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Neurofibromatosis
Abstract
Neurofibromatosis (NF) is an inherited disorder characterized by the development of a wide variety of clinical manifestations, including characteristic "freckle-like" pigmentations (cafe au lait spots) that develop in infancy, followed by skin tumors that may vary widely in size, number, and distribution. In addition to skin tumors, bone, neurologic, and endocrine abnormalities are common. NF is recognized in eight different types, with clinical heterogeneity being the hallmark of this disease. Malignant degeneration of the tumor to neurofibrosarcoma is rare. Early diagnosis, genetic counseling, treatment of symptoms, and appropriate surgery are the tools available for management of NF patients. Surgical procedures generally involve judicious subtotal resection, combined with reconstructive efforts aimed at functional improvement and cosmesis.
... Surgical procedures generally involve resection, combined with reconstructive strategies aimed at functional and aesthetic improvement [8]. Although the majority of neurofibromas can be excised completely by a subcutaneous approach, and closed primarily, surgery of extensive neurofibromas (massive soft tissue neurofibromas) can be challenging due to their high vascularity [3,8-10]. ...
... Early diagnosis based on the clinical phenotype, genetic counseling, treatment of symptoms, and appropriate surgeries are the tools available for management of patients with NF1 [3]. Surgical procedures generally involve resection, combined with reconstructive strategies aimed at functional and aesthetic improvement [8]. Although the majority of neurofibromas can be excised completely by a subcutaneous approach, and closed primarily, surgery of extensive neurofibromas (massive soft tissue neurofibromas) can be challenging due to their high vascularity [3,8-10]. ...
The neurofibromatoses are inherited tumor predisposition syndromes involving two major clinical phenotypes: neurofibromatosis type 1 (von Recklinghausen's disease) is linked to chromosome 17q, and tends to occur seven times more frequently than neurofibromatosis type 2. Neurofibromatosis type 1 entails a distinctive cutaneous manifestation prevailed upon by benign neurofibromas, which may vary in size, number and distribution. On the histological level, neurofibromas are composed of an admixture of neurilemmal cells, including Schwann cells, fibroblasts, and -- to a lesser extent -- perineurial cells.
The case of a 39-year-old Caucasian man with a voluminous recurrent neurofibroma of 27x15cm extending from the left gluteal region to thoraco-lumbar levels Th6 through L4 is reported. Within the soft tissue tumor a pseudocyst of 7.3x9.3cm was found preoperatively.
Histopathological study of the excised mass was conspicuous for revealing a large number of multinucleated floret-like giant cells within an otherwise classical soft tissue neurofibroma.Previous reports on neurofibromas with multinucleated floret-like giant cells are distinctly scant. Available evidence from the literature does not suggest any consistent correlation of multinucleated floret-like giant cells in neurofibromas with gender, age, traumatic antecedents, size of the lesion, recurrence, or malignant transformation. Furthermore, the presence of such cells may not be specific for neurofibromatosis type 1, as they occasionally are encountered in some unrelated mesenchymal neoplasms as well.
Fibrous dysplasia, neurofibromatosis, and hemangiomas are conditions that produce tumors of great variety in the craniofacial region. With fibrous dysplasia there is expansion of the skeletal elements by an immature form of bone. Hemangiomas may cause underlying bony hypertrophy as a result of their hypervascular nature, but they may also be associated with bony erosion as a consequence of multiple expanding arteriovenous fistulae. Neurofibromas may also be vascular but tend to cause bony erosion.
The aim of the study was to evaluate the outcome of treatment of facial deformities in patients with Recklinghausen’s disease.
Twenty-nine patients suffering from Recklinghausen’s disease were treated at the Hospital of Plastic Surgery in Polanica Zdrój
in the years 1990–2005. The age of patients when they were first seen was from 1 to 23years (mean age 11years). Most of
the patients were followed up for 1 to 31years and were submitted to surgical treatment only periodically. All the patients
had facial lesions, including 14 with tumours within the orbits and eyelids. Altogether, 198 partial or complete resections
of neurofibromas and corrective procedures were performed (average 6.8 operations per one patient). Nodules on the head, eyelids,
cheeks and nose were most commonly resected. Reduction in the tumour mass resulted in improvement of facial symmetry. The
resections were often repeated several times in the same area with additional resections in other body areas. Histopathological
examinations revealed plexiform neurofibroma in seven cases, while malignant carcinoma was not diagnosed in any of the cases.
Three patients developed mild complications (1.5%). Facial neurofibromas occurring in the course of von Recklinghausen’s disease
require surgical treatment, which is often multi-stage because of benign but progressive proliferation of tumours. Systematic
reduction in tumour mass may decrease the risk of malignant transformation.
A 65-year-old woman developed a tumor on the medial aspect of the lumbosacral spine. The diagnosis on biopsy was neurogenic
sarcoma, T3N0M0. Despite wide surgical excision and regular follow-up, the patient developed a local recurrence requiring
several supplementary operations before her death 4 years after the initial diagnosis. This case illustrates the highly aggressive
and recurrent nature of these rare neurogenic tumors; they require early multidisciplinary management and regular careful
follow-up.
Neurofibromatosis (von Recklinghausens disease) is a hereditary and autosomal dominant disorder that produces pigmented spots (caf au lait spots) and tumors of the skin and of the peripheral, optic and acoustic nerves, and subcutaneous and bony deformities. Giant plexiform neurofibroma can pose a formidable surgical challenge. Excision of these tumors can be complicated due to size, location and hypervascularity. An unusual case of a giant neurofibroma of the back is described.
Neurofibromