Neurofibromatosis (von Recklinghausen's disease) is a neuroectodermal disorder characterized by pigmentary changes of the skin (café-au-lait spots), cutaneous and visceral tumors (neurofibromas) and systemic abnormalities. The involvement of gastrointestinal tract in neurofibromatosis is not common. The most common symptoms, refer able to lesions in the gut, are hematemesis, melena and abdomina...

Neurofibromatosis or von Recklinghausen's disease is the most common inherited syndrome predisposing to neoplasia. Carcinosarcoma is a rare malignant mixed tumor of the lung. Association of carcinosarcoma of lung with Neurofibromatosis-1 is not common. A 57-year-old man presented with history of fever, cough, hemoptysis, breathlessness, weight loss, chest pain. Multiple cutaneous neurofibromas ...

A 68-year-old woman with family history of fibromatous skin lesions was referred for the evaluation of hypertension. With detection of multiple fibromatous skin lesions and café au lait spots, a diagnosis of von Recklinghausen’s disease was made. Because she had not undergone regular physical examination, the history of hypertension was unknown. Findings of bilateral paravertebral calcified rou...

An 8-year-old girl was referred to our department because of generalized bowing of long bones (radii, ulnae, and femora) and significant bilateral and symmetrical posteromedial bowing of the tibiae and fibulae. The femora were laterally bowed whereas the tibiae and fibulae showed posteromedial bowing between the middle and distal thirds of the tibia with posterior cortical thickening effectivel...

RATIONALE Neurofibromatosis type 1 (NF-1) is an autosomal dominant disorder characterized by cafe au lait macules and neurofibromatosis. Renal artery aneurysms are relatively uncommon. Endovascular techniques are effective in treating renal aneurysms but successful cases are rarely reported in NF-1 adults. PATIENT CONCERNS The patient was one 23-year-old female presented with hypertension, mu...

Multiple tumours of peripheral nerves are often seen in patients with neurofibromatosis of type 1 or 2. Multiple schwannomas may occur without other manifestations of neurofibromatosis. We have reviewed 12 patients with multiple schwannomas arising from peripheral lesions who did not fulfil the criteria for either type of neurofibromatosis. Four had spinal and one an intracranial lesion in addi...

BACKGROUND McCune Albright syndrome is rare with an estimated prevalence of 1 in 100,000 to 1 in 1,000,000 persons. The classical clinical triad consists of fibrous dysplasia of the bone, café-au-lait skin spots and precocious puberty. However, in rare cases, there may be primary hypogonadism and amenorrhea. CASE PRESENTATION An eighteen-year-old female presented with amenorrhea. She had a sh...