Type 1 neurofibromatosis (NF1), also known as von Reck-linghausen's disease, is a common autosomal dominant neurocutaneous disorder. Persons with NF1 have an increased risk of malignancy compared with the general population, but there are few reports of neurofibromatosis combined with breast cancer. We report on three cases of breast cancer combined with NF1.
Breast ; Breast Neoplasms ; Female ; Humans ; Neurocutaneous Syndromes ; Neurofibromatoses ; Neurofibromatosis 1

Neurofibromatosis type 1 (NF-1) is an autosomal dominant neurocutaneous syndrome caused by mutations in the neurofibromin gene. NF-1 patients have a high risk of tumors, and optic glioma is the most commonly observed central nervous system tumor in these patients. However, glioblastoma is extremely rare in pediatric NF-1 patients. Here we report the discovery of a novel heterozygous c.6766_6767insAA (p.Ser2256Lysfs*4), pathogenic mutation in the neurofibromin gene in a 17-year-old boy with NF-1-associated glioblastoma.
Adolescent ; Central Nervous System ; Glioblastoma* ; Humans ; Male ; Neurocutaneous Syndromes ; Neurofibromatoses* ; Neurofibromatosis 1 ; Neurofibromin 1* ; Optic Nerve Glioma

Neurofibromatosis(NF) is an autosomal dominant disorder, probably of neural crest origin that affects all three germinal layers. It is a group of heterogeneous multisystemic neurocutaneous disorders involving both neuroectodermal and mesenchymal derivatives. Type 1(von Recklinghausen disease) is the most common neurocutaneous disorder among the eight subtypes. Previous reports showed various involvements in the renal organ. Renovascular hypertension is the most common major manifestation of renal involvement in this disease. However, we experienced a case of ectopic kidney concurrent with neurofibromatosis type 1. The diagnosis of neurofibromatosis had been made by typical skin manifestation on physical examination, and ectopic kidney was discovered accidentally during routine abdominal sonography. The etiological basis of this association is not clear. We report a rare case of coexisting neurofibromatosis and ectopic kidney in a 7-year-old girl with a brief review.
Child ; Diagnosis ; Female ; Humans ; Hypertension, Renovascular ; Kidney* ; Neural Crest ; Neural Plate ; Neurocutaneous Syndromes ; Neurofibromatoses* ; Neurofibromatosis 1 ; Physical Examination ; Skin Manifestations

Neurofibromatosis type 1 (NF1) is a common neurocutaneous syndrome that presents with multiple café-au-lait spots, skinfold freckling, dermatofibromas, neurofibromas, and Lisch nodules. Mutations of the NF1 gene, encoding the protein neurofibromin, have been identified as the cause of this disease. NF1 can also present with precocious puberty and be associated with optic pathway tumors. Hypothalamic hamartoma as the cause of precocious puberty in patients with NF1 has been rarely described in the literature. Here, we report the findings for a patient with NF1 and precocious puberty associated with a hypothalamic hamartoma who had a newly discovered 14-bp deletion mutation in exon 5 of NF1. To our knowledge, this is the first time this combination is reported in the literature.
Adolescent ; Child* ; Exons ; Genes, Neurofibromatosis 1 ; Hamartoma* ; Histiocytoma, Benign Fibrous ; Humans ; Hypothalamic Diseases ; Neurocutaneous Syndromes ; Neurofibroma ; Neurofibromatoses* ; Neurofibromatosis 1* ; Neurofibromin 1 ; Puberty ; Puberty, Precocious* ; Sequence Deletion

Aneurysm of the internal carotid artery is a rare disease and is known to be associated with congenital arterial anomalies such as neurofibromatosis type I (NF-I). NF-I is an autosomal dominant neurocutaneous disorder characterized by a variety of manifestations that involve the central and peripheral nervous systems, skin, vascular system, and skeleton. In particular, the involvement of vascular abnormalities in NF-I is well known. Any vessel may be affected by this condition, although the renal artery is most frequently involved. The vascular abnormality can be occlusive or an aneurysmal degenerative change. Therefore, symptomatic presentations might assume an indolent pathophysiologic course such as hypertension, or manifest as a catastrophic event such as arterial rupture that could result in sudden death. We report a rare autopsy case of an aneurysmal rupture of the internal carotid artery in a woman with suspected NF-I, who collapsed in her home.
Aneurysm ; Autopsy ; Carotid Artery, Internal ; Death, Sudden ; Female ; Glycosaminoglycans ; Humans ; Hypertension ; Neurocutaneous Syndromes ; Neurofibromatoses ; Neurofibromatosis 1 ; Peripheral Nervous System ; Rare Diseases ; Renal Artery ; Rupture ; Skeleton ; Skin

