Neurofibromatosis has been known to involve blood vessels throughout the body. Pulmonary involvement with interstitial fibrosing alveolitis has been described but no case of pulmonary vascular involvement has been reported to date. A 51 year old patient with cutaneous neurofibromatosis is described who presented with severe pulmonary hypertension and radiographic, scintigraphic, and angiographi...

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.

INTRODUCTION Neurofibromatosis type 1 is a common heritable neurocutaneous disorder. Neurofibromatosis type 1 may be associated with tumors of the central nervous system and pheochromocytoma. However, papillary thyroid carcinoma associated with neurofibromatosis type 1 is very rare. We present what is, to the best of our knowledge, the first case of papillary thyroid carcinoma to be detected in...

BACKGROUND Neurofibromatosis type 1 is an autosomal dominant neurocutaneous disorder in which the coexistence of autoimmune thyroiditis and thyroid gland tumours has been reported previously. AIMS To determine the thyroid function and autoimmune thyroid diseases in neurofibromatosis type 1 patients in order to identify the possible association between neurofibromatosis type 1 and thyroid dise...

Neurofibromatosis and fibrous dysplasia show the presence of café-au-lait spots, bone lesions, and endocrinopathies. There has been speculation whether neurofibromatosis and fibrous dysplasia are different manifestations of the same disease or if these conditions are in some way related. We provide a case of whether neurofibromatosis and fibrous dysplasia complicated by hyperparathyroidism and ...

Neuroendocrine tumors are rare tumors primarily located in the gastrointestinal tract. Goblet cell carcinoid is a rare subgroup of neuroendocrine tumors located in the appendix. Neurofibromatosis type 1 is an autosomal dominant disorder caused by a mutation in the NF1 gene. Patients with neurofibromatosis type 1 have an increased incidence of typical neuroendocrine tumors, but it is unknown if ...

BACKGROUND AND PURPOSE Neurofibromatosis type 1 is associated with increased risk for stroke, cerebral vasculopathy, and neurocognitive deficits, but underlying hemodynamic changes in asymptomatic children remain poorly understood. We hypothesized that children with neurofibromatosis type 1 have decreased cerebral blood flow. MATERIALS AND METHODS Arterial spin-labeled CBF was measured in 14 ...

Children with the neurofibromatosis type 1 (NF1) inherited tumor predisposition syndrome are at risk for the development of brain tumors. In addition, children with neurofibromatosis type 1 often exhibit low tone (hypotonia). In this study, the authors explored the hypothesis that hypotonia could be a clinical indicator of glioma in children with neurofibromatosis type 1. A total of 56 children...

OBJECTIVE Patients with Von Recklinghausen's disease (neurofibromatosis type 1) are at increased risk of developing various tumours. However, the coexistence of neurofibromatosis with small-bowel adenocarcinoma is exceedingly rare. We present an uncommon case of neurofibromatosis type 1, involving the small bowel in a 73-year-old man, who was admitted to our department with signs of acute abdom...

This prospective study of 96 individuals from 29 families with neurofibromatosis 2, 49 of whom were affected, confirms in an extended series the previously reported association between posterior subcapsular/capsular cataract and neurofibromatosis 2. Posterior subcapsular/capsular cataracts were found in 36 (80%) of the 45 affected individuals (four individuals were excluded from statistical ana...