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PubMed1996

[Fatal double tracheo-esophageal vascular compression and neurofibromatosis].

BACKGROUND: Vascular rings are a classical cause of tracheal and esophagus compression. We report the case of such an abnormality in an infant with neurofibromatosis. CASE REPORT: A 1 week-old male infant with a familial neurofibromatosis presented a stridor with severe respiratory distress. A vascular ring was demonstrated and operated on. The stridor persisted after surgery. A postoperative oesophagogram and tracheobronchoscopy showed an irregular compression of the oesophageal lumen, thought to be due to a residual extrinsic compression. Because the postoperative echocardiogram showed an extensive tumoral infiltration of both auricles, it was decided to not operate again the child. The postmortem examination revealed a disseminated neurofibromatosis infiltrating trachea, bronchi and also the wall of esophagus. CONCLUSION: Persisting stridor and oesotracheal compression postoperatively requires search for another cause. Association of vascular ring and neurofibromatosis is probably not fortuitous.

Aorta, Thoracic↗
PubMed2001

Lentiginous macules and patches of neurofibromatosis (an approach to better terminology).

BACKGROUND AND OBJECTIVES: Freckles (ephelides) are small, light brown macules of sun-exposed areas in fair-skinned subjects. On the other hand, freckle-like pigmentation of the axilla is a highly characteristic feature of neurofibromatosis. To what extent (clinically and pathologically) are the two pigmentary defects similar? And to what extent are café-au-lait patches and freckle-like lesions similar pathologically? SUBJECTS AND METHODS: Ten cases of neurofibromatosis and 10 cases of freckles were examined clinically. Two biopsies were taken from the former; one obtained from an axillary freckle-like lesion, and the other from a café-au-lait patch. One biopsy only was taken from freckles. The biopsies were processed for haematoxylin and eosin, silver stain and transmission electron microscopy. RESULTS: Obvious differences were detected between freckles (ephelides) and freckle-like lesions in cases of neurofibromatosis. Café-au-lait patches and freckle-like lesions showed the same pathological changes of lentigo simplex, with increased melanin pigment from the basal layer up to the stratum corneum, moderate elongation of the rete ridges and mild inflammatory infiltrate intermingled with melanophages. Electron microscopy revealed an increase in melanocyte number and the presence of giant melanin granules in freckle-like pigmentation as well as café-au-lait patches. These ultrastructural freckles (ephelides) showed an increase in activity but not the number of melanocytes. CONCLUSIONS: The term freckle-like should be changed to lentiginous macules of neurofibromatosis. On the other hand, the café-au-lait patches should be considered as lentiginous patches. Freckles should be restricted to sun-exposed areas in fair-skinned persons only.

Adolescent↗
PubMed2000

Rare complication of massive hemorrhage in neurofibromatosis with arteriovenous malformation.

Neurofibromatosis is rare in the general population. Its clinical manifestations are systemic and variable. The clinical presentation of cutaneous lesions is even more variable. Some patients have giant tumors in the trunk or limbs (so-called "elephant neurofibromatosis"). The pathological findings are diffuse neurofibromatosis of the nerve trunk associated with overgrowth of subcutaneous tissue and skin. The associated vascular malformations make most surgeons hesitant to address them because bleeding to death is possible if the bleeding is not well controlled. According to the authors' experience in treating this complication of neurofibromatosis, they noted that there are three key points to reducing the amount of hemorrhage to a minimal level: (1) hypotensive anesthesia, (2) preliminary sutures around the lesion, (3) ligation of the limited numbers of feeding vessels in the vascular malformation of the neurofibroma. Ligating these pedicles can decrease bleeding during resection of the neurofibroma, as demonstrated in their patient.

Arteriovenous Malformations↗
PubMed2002

Segmentally distributed neurofibromatosis associated with adenocarcinoma of the colon.

Neurofibromatosis can be associated with various malignancies, but an association with adenocarcinoma is extremely rare. A 61-year-old man who had been diagnosed with adenocarcinoma of the hepatic flexure of the colon was referred for segmentally located, multiple café-au-lait spots and tumors on his back and axillary freckles for 40 years. Histopathologic examination of the tumor was consistent with the neurofibromatosis. We report an unusual case of type I neurofibromatosis associated with adenocarcinoma of the colon that was clinically similar to segmental neurofibromatosis.

Adenocarcinoma↗
PubMed2005

Sclerosing segmental neurofibromatosis.

Segmental neurofibromatosis is a rare disorder characterized by cafe-au-lait macules and/or neurofibromas limited to a single body segment. The neurofibromas in segmental neurofibromatosis are usually soft, non-tender nodules as in other types of neurofibromatosis. Histopathologically, they are usually non-encapsulated, loosely textured dermal tumors. We report a case of sclerosing segmental neurofibromatosis, in which the patient presented with several grouped, erythematous to brownish, firm tender nodules on the left side of the posterior neck. Histopathologically, the stroma was mostly very fibrotic, especially around hair follicles, in addition to the usual features of neurofibroma. The atypical clinical feature, hardness, and tenderness of the lesions may be associated with the fibrosis.

