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PubMed2005

Hamartoma involving the pseudarthrosis site in patients with neurofibromatosis type 1.

Congenital pseudarthrosis is a rare disease with variable clinical effects. The disease remains 1 of the most controversial pediatric entities in terms of etiopathogenesis, therapy, and prognosis. Between 0.5% and 2.2% of patients with neurofibromatosis demonstrate pseudarthrosis in any of the long bones. The exact origin of the lesion is even unclear; although several attempts have been made to determine the type of tissue involving the pseudarthrosis site, only fibrous tissue has been documented in different reports. We present 2 unrelated Mexican patients (male and female) with familial neurofibromatosis and congenital pseudarthrosis of the tibia and fibula. Histochemical and immunostain studies after surgical resection of the affected ends from the pseudarthrosis site of both patients showed a picture compatible with hamartoma. This is the first time when histologic evidence of hamartomatous tissue involving the pseudarthrosis site is presented.

Biomarkers↗
PubMedDate not supplied

Segmental neurofibromatosis follows blaschko's lines or dermatomes depending on the cell line affected: case report and literature review.

BACKGROUND: Segmental neurofibromatosis type 1 (NF-1) has the characteristic features of generalized NF-1 but is isolated to a particular segment of the body. Segmental NF-1 results from a postzygotic mutation during embryogenesis in the NF-1 gene on chromosome 17. The embryologic timing of the mutation and cell types affected predict the clinical phenotype. OBJECTIVE: We present a case of a 52-year-old woman with segmental neurofibromas isolated to the right cheek and neck. We review the recent literature on the genetic and cellular differences between the various clinical manifestations of segmental NF-1. METHODS: A MEDLINE search for cases of segmental neurofibromatosis was conducted. RESULTS: In patients with segmental NF-1 presenting as neurofibromas-only, the distribution follows a neural distribution in dermatomes because the genetic mutation appears to be limited to Schwann cells. In patients with pigmentary changes only, the NF-1 mutation has been shown to occur in fibroblasts and the distribution tends to follow the lines of Blaschko. CONCLUSION: Our patient's neurofibromas were secondary to a postzygotic mutation in the NF-1 gene of neural crest-derived cells. This mutation most likely occurred later in embryogenesis in cells that had already differentiated to Schwann cells and were committed to the dermatomal distribution of the right neck and cheek region (C2).

Cheek↗
PubMed2005

[Neurofibromatosis: the most frequent hereditary tumor predisposition syndrome].

With an incidence of one in 3000 to 4000 individuals, neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant genetic diseases and very likely the most frequent disorder with increased cancer risk. Approximately fifty percent of all patients are familial cases and the remaining half consists of sporadic cases with no affected parent. The hallmark clinical features present in over 90% of all patients are café-au-lait spots and neurofibromas. However, the disorder should not be underestimated as a "mere cosmetic problem", since NF1 patients are at increased risk to also develop malignant tumours, such as malignant peripheral nerve sheath tumours (MPNST), juvenile myelomonocytic leukaemia (JMML), optic glioma and pheochomocytoma. Renovascular disease represents an additional risk factor for NF1 patients. The NF1 gene is a classic example for a tumour suppressor gene. It functions as a negative regulator of the protooncogene Ras. This function explains well its involvement in tumour formation. During the last 15 years, since the cloning of the gene, enormous progress has been made towards a better understanding of the natural history of the disorder. However, it cannot be said if and when a cure of the disorder will be possible. Great advantages have been achieved in the monitoring and management of several NF1 complications, for instance in the treatment of tibia pseudarthrosis and optic gliomas. Owing to the technical improvements of the approaches applied to identify NF1-mutations molecular-genetic testing with high mutation detection rates may help nowadays in patients in which the clinical diagnosis may not readily be established, such as in young children or atypical cases. A greater awareness of the complications and the different expression forms of NF1 and NF2 on the part of all types of physicians will further help to offer all patients adequate and timely counselling and treatment. The establishment of multi-disciplinary counselling and treatment centres for neurofibromatosis could be an important step towards a better management of NF1 and NF2 patients.

