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At least 271 records · Page 15Linked to original sources
PubMed1987

CO2 laser treatment of cutaneous neurofibromas.

Cutaneous benign neurofibromas are the most common skin manifestation of Von Recklinghausen neurofibromatosis (NF). An autosomal dominant disorder, NF has extraordinary clinical variability and multisystem involvement; many patients develop hundreds of cutaneous neurofibromas in a lifetime. This problem can easily and rapidly be treated using the CO2 laser with results equal to or better than excision. The procedure is very helpful for patients with large numbers of small- or medium-sized cutaneous neurofibromas.

Adult↗
PubMedDate not supplied

Hair whorl as an indicator of a mediastinal plexiform neurofibroma.

We report a boy with neurofibromatosis type 1 (NF-1) who had nonspecific respiratory symptoms and a mediastinal mass. In addition to multiple caté au lait macules and subcutaneous neurofibromas, he had a hair whorl over the spine at the level of a deep mediastinal mass demonstrated by CT scan and MR examination. Thoracoscopy and biopsy of the mass revealed a plexiform neurofibroma. The clinical sign of a hair whorl may assist the clinician in early recognition of a paraspinal plexiform neurofibroma.

Child↗
PubMed2004

Survival of Human Neurofibroma in Immunodeficient Mice and Initial Results of Therapy With Pirfenidone.

Neurofibromatosis type I is a common tumor predisposing disease in humans. Surgical therapy can be applied only in selected patients with resectable masses. Hence, development of new therapies for this disease is urgent. We used human neurofibroma implants in mice with severe combined immunodeficiency (SCID) as a model to test the toxicity and potential efficacy of pirfenidone, a new therapeutic agent. Two hundred twelve human neurofibromas were transplanted into various locations in 59 experimental animals, and 30 mice with implants received oral pirfenidone for up to six weeks. Survival of neurofibromas in animals treated with pirfenidone was lower than in the control group $(P=.02)$. Tumors did not change histologic appearance or vascularization in response to pirfenidone. Treatment with pirfenidone, a new antifibrotic agent, inhibits survival of some tumors without causing toxicity in animals.

Journal Article↗
PubMed2004

Synchronously diagnosed pre-sacral neurofibroma and cutaneous spitzoid melanoma: a fortuitous association?

BACKGROUND: At a U.S prevalence of 1 in 3000, Neurofibromatosis type-1 (NF-1) is a relatively common disorder. Amongst a variety of others, occurrence of 2 or more neurofibromas in the same patient represents one of the major diagnostic criteria for this disorder. Rarely, ocular, cutaneous or anorectal malignant melanomas may be identified in patients with NF-1, This rare association has caused controversy as to whether patients with NF-1 have an inherently higher risk for melanomas or whether the associations can be explained by chance alone. CASE PRESENTATION: The purpose of this report is to highlight the unusual confluence of rare clinicopathologic features in a patient without NF-1. The patient was diagnosed with an 8.5 cm pre-sacral neurofibroma and was shortly thereafter diagnosed with a cutaneous malignant melanoma showing spitzoid features. Pre-sacral neurofibromas are rare in patients without NF-1; likewise, malignant spitzoid melanoma, a controversial histopathological entity, is distinctly uncommon. CONCLUSIONS: The synchronous diagnoses of these neural crest derived tumor entities in a patient without neurofibromatosis lends credence to the view that when these two lesions occur in patients with NF-1, the association is coincidental.

Journal Article↗
PubMed2002

Rapid expansion of benign scalp neurofibroma caused by massive intratumoral hemorrhage--case report.

A 62-year-old man with neurofibromatosis type 1 presented with rapid growth of a scalp mass. Head computed tomography demonstrated a large extracranial tumor of soft tissue density with massive intratumoral hematoma. Cerebral angiography demonstrated remarkable hypervascularity of the tumor. Preoperative embolization and total removal of the tumor was performed. The tumor contained a large amount of intratumoral hematoma (500 ml). The histological diagnosis was neurofibroma without malignant transformation. Benign scalp neurofibroma showing massive intratumoral hemorrhage is rare. Rapid growth or intratumoral hemorrhage in neurofibroma may be an indicator of malignant transformation.

Hemorrhage↗
PubMed1999

Surgical treatment of multiple neurofibromas of the ulnar nerve in segmental neurofibromatosis. Case report.

The case of an 18-year-old man with numerous neurofibromas along his left ulnar nerve is described. The patient had a painful mass in the medial third of the internal aspect of his left forearm, and two additional symptomatic painful masses were identified during clinical examination: one in the distal portion of the retroepitroclear groove and another near the Guyon tunnel in the wrist. The main symptom was neurogenic pain; however, sensory and motor disturbances were also present. No other stigma of neurofibromatosis (NF) was found, and no cases of NF were known in the patient's family. During surgery many neurofibromas were found; the three painful neurofibromas and some of the other larger lesions were microsurgically excised. The patient's symptoms fit the criteria for segmental NF or NF5. This is a very rare form of NF characterized by lesions located in a particular area of the body.