Neurofibromatosis type I(NF-1) is an autosomal dominant neurocutaneous syndrome characterized by cafe-au-lait spots, optic glioma, skeletal dysplasia, and iris hamartoma. Mesenteric plexiform neurofibromas(PNF) have been rarely reported in NF-1, especially in children. We report a case of radiologically suspected mesenteric PNF along the celiac axis in an 8-year-old boy who had cafe-au-lait spots and a family history of maternal NF-1.
Axis, Cervical Vertebra ; Cafe-au-Lait Spots ; Child ; Hamartoma ; Humans ; Iris ; Neurocutaneous Syndromes ; Neurofibroma ; Neurofibroma, Plexiform ; Neurofibromatoses ; Neurofibromatosis 1 ; Optic Nerve Glioma

Neurofibromatosis type I is one of the most common neurocutaneous syndrome which is inherited by autosomal dominant manner, characterized by cafe au-lait spots, axillary freckling, Lisch nodules in iris, multiple neurofibromas and bone involvement with pseudoarthrosis, bowing of the long bone. And Moyamoya disease is a specific disease characterized by progressive idiopathic stenosis and eventual occlusion of the large cerebral arteries at the circle of Willis. In response to the stenosis, an abnormal network of small collateral vessels develops, creating the "puff of smoke". Intracranial lesions associated with Neurofibromatosis type I include optic glioma, sphenoid wing dysplasia, "unidentified bright objects" and cerebrovascular lesions such as Moyamoya syndrome and aneurysm. Moyamoya syndrome is an uncommon association of neurofibromatosis type 1 and lung mass has not frequently been found with neurofibromatosis and moyamoya syndrome. We report a case with Neurofibromatosis type I with Moyamoya syndrome and ganglioneuroma in lung with reviewing literatures.
Aneurysm ; Cerebral Arteries ; Circle of Willis ; Constriction, Pathologic ; Ganglioneuroma ; Iris ; Lung ; Moyamoya Disease ; Neurocutaneous Syndromes ; Neurofibromatoses ; Neurofibromatosis 1 ; Optic Nerve Glioma ; Pseudarthrosis

Neurofibromatosis type 1 (NF-1) is an autosomal dominant neurocutaneous disorder, which can affect different organs or systems of the body, including the cardiovascular system. One of the more serious aspects of the disease relates to arterial involvement. In particular, renal artery stenosis is one of the most common vascular abnormalities in patients with NF-1, and the manifestations vary, ranging from no symptoms to end-stage renal failure. Treatment usually consists of antihypertensive drugs, percutaneous transluminal angioplasty, or surgery. Other causes of hypertension should be ruled out and the patient followed up for close monitoring and proper management. We report a case of bilateral renal artery stenosis and hypertension in a patient with moyamoya disease associated with neurofibromatosis type 1. This report discusses the literature available on the current subject, its clinical features, diagnosis, and treatment.
Angioplasty ; Antihypertensive Agents ; Cardiovascular System ; Diagnosis ; Humans ; Hypertension* ; Kidney Failure, Chronic ; Moyamoya Disease* ; Neurocutaneous Syndromes ; Neurofibromatoses* ; Neurofibromatosis 1* ; Renal Artery Obstruction* ; Renal Artery*

Neurofibromatosis type 1 (NF-1) is an autosomal dominant neurocutaneous disorder, which can affect different organs or systems of the body, including the cardiovascular system. One of the more serious aspects of the disease relates to arterial involvement. In particular, renal artery stenosis is one of the most common vascular abnormalities in patients with NF-1, and the manifestations vary, ranging from no symptoms to end-stage renal failure. Treatment usually consists of antihypertensive drugs, percutaneous transluminal angioplasty, or surgery. Other causes of hypertension should be ruled out and the patient followed up for close monitoring and proper management. We report a case of bilateral renal artery stenosis and hypertension in a patient with moyamoya disease associated with neurofibromatosis type 1. This report discusses the literature available on the current subject, its clinical features, diagnosis, and treatment.
Angioplasty ; Antihypertensive Agents ; Cardiovascular System ; Diagnosis ; Humans ; Hypertension* ; Kidney Failure, Chronic ; Moyamoya Disease* ; Neurocutaneous Syndromes ; Neurofibromatoses* ; Neurofibromatosis 1* ; Renal Artery Obstruction* ; Renal Artery*

No abstract available.
Neurocutaneous Syndromes*