Adolescent↗
PubMed2006

Unusual macular lesions in a patient with neurofibromatosis type-1.

BACKGROUND: Retinal involvement in neurofibromatosis type-1 (NF-1) is rare. METHODS: We present a case report of a 49-year-old man with neurofibromatosis who developed bilateral macular lesions associated with gradual reduction of visual acuity. RESULTS: Electrophysiology revealed an absent pattern electroretinogram. Fluorescein angiography demonstrated mottled hyperfluorescence of the maculae in the early-phase fluorescein angiogram followed by late staining of the lesions. CONCLUSIONS: Our patient had unusual bilateral macular lesions which had some features suggestive of adult-onset foveomacular vitelliform dystrophy. To the best of our knowledge, there have been no previous reports of such macular lesions occurring in association with NF-1.

Diagnosis, Differential↗
PubMed1975

Gastrointestinal hemorrhage--an unusual manifestation of neurofibromatosis.

Hemorrhage from intestinal neurofibromas or leiomyomas is an infrequent but often life-threatening complication of neurofibromatosis. Despite typical cutaneous findings, the bleeding tumor usually cannot be demonstrated because of its inaccessible location in the jejunum or ileum. In the present case, superior mesenteric arteriography successfully demonstrated hemorrhage from a jejunal leiomyoma. Review of the literature demonstrates the difficulty of establishing the correct diagnosis by other means. Arteriography should be the contrast procedure of first choice in the patient with neurofibromatosis and gastrointestinal bleeding.

Adult↗
PubMed1975

Optic nerve glioma and cerebellar astrocytoma in a patient with von Recklinghausen's neurofibromatosis.

A 2 and a half year-old boy with neurofibromatosis developed unilateral proptosis, decreased visual acuity, and optic disk edema. After the discovery and removal of an optic nerve glioma, the patient had ten years of excellent health until he began having headaches, nausea, and vomiting. He had papilledema in his remaining eye. At exploration, a cerebellar astrocytoma and a neuroglial hamartoma were removed. The occurrence of a glioma of right anterior visual pathway associated with other primary intracranial lesions in patients with neurofibromatosis was not previously reported.

Adolescent↗
PubMed1991

Maternal and perinatal complications in neurofibromatosis during pregnancy.

A total of ten patients with lesions of neurofibromatosis during pregnancy were followed up for pregnancy complications. Seven cases (70%) had hypertensive disorders of pregnancy; four had severe PET (pre-eclamptic toxemia) including one case of eclampsia, one had mild PET and the other two had only mild gestational hypertension. A total of 60% had preterm labor and in none of these did the baby survive; thus perinatal mortality was 600/1000. Mean gestation was 33.0 weeks and mean birthweight was only 1.924 kg. Thus, neurofibromatosis during pregnancy is associated with poor obstetrical outcome and requires greater care.

Adult↗
PubMed1983

Mandibular abnormalities in neurofibromatosis. Case report and literature review.

A patient with von Recklinghausen's neurofibromatosis that was undiagnosed until the sixth decade of life is discussed. He came for evaluation and treatment of multiple radiolucent lesions, bilaterally distributed throughout the mandible. Histologic examination of a cutaneous nodule, as well as of the intrabony radiolucencies, confirmed the diagnosis of neurofibromatosis. Examination of the intrabony radiolucencies revealed fibrous connective tissue with an inflammatory cell infiltrate. Family history revealed marked variation in expression of the clinical features of the disease.

Humans↗
PubMed1984

Neurofibromatosis: oral and radiographic manifestations.

Oral manifestations of neurofibromatosis have been reported in only 4% to 7% of affected persons. All oral tissues, hard and soft, have been reported to be affected with tumors, but the tongue has been the most common site. We report on the oral and radiographic findings in twenty-two patients with neurofibromatosis. The prevalence of oral and radiographic findings in our sample was 72%, which is much higher than previously reported. The five most common findings are oral neurofibromas, enlarged fungiform papillae, intrabony lesions, wide inferior alveolar canals, and enlarged mandibular foramina.