Diagnosis, Differential↗
PubMed2006

Segmental neurofibromatosis: report of two cases.

Neurofibromatosis (NF), or von Recklinghausen's disease is comprised of a heterogeneous group of disorders, primarily affecting the skin, soft tissue, bone and central nervous system. Segmental neurofibromatosis (SN) is a rare form of NF, characterized by "café-au-lait" macules, freckles, and/or neurofibromas limited to a body segment. There are approximately 150 cases reported in the English published work. Bilateral segmental neurofibromatosis is a rare subtype of SN, manifesting with bilateral involvement of the body segments. Herein, we report two patients with SN; one associated with pectus excavatum, and the other case diagnosed as bilateral segmental neurofibromatosis. Asymmetry of the skull and thorax, kyphoscoliosis and segmental bone hypertrophy of the leg are skeletal abnormalities previously reported with SN. To the best of our knowledge, this is the first case of SN in association with pectus excavatum.

Child↗
PubMed1999

Pulmonary hypertension secondary to neurofibromatosis: intimal fibrosis versus thromboembolism.

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 angiographic evidence of chronic thromboembolic pulmonary hypertension. Severe intimal fibrosis consistent with vascular involvement with neurofibromatosis was found on endarterectomy with no evidence of pulmonary thromboembolism. Neurofibromatosis of pulmonary arteries should be considered as a possible cause of pulmonary hypertension.

Angiography↗
PubMed2006

Neurofibromatosis-associated lung disease: a case series and literature review.

An association of neurofibromatosis with diffuse lung disease (NF-DLD) has been described, but its true prevalence and characteristics remain unclear. The objective of the present study was to define diffuse lung disease in patients with neurofibromatosis. A retrospective case series and literature review in a tertiary care academic medical centre is reported in which medical records, chest radiographs and high-resolution computed tomography (HRCT) scans were reviewed. A total of 55 adult patients with neurofibromatosis were identified, three of whom had NF-DLD. A literature review revealed 16 articles reporting 61 additional cases, yielding a total of 64 NF-DLD cases. The mean age of patients was 50 yrs. Males outnumbered females; most reported dyspnoea. Of the 16 subjects with documented smoking histories, 12 were ever-smokers. Eight patients had HRCT scan results demonstrating ground-glass opacities (37%), bibasilar reticular opacities (50%), bullae (50%), cysts (25%) and emphysema (25%); none had honeycombing. A group of 14 patients had surgical biopsy results that showed findings of interstitial fibrosis (100%) and interstitial inflammation (93%). In conclusion, neurofibromatosis with diffuse lung disease is a definable clinical entity, characterised by upper lobe cystic and bullous disease and lower lobe fibrosis. Its relationship to smoking remains unclear.

Aged↗
PubMed2006

Painful rib hump: a new clinical sign for detecting intraspinal rib displacement in scoliosis due to neurofibromatosis.

BACKGROUND: Spinal cord compression and associate neurological impairment is rare in patients with scoliosis and neurofibromatosis. Common reasons are vertebral subluxation, dislocation, angulation and tumorous lesions around the spinal canal. Only twelve cases of intraspinal rib dislocation have been reported in the literature. The aim of this report is to present a case of rib penetration through neural foramen at the apex of a scoliotic curve in neurofibromatosis and to introduce a new clinical sign for its detection. METHODS: A 13-year-old girl was evaluated for progressive left thoracic kyphoscoliotic curve due to a type I neurofibromatosis. Clinical examination revealed multiple large thoracic and abdominal "cafe-au-lait" spots, neurological impairment of the lower limbs and the presence of a thoracic gibbous that was painful to pressure at the level of the left eighth rib (Painful Rib Hump). CT-scan showed detachment and translocation of the cephalic end of the left eighth rib into the adjacent enlarged neural foramen. The M.R.I. examination of the spine showed neither cord abnormality nor neurogenic tumor. RESULTS: The patient underwent resection of the intraspinal mobile eighth rib head and posterior spinal instrumentation and was neurologically fully recovered six months postoperatively. CONCLUSION: Spine surgeons should be aware of intraspinal rib displacement in scoliotic curves in neurofibromatosis. Painful rib hump is a valuable diagnostic tool for this rare clinical entity.

Journal Article↗
PubMed2003

Malignancy risk in patient with neurofibromatosis and autosomal dominant polycystic kidney disease.

