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PubMedDate not supplied

Cardiovascular disease in neurofibromatosis 1: report of the NF1 Cardiovascular Task Force.

PURPOSE: Patients with neurofibromatosis 1 (NF1) are at increased risk for a variety of cardiovascular disorders, but the natural history and pathogenesis of these abnormalities are poorly understood. METHODS: The National Neurofibromatosis Foundation convened an expert task force to review current knowledge about cardiovascular manifestations of NF1 and to make recommendations regarding clinical management and research priorities related to these features of the disease. RESULTS: This report summarizes the NF1 Cardiovascular Task Force's current understanding of vasculopathy, hypertension, and congenital heart defects that occur in association with NF1. Recommendations are made regarding routine surveillance for cardiovascular disease and diagnostic evaluation and management of cardiovascular disorders in individuals with NF1. CONCLUSION: Our understanding of the natural history and pathogenesis of cardiovascular disease in NF1 has improved substantially in the past few years, but many clinically important questions remain unanswered.

Advisory Committees↗
PubMed2005

Dendritic cell neurofibroma with pseudorosettes lacks mutations in exons 1-15 of the neurofibromatosis type 2 gene.

Dendritic cell neurofibroma with pseudorosettes (DCNWPR) is a recently proposed variant of neurofibroma with a distinctive microscopic appearance that is produced by a pseudorosette pattern formed by small, dark, lymphocyte-like cells (Type I cells) arranged concentrically around larger cells, with pale-staining vesicular nuclei and copious faintly eosinophilic cytoplasm (Type II cells). Although DCNWPR appears not to be associated with neurofibromatosis (NF), 1 patient with DCNWPR has been described and suggested to have a form of NF because of multiple skin lesions, with 2 of them being DCNWPR as confirmed histologically. The aim of this study was to find out whether the neurofibromatosis type 2 (NF2) gene is mutated in DCNWPR. Seven histologically proven cases of DCNWPR, from which a substantial amount of archival paraffin-embedded material was available, were selected for this study. Three cases have been previously reported, including the intraneural lesion, and 4 cases were newly identified. There were 3 female and 4 male patients, ranging in age from 30 to 61 years (median, 48 yrs). All patients clinically presented with a small solitary lesion that was clinically diagnosed as fibroma or neurofibroma, and none of the patients had signs of NF. Follow-up was known for 6 patients (range, 1-5 yrs; median, 2.5 yrs) and was uneventful in each case. Microscopically, all lesions fulfilled the criteria for DCNWPR. Exons 1 to 15 of the NF2 gene were amplified by PCR using primers previously published. The amplified fragments were purified and sequenced. The obtained sequences were computer analyzed and compared with the data of the GenBank database. No mutation was identified in 5 analyzed samples from which suitable DNA had been extracted. DCNWPR appears to have no mutation in exons 1-15 of the NF2 gene. Given the relatively small number of cases studied, it seems premature to declare that a mutation of the NF2 gene is not involved in DCNWPR, as the possibility cannot be excluded that mutations were present but remained undetected because they occurred in exons that were not examined.

Adult↗
PubMed1995

Neurofibromatosis 2 and neurilemmomatosis gene are identical.

Neurofibromatosis 2 (NF2) is an autosomal dominant disorder characterized by the occurrence of bilateral acoustic neuromas, as well as meningiomas and schwannomas. The gene locus for NF2 resides on chromosome 22q12 and has been cloned recently. Neurilemmomatosis is characterized by multiple cutaneous and spinal neurilemmomas without other signs of NF1 or NF2. Many cases with this disorder include the diagnosis of neurofibromatosis or other rare diseases unexplained by current nosology. In this study, we analyzed the peripheral leukocytes and tissue from cutaneous neurilemmomas of seven patients with neurilemmomatosis using DNA markers for different regions of chromosome 22. We detected allelic losses in three of seven tumors from seven patients with a probe for the NF2 region of the long arm of chromosome 22 and the germ-line mutations in two of three tumors from the same three patients. Mutations in the NF2 gene were a deletion from at least codon 334 to 579 and G insertion at codon 42. We conclude that the neurilemmomatosis locus lies within the NF2 region and that these diseases might be identical.

Adult↗
PubMed1994

Molecular genetic analysis of the von Recklinghausen neurofibromatosis (NF1) gene using polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) method.