Adolescent↗
PubMed1988

Jaw and skull changes in neurofibromatosis.

Thirty-eight patients with neurofibromatosis were examined clinically and radiographically for manifestations of the disease in the head and neck region. Ninety-two percent of the sample had at least one intraoral or radiographic sign of the disease. This suggests that the incidence of jaw and skull involvement in neurofibromatosis may be greater than previously reported in the literature.

Adolescent↗
PubMed1991

Intrasellar cavernous angioma in neurofibromatosis.

A case of neurofibromatosis complicated by a large intrasellar (pituitary) cavernous angioma is reported. Vascular abnormalities, consisting of smooth muscle cell proliferation in the intima of the intermediate and small arteries, were also observed in branches of the renal and pulmonary arteries. An association between neurofibromatosis and intracranial cavernous angioma is discussed.

Autopsy↗
PubMed1981

Adult aqueductal stenosis with Recklinghausen's neurofibromatosis.

A 28-year-old man with von Recklinghausen's neurofibromatosis was first seen with a spastic-ataxic gait and epileptic seizures of recent onset. computerized tomographic scan established the diagnosis of aqueductal stenosis, rarely reported in patients with von Recklinghausen's disease. The value of computerized tomography in the etiological diagnosis of hydrocephalus in von Recklinghausen's disease is emphasized and the pathogenesis of aqueductal narrowing in neurofibromatosis is discussed.

Adult↗
PubMed1986

Neurofibromatosis, factor IX deficiency, and rhabdomyosarcoma.

A paratesticular rhabdomyosarcoma occurred in a child with factor IX deficiency and neurofibromatosis, illustrating the need to consider carefully the various etiologic possibilities of a soft-tissue mass in a child with neurofibromatosis and/or a bleeding disorder.

Diseases in Twins↗
PubMed1986

Paraganglioma of urinary bladder in patient with neurofibromatosis.

Pheochromocytoma in patients with von Recklinghausen's neurofibromatosis is a well-known association. However, extra-adrenal pheochromocytoma with this association is rare. Herein we report a case of urinary bladder paraganglioma in a patient with neurofibromatosis.

Aged↗
PubMed1989

Neurofibromatosis presenting as perineal pain and urethral burning.

Two unusual cases of neurofibromatosis are presented. The symptoms, focal perineal pain, and urethral burning, mimicked chronic prostatis or prostadynia. The cause of perineal pain is often baffling. The patients described had a very specific reason for their discomfort, which proved to be involvement of the peripheral nerves of the perineum by plexiform neurofibromas. Neurofibromatosis should be considered in the differential diagnosis of perineal pain, especially when palpable nodules are present.

Adult↗
PubMed1991

Hypertrophy of clitoral hood: presenting sign of neurofibromatosis in female child.

Although clitoral involvement with neurofibromatosis is rare, all cases previously reported have described clitoral hypertrophy due to neurofibromas of the clitoral corpora. We report on a patient who had localized enlargement of the prepuce only, with no evidence of neurofibromatous infiltration. In all cases, diagnosis of clitoromegaly requires basic chromosomal and endocrinologic evaluation. However, recognition of its association with neurofibromatosis due to either neurofibromas of the genitalia or localized genital hypertrophy may spare the patient an unnecessary or invasive evaluation. Because of an association with urinary tract neurofibromas, the patient with genital involvement should have cystoscopy. Clitoroplasty with sparing of the neurovascular bundle and glans is the preferred method of management of the enlarged clitoris.

Child, Preschool↗
PubMed1993

Renal angiomyolipoma associated with neurofibromatosis and primary carcinoid of mesentery.

A patient with von Recklinghausen's disease manifested by dermal neurofibromatosis and cafe-au-lait spots presented with complaints of malaise, weight loss, lower extremity weakness, and a palpable left lower abdominal quadrant mass. Evaluation revealed a lumbar neurofibroma, a localized primary carcinoid tumor of the mesentery, and a left renal angiomyolipoma. Although an association between neurofibromatosis and carcinoid has been previously reported, we believe this is the first report documenting the association of all three entities.

Carcinoid Tumor↗