Cancer appearance in some inherited diseases depends on the interactions with other genes. Lung cancer is rare in neurofibromatosis and has not been reported in Caucasian population. In this paper, we present the case of lung adenocarcinoma in a patient with neurofibromatosis, pseudoarthrosis of tibia, and autosomal dominant polycystic kidney disease. Cytogenetic analysis of the pleural effusion showed chaotic cleavage and constitutional inversion of chromosome 9, transmitted from the mother. Family investigation revealed two autosomal dominant diseases, neurofibromatosis and polycystic kidney disease in the same family. These findings suggest that the second autosomal dominant disease in the family and inversion of chromosome 9 contributed to the severity of neurofibromatosis and patient's risk to malignancies.

Adenocarcinoma↗
PubMed1993

[Segmental neurofibromatosis].

Segmental neurofibromatosis is a rare form of the disease characterized by the unilateral location of cutaneous neurofibromas and café au lait spots along one or several dermatomes. It corresponds to the fifth type in Riccardi's classification. We report the 83rd case of segmental neurofibromatosis discovered by chance in an 83-year old woman presenting with isolated cutaneous neurofibromas situated on the right T10-L1 dermatomes. Type five neurofibromatosis is divided into four subgroups according to the uni- or bilateral site of the lesions, the presence or absence of a family history and the association, or lack of, with deep regional or systemic lesions. It is usually not hereditary, but due to a post-zygotic somatic mutation in the primary neural crest. The disease has a favourable prognosis: no case of evolution towards generalized neurofibromatosis has ever been reported.

Aged↗
PubMed1993

Neurofibromatosis type 1. Beyond positional cloning.

Recent advances in molecular genetics have enabled researchers to more rapidly identify human disease genes. The identification of these genes by positional cloning has opened the door to a better understanding of such diseases through a more complete appreciation of the molecular biologic processes that underlie them. In this review, the approaches taken to dissect the function of the gene for von Recklinghausen neurofibromatosis are presented. These general approaches involve identification of the protein product, determination of its relation to other known proteins, analysis of its distribution in tissues, within cells, and over development, and dissection of its role in producing the disease phenotype. Last, the insights gained from studying the molecular biology of the neurofibromatosis type 1 gene have direct impact on other biologic processes, such as neoplasia, cellular differentiation, and growth factor-mediated signal transduction as well as potential application to improved treatments for neurofibromatosis type 1 and cancer.

Cloning, Molecular↗
PubMed1995

Indium-111 octreotide scintigraphy in neurofibromatosis.

Scintigraphy with the radiolabelled somatostatin analogue indium-111-DTPA-D-Phe-1-octreotide has recently been proposed for the imaging of CNS neoplasms expressing somatostatin receptors. While meningiomas are imaged with high sensitivity, neurinomas do not take up octreotide owing to the lack of somatostatin receptors. Neurofibromatosis is a relatively uncommon disorder in which meningiomas and neurinomas often occur in the same patient. Differential diagnosis between these two tumours by computed tomography and magnetic resonance imaging can be difficult. This study reports on 111In-octreotide scintigraphy in four patients with neurofibromatosis. 111In-octreotide scintigraphy was shown to be very helpful in the in vivo differential diagnosis: all four meningiomas showed intense tracer uptake, while all 15 neurinomas were negative (P < 0.001 by Fisher's exact test). It may be concluded that scintigraphy with 111In-octreotide is a useful diagnostic procedure in neurofibromatosis, complementing standard neuroradiological imaging procedures.

Adolescent↗
PubMed2000

Multiple coronary artery aneurysms in a child with neurofibromatosis type 1.

UNLABELLED: A number of frequently unrecognised vascular manifestations have been described in patients with neurofibromatosis type 1 (NF1), including involvement of the great vessels, cerebral, visceral and renal arteries. Rarely, changes in the coronary arteries have been reported in adults with NF1. We report on a 16-year-old boy affected by NF1 with dysmorphic features and three aneurysms in the mid-portion of the left descending coronary artery disclosed by chance during investigation for a malignant peripheral nerve sheath tumour. Molecular analysis detected a gross de novo deletion in the NF1 gene. The boy had had no previous cardiac symptoms but died suddenly after developing signs and symptoms suggestive of myocardial infarction. CONCLUSION: To the best of our knowledge, this represents the first report of multiple lesions in the coronary arteries in a child affected by neurofibromatosis type 1 with a known deletion of the neurofibromatosis type 1 gene.

Abnormalities, Multiple↗
PubMed1992

Oral manifestations of neurofibromatosis types I and II.

The disease known as neurofibromatosis is now recognized to consist of distinct variants that differ from each other genetically, microscopically, and clinically. Neurofibromatosis type I (NF-I) is often referred to as von Recklinghausen's disease of skin, and its features are well known. Neurofibromatosis type II (NF-II) is a much more uncommon manifestation that probably results from a structural defect in chromosome 22, as opposed to NF-I, which is related to chromosome 17. Although neurofibromas occur in NF-II, neurilemmomas and acoustic neuromas are the predominant neural tumors; bilateral acoustic neuromas are the hallmark of the disease. NF-II largely afflicts the central nervous system and has a more gradual onset than and different clinical features from NF-I. One case each of NF-I and NF-II is presented, with emphasis on oral manifestations. Diagnostic techniques, treatment, and prognosis are reviewed.