Von Recklinghausen neurofibromatosis (NF1) is a common autosomal dominant disorder characterized by abnormalities in multiple tissues derived from the embryonic neural crest. The NF1 gene has been mapped to the pericentromeric region of the long arm of chromosome 17. Chromosome walking and sequencing of the NF1 gene have extended it's open reading frame; to date 49 exons have been identified. To investigate the mutation of the NF1 gene, the polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) method was applied to 4 exons of NF1 genes. We examined the DNAs from 49 samples, including those of 23 Japanese patients with NF1 (4 of these patients developed malignant schwannoma), a patient with segmental neurofibromatosis, and 14 clinically normal controls. A mutational band was detected in an exon of a tumor DNA extracted from a malignant schwannoma of a female NF1 patient. However, the mutation was not found in the germ line DNA of this patient. No mutations were detected in the other samples.

Adolescent↗
PubMed1999

Juvenile chronic myelogenous leukemia, neurofibromatosis 1, and xanthoma.

The triple association of leukemia, xanthomatous skin lesions, and neurofibromatosis 1 (NF) was first described by Royer et al. in 1958. Most of the leukemias were of the juvenile chronic myelogenous type (JCML). We describe a 7-year-old male child with xanthoma, neurofibromatosis 1, and juvenile chronic myelogenous leukemia. His mother also had NF1. We suggest that the presence of xanthomas and NF1 in a young child should raise awareness of the possible development of JCML, especially in patients with a family history of NF1.

Bone Marrow↗
PubMed2007

Neurofibromatosis type 2 in an infant with multiple plexiform schwannomas as first symptom.

Neurofibromatosis type 2 (NF2) is an autosomal dominant disorder that is caused by inactivating mutations or a loss of both alleles in the NF2 tumor-suppressor gene. Bilateral vestibular schwannomas are considered to be the hallmark of this disease, with hearing loss and tinnitus which are caused by these tumors, usually presenting as the initial symptoms. In addition to other tumors and ocular findings, skin abnormalities also occur in NF2, however, they are not so characteristic as neurofibromatosis type 1 (NF1). We herein report a case of NF2 which occurred in a 5-year-old boy. He had multiple cutaneous tumors but did not have any symptoms related to vestibular schwannomas. He also had multiple depigmented spots. A histopathological examination revealed these tumors to be plexiform schwannomas; we therefore suspected NF2. As a result of magnetic resonance imaging with gadolinium enhancement, bilateral vestibular schwannomas were detected and a final diagnosis of NF2 was thus made. The association between NF2 and multiple depigmented spots is unknown, we therefore consider that multiple cutaneous plexiform schwannomas may strongly suggest an association with NF2.

Child, Preschool↗
PubMed1975

Anaesthetic difficulties in neurofibromatosis.

Difficulties with general and regional anaesthesia in a patient with neurofibromatosis due to involvement of larynx and possibly also of the spinal column with tumour are described. The difficulties with anaesthesia due to neurofibromatosis are reviewed, and it is concluded that, while the majority of cases will present no problems, careful pre-operative assessment is of vital importance.

Adolescent↗
PubMed1987

Upper airway obstruction in neurofibromatosis.

A patient with von Recklinghausen's neurofibromatosis developed severe upper airway obstruction at the induction of anaesthesia and required emergency cricothyroidotomy. The cause was a neurofibroma at the base of the tongue. Features of von Recklinghausen's neurofibromatosis which may be of importance to the anaesthetist are reviewed.

Adult↗
PubMed2005

Symptoms associated with malignancy of peripheral nerve sheath tumours: a retrospective study of 69 patients with neurofibromatosis 1.

BACKGROUND: Neurofibromatosis 1 (NF1) is a common genetic disorder with variable clinical manifestations and an unpredictable course. Plexiform neurofibromas are common complications of NF1. Their malignant transformation is the main cause of mortality in adult patients with NF1. OBJECTIVES: To identify clinical factors associated with malignant transformation of plexiform neurofibromas. METHODS: Using the database of our neurofibromatosis clinic we included in a retrospective study all patients with NF1 having at least one peripheral nerve sheath tumour for which they underwent surgery or surgical biopsy. Predictive values for malignant transformation of three clinical symptoms, i.e. pain, enlargement of mass and neurological symptoms, were evaluated in association with histological parameters. RESULTS: Of 69 patients studied, 48 had at least one plexiform neurofibroma and 21 had a malignant peripheral nerve sheath tumour. Only enlargement of the tumour had high negative and positive predictive values for malignant transformation: 0.92 and 0.95, respectively. In multivariate analysis, tumour enlargement was independently associated with malignant transformation (odds ratio 167.8, 95% confidence interval 14.0-2012.1). CONCLUSIONS: From a practical point of view, pain, neurological deficit and enlargement of a pre-existing peripheral nerve sheath tumour in NF1 must lead to deep surgical biopsy to rule out malignant transformation.