Adolescent↗
PubMed2000

[Pacinian neurofibroma of the vulva].

OBJECTIVE: To report on a rare case of Pacinian neurofibroma of the vulva. METHODS: A 27-year-old patient who presented with a vulvar tumor is described. Patient evaluation showed no other remarkable findings. RESULTS: The nodule was resected without difficulty. The histopathological analysis-demonstrated Pacinian neurofibroma with abundant concentric laminar structures. The immunohistochemical (CD34+), ultrastructural and histological analyses showed perineural cells. No signs of neurofibromatosis were found. CONCLUSIONS: Pacinian neurofibroma may present in the vulva and could probably arise from the so-called perineural fibroblasts.

Adult↗
PubMed1992

[Unilateral lentiginosis--a segmental neurofibromatosis without neurofibromas].

Segmental neurofibromatosis (NF) is a usually non-inherited form of NF that is characterized by unilateral neurofibromas and/or café-au-lait spots. In partial unilateral lentiginosis (PUL), apart from unilateral lentigines, café-au-lait spots of different dimensions have been described in some patients without fulfilling the diagnostic criteria for NF. We report on three patients representing the 4th to 6th cases of segmental NF without neurofibromas. The diagnosis resulted from unilateral café-au-lait spots of different sizes in all patients and axillary "freckling" and associated skeletal alterations in two patients each. As these findings are clinically and histologically comparable to reported cases of PUL and moreover fulfil the diagnostic criteria for segmental NF, our cases support the hypothesis that PUL is a segmental NF lacking neurofibromas.

Child↗
PubMed1986

Forme fruste of von Recklinghausen's disease: unilateral association of an orbital neurofibroma, a trigeminal neurinoma, and an acoustic neurinoma. Case Report.

A patient who presented with a tumor of the left ambient cistern, a left cerebellopontine angle tumor, and a left orbital tumor causing left hearing loss and left exophthalmos without café au lait spots or cutaneous neurofibromas is described. There was no family history of von Recklinghausen's disease. A cerebellopontine angle tumor removed by a suboccipital craniectomy was an acoustic neurinoma. An ambient cistern tumor was approached through a subtemporal route. A tumor arising from the trigeminal nerve was also a neurinoma. An orbital neurofibroma was excised by a frontal craniotomy with removal of the orbital roof. This rare unilateral association of neurinomas and a neurofibroma on the left side was thought to be a forme fruste of von Recklinghausen's disease, and it could be considered a presentation of a mosaic of von Recklinghausen's disease.

Adult↗
PubMed1981

Plexiform neurofibroma: a case presentation.

A case of plexiform neurofibroma involving the foot has been reported. The literature is replete with cases involving other areas of the body (5-7, 9, 12-16). The immediate clinical problem associated with a plexiform neurofibroma is dependent upon its location. This case displayed no apparent systemic involvement except café au lait spots near the mass. The anatomical disruption and course along the posterior tibial nerve were remarkable. A plexiform neurofibroma of the foot is best treated by surgical excision because of its possible malignant transformation, its progressive nature, and the somatic problems that may result from disruption of normal anatomy.

Child↗
PubMed1996

Bone scans in neurofibromatosis: neurofibroma, plexiform neuroma and neurofibrosarcoma.

UNLABELLED: Neurofibromatosis type 1 or von Recklinghausen's disease is one of the most common autosomal dominant genetic disorders. Between 29% and 77% of patients may suffer from a wide range of skeletal abnormalities and, thus, patients with neurofibromatosis frequently undergo skeletal scintigraphy, at which time the common peripheral nerve soft-tissue tumors that occur in this syndrome (neurofibromas, plexiform neuromas and neurofibrosarcomas) may be demonstrated. METHODS: Single or multiphase 99mTc methylenediphosphonate (MDP) bone scans were performed in five patients with neurofibromatosis as part of their clinical evaluation. RESULTS: We imaged neurofibrosarcomas in three patients, cutaneous neurofibromas in one patient and a plexiform neuroma in one patient. CONCLUSION: Single- or multiphasic bone scans may localize common soft-tissue tumors in neurofibromatosis.

Adult↗
PubMed1979

Plexiform neurofibroma infiltrating the facial nerve.

A plexiform neurofibroma was unusual in that it extensively infiltrated the main trunk and branches of the left facial nerve without compromising function, rather than forming a circumscribed, compressive mass. Histologic sections showed diffuse involvement of even minute branches of the facial nerve. Electron microscopy disclosed Schwann cell and fibroblastic proliferation in a collagenous matrix. Collagen fibrogenesis by fibroblasts, but not by Schwann cells, was noted. Many of the Schwann cells were free of any association with nerve axons, which suggests that some release of the Schwann cell from its usually well-defined functions is involved in neurofibroma formation.

Child↗
PubMed1998

Coexistence of 3 tumors of neural crest origin: neurofibroma, meningioma, and uveal malignant melanoma.

