis type 1, cerebral Unidentified Bright Objects are a well-known benign entity that has been extensively reported in the literature. In our case series, we wish to focus on a further possible location of such lesions, the spinal cord, which we have defined as medullary Unidentified Bright Objects. These have been, to our knowledge, scarcely described in previous wor...

Neurofibromatosis 1 is a multisystem disorder that primarily involves the skin and nervous system. Its population prevalence is 1 in 3500. The condition usually is recognized in early childhood, when cutaneous manifestations are apparent. Although neurofibromatosis 1 is associated with marked clinical variability, most affected children do well from the standpoint of their growth and developmen...

Neurofibromatosis type 1 (NF1) is an autosomal dominant condition with a worldwide incidence of approximately 1 per 2500 to 3000 individuals. Caused by a germ-line-inactivating mutation in the NF1 gene on chromosome 17, the disease is associated with increased morbidity and mortality. In the past several years, significant progress has been made in standardizing management of the major clinical...

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 (NF) is an inherited disorder characterized by the development of a wide variety of clinical manifestations, including characteristic "freckle-like" pigmentations (cafe au lait spots) that develop in infancy, followed by skin tumors that may vary widely in size, number, and distribution. In addition to skin tumors, bone, neurologic, and endocrine abnormalities are common. NF i...

Subject. A 27-year-old Hispanic male with clinical manifestation of neurofibromatosis type 1 developed chronic constipation and urination difficulty along with recently increased abdominal bloating and anorexia. He also noted 40 lbs weight loss over period of 1 year. Physical and radiographic examinations revealed a large mass in the right pelvic fossa.Results. The surgically removed tumor was ...

Neurofibromas are relatively common lesions of the nervous system, but only a few cases involving the pinna have been reported. Isolated neurofibroma of pinna without neurofibromatosis has not been reported in the literature so far. Neurofibromas may develop anywhere in the body, including cranial and peripheral nerves. The type of impairment associated with neurofibromas depends largely on the...