Adolescent↗
PubMed1988

Neurofibromatosis associated with somatostatinoma: a report of two patients.

Two patients with neurofibromatosis and somatostatinoma are described, one patient in addition having a parathyroid adenoma diagnosed post mortem. The other patient had a partial somatostatinoma syndrome with diabetes, abdominal pain and cholelithiasis. The tumour was diagnosed preoperatively and metabolic studies demonstrated mild diabetes mellitus apparently due to suppression of insulin secretion by somatostatin, since oral glucose tolerance returned to normal post-operatively despite hemipancreatectomy. The tumour also secreted gastrin. There are now 18 reported cases of neurofibromatosis and duodenal carcinoid tumours which makes a genuine association between these two conditions very likely. With the present two cases, seven of the carcinoid tumours in this group have been positively identified as somatostatinomas. The histological finding of psammoma bodies is important in the diagnosis of duodenal somatostatinomas.

Adenoma↗
PubMed1986

Iris (Lisch) nodules in neurofibromatosis.

A group of 30 patients ranging from 4 to 56 years of age with the peripheral form of neurofibromatosis were evaluated for the presence of iris (Lisch) nodules. These nodules were observed in 73% of our cases and their presence was directly related to the severity of the skin manifestations of the disease. It is concluded that Lisch nodules are pathognomonic for neurofibromatosis and thus, their presence should be looked for in all suspected cases.

Adolescent↗
PubMed1987

Postaxial polydactyly in association with neurofibromatosis.

Von Recklinghausen neurofibromatosis may present many skeletal abnormalities as common features. We describe a family with postaxial polydactyly and neurofibromatosis, an association which has not been previously reported. The special characteristics of postaxial polydactyly of this family were its bilateral and symmetrical appearance, its limitation only to males, simultaneous presence of types A and B in the same patient, and its occurrence in both hands and feet. Postaxial polydactyly type A appeared only in the affected neurofibromatotic members of this family.

Female↗
PubMed1978

Neurofibromatosis in childhood.

A study of 78 children with neurofibromatosis showed that 40% had an autosomal dominant form of inheritence and a wide variety of manifestations which developed at varying stages during childhood. The pattern of these manifestations differed in many respects from the pattern seen in adults with neurofibromatosis. As a result of our inability to predict the future appearance of these manifestations and the difficulty encountered in treating advanced lesions, it is suggested that a policy of early detection and treatment is advisable. This applies particularly to intrathoracic neurofibromas, tumours of the optic nerves, spinal cord and brain, and kyphoscoliosis.

Bone Neoplasms↗
PubMed1988

Recurrent perforation complicating intestinal neurofibromatosis.

A patient with diffuse intestinal neurofibromatosis who presented with recurrent small bowel perforation is described. Such recurrent perforation has not been reported previously. Management at first perforation consisted of laparotomy, and excision of the perforated nodular lesion, with removal of the gall-bladder and appendix. The diagnosis of von Recklinghausen's disease was confirmed by skin biopsy. Management of the second perforation was conservative, with administration of intravenous antibiotics, fluid replacement therapy, and nasogastric suction. The third perforation was treated surgically, with resection of the small bowel, leaving approximately 50 cm of small bowel. Such an approach represented a compromise between cure of the neurofibromatosis and leaving sufficient small bowel to allow satisfactory alimentation.

Adult↗
PubMed1978

Neurofibromatosis and pregnancy.

Ten patients with neurofibromatosis were studied in 27 pregnancies. Two of the patients had evidence of pre-eclampsia in their first pregnancy but not in subsequent ones. In all other pregnancies, no adverse features were noted. It would seem that neurofibromatosis is not specifically associated with any obstetric complications. The need for further reporting of cases is stressed.

Abortion, Spontaneous↗
PubMed1990

Segmental neurofibromatosis in an octogenarian.

A case of segmental neurofibromatosis (SNF) in an octogenarian is presented. The patient's lesions were first noted when he was 74 years of age. This variant of neurofibromatosis (Riccardi's classification, NF-V) is most typically seen in childhood or young adulthood. To the best of our knowledge, our patient's SNF is the first case to present in the eighth decade of life. Physicians working with geriatric patients should be aware of this entity and its lack of genetic heritability or systemic manifestations.

Age Factors↗