OBJECTIVE: To describe the clinical findings in a patient who developed a neurofibroma, meningioma, and choroidal melanoma. METHODS: Clinical and histopathological findings of the case are reviewed and presented. RESULTS: The patient had a right superolateral periorbital neurofibroma, a right sphenoid wing meningioma, and a left choroidal juxtapapillary malignant melanoma. All 3 tumors are derived from neural crest cells. CONCLUSIONS: To our knowledge, this is the first report of a patient with this combination of 3 neural crest-derived tumors. This case is most appropriately classified as a complex neurocristopathy, a disorder involving the aberrant and pathological proliferation of multiple tissues derived from neural crest cells.

Choroid Neoplasms↗
PubMed1977

Surgical treatment of eyelid neurofibromas.

The classical surgical treatment of eyelid neurofibromas has been careful dissection of the tumor with preservation of much of the surrounding abnormal lid tissues. The reported outcome has been uniformly unfavorable. These tumors infiltrate extensively and are impossible to dissect out completely. However, the lateral location of lid neurofibromas allows "en bloc" resection of most of the tumor including the adjacent involved lid tissues. Levator function in these cases is potentially good and the lid will elevate well if the levator aponeurosis is joined to the tarsus laterally at the time of surgery. The four cases presented here indicate that this procedure is technically easier and may produce more acceptable results than other forms of treatment.

Adolescent↗
PubMed1990

Multiple orbital neurofibromas unassociated with von Recklinghausen's disease.

A 58-year-old man with a 10-year history of right periorbital pain treated with multiple analgesics presented with slowly progressive exophthalmos of the right eye. Orbital imaging studies disclosed three separate well-defined tumors, located in the temporal fossa, the intraconal space, and within the floor of the orbit. All three tumors were removed intact and proved on histopathologic evaluation to be localized neurofibromas. The patient had complete relief of the chronic pain following removal of the tumors. We emphasize that the unusual occurrence of multiple circumscribed orbital tumors should suggest the diagnosis of neurofibroma even in the absence of von Recklinghausen's neurofibromatosis.

Humans↗
PubMed1999

Penile neurofibromas.

Unless omitted and underreported, penile neurofibromas are rare. Between January 2, 1982 and December 31, 1997 through the USF Regional Genetics Program we evaluated 566 propositi with suspected or clinically diagnosed neurofibromatosis (NF1, NF2, segmental NF=NF5, NF/Noonan syndrome, familial café-au-lait macules, and solitary neurofibroma, NF). These index cases were part of 32,715 families evaluated during the period. NF1 was the diagnosis in 361; 2 of them had penile NFs. A toddler presented with congenital plexiform NF of the penile shaft and another propositus developed two small subcutaneous NFs, on the penile shaft and on the left scrotal wall, respectively. A review documented 26 additional patients with penile NF. As to the pathogenesis of the NF1 lesions, a paracrine growth model including the multiple levels of regulation of expression of the NF1 gene appeared more plausible than the loss of heterozygosity (LOH) model, which ignores the complexity of the paracrine growth mechanism.

Adolescent↗
PubMed2002

Management issues in massive pediatric facial plexiform neurofibroma with neurofibromatosis type 1.

BACKGROUND: Plexiform neurofibroma is a relatively common but potentially devastating manifestation of neurofibromatosis type 1 (NF1). Surgical management is the mainstay of therapy, but within the head and neck region it is limited by the infiltrating nature of these tumors, inherent operative morbidity, and high rate of regrowth. METHOD: We describe a case of a 7-year-old girl with neurofibromatosis type 1 and a massive facial plexiform neurofibroma with the aim of emphasizing the treatment and timing issues involved in the management of this difficult problem. A MEDLINE search (1966 through December 2000) was carried out, and pertinent literature on the subject was reviewed. RESULT: The patient described in this case report was carefully observed for a period of 6 years from diagnosis before surgical excision of the tumor was undertaken with an uneventful recovery. CONCLUSION: Surgical management remains the mainstay of treatment for these locally invasive tumors, but functional disturbances are almost inevitable in resecting substantial tumors involving the head and neck region. The indication and timing of surgery in pediatric patients therefore needs to be carefully weighed against the physical and psychologic consequences of treatment.

Child↗
PubMed2004

Large recurrent plexiform neurofibroma of the foot and ankle.

Plexiform neurofibroma often causes significant pain, deformity, and functional problems in the affected part of the body. Surgical management of the condition can be challenging, and local recurrence is common because of inadequate resection of the tumor. One patient with a large recurrent plexiform neurofibroma of the foot and ankle was treated successfully with a complete resection of the tumor, followed by a free latissimus dorsi muscle transfer with a skin graft for soft-tissue reconstruction. The patient has regained good contour of the foot and ankle, and has been symptom-free with no evidence of local recurrence in the affected area for 18 months. The authors believe that thorough preoperative planning and state-of-the-art reconstructions, as described here, are the keys to their success.

Adolescent↗