Female↗
PubMedDate not supplied

CNS Young Investigator Award Lecture: molecular analysis of the neurofibromatosis 2 tumor suppressor.

Neurofibromatosis 2 (NF2), also known as bilateral acoustic neurofibromatosis or central neurofibromatosis, is a severe autosomal dominant disease characterized by the development of multiple nervous system tumors. The tumors of NF2, which include schwannomas, meningiomas and ependymomas, are histologically benign; however, their location and multiplicity led to great morbidity and mortality. These tumors commonly affect the general population in their isolated form, and have been found to undergo loss of chromosome 22 material in many studies; because of this the NF2 gene has been postulated to be a classic tumor suppressor. The NF2 gene has recently been isolated and found to encode a new member of the protein 4.1 family of cytoskeletal associated proteins which we have named merlin. To define the molecular basis of NF2 in germline and tumor specimens, we have used single-stranded conformation polymorphism (SSCP) analysis to scan the exons of the NF2 gene. We have located and characterized underlying causative mutation in 21 of 33 unrelated affected individuals studied, and 32 of 38 schwannomas. DNA sequence analysis revealed that over 90% of NF2 mutations are predicted to lead to a truncated protein due to frameshift, creation of a stop codon, or interference with normal RNA splicing. Current studies focus on relating the highly variable NF2 phenotype to its genotype, defining alternative NF2 related phenotypes, and elucidating the parental origin of new mutation in this disease.

Adolescent↗
PubMed2006

[Difficulties of the management of head and neck neurofibromatosis].

INTRODUCTION: Neurofibromatoses represent a group of 7 diseases having the same cutaneous signs due to a common embryologic origin. The types 1 and 2 are the most frequent and the most studied. Neurofibromatosis type 1 (NF1) or Von Recklinghausen's neurofibromatosis is an autosomal dominantly inherited disease, whose prevalence is 1/4500. The cranio-orbitotemporal lesions exist in 1 to 10% of the cases. Neurofibromatosis type 2 (NF2) is also an autosomal dominantly inherited disease, but is ten times less frequent than the NF1 and is characterized by bilateral vestibular schwannomas (former acoustic neurinomas). The purpose of this work was to detail the clinical features, highlighting the diagnostic and therapeutic difficulties. MATERIAL AND METHODS: Nine patients managed between 1990 and 2005 were reviewed retrospectively. Eight patients were found carrier of NF1 and one patient carrier of NF2 according to the diagnostic criteria of the 1988's National Institute of Health consensus. RESULTS: Five women and four men were managed; patient age varied between 13 and 62 years and the mean age was 26 years. Surgical resection of the tumor was carried out among 8 patients with bone reconstruction of the orbit on 3 patients and cutaneous expansion on one other. The results are difficult to appreciate especially that the surgery was iterative. However, all our patients were satisfied with the result and we noted recurrence in a patient presenting a retro-auricular tumor, which filled the external auditory canal requiring a further surgery. The patient having NF2 was treated by neurosurgery and showed a good result. DISCUSSION: The NF1 manifestations are extremely variable. Facial neurofibromatoses are difficult to control given the presence of soft tissues infiltration and the associated osseous dysplasia. The results are modest and recurrence is frequent. Cancer risks and the disease's completely unpredictable evolution urge a regular and multidisciplinary patient follow-up.

Adolescent↗
PubMed2005

A case of neurofibromatosis and breast cancer: loss of heterozygosity of NF1 in breast cancer.

Only a few cases with breast cancer and neurofibromatosis type 1 (NF1) have been reported in the literature. Here, we present a family with a history of neurofibromatosis and breast cancer. No hereditary NF1 mutation was observed in this case. Loss of heterozygosity (LOH) analyses of the breast tumor revealed LOH in the NF1 region. In this family, the proband and her mother had breast cancer. The proband was diagnosed with breast cancer at the age of 23 years. No BRCA1 or BRCA2 mutations were observed in the proband's peripheral blood DNA nor were such mutations observed in the immunohistochemically analyzed paraffin block of the tumor DNA. Neurofibromin, encoded by the NF1 gene region, was reported as nearly absent in human breast cancer-MDA-MP-231 cells. Neurofibromin is similar in function to the GTPase activating protein (GAP), p120 GAP. It also accelerates the inactivation of the RAS oncogene. Molecular alterations in NF1 gene region cause neurofibromatosis. LOH in the tumor tissue of our case supports the role of the NF1 gene in the etiology of some cases of breast cancer.

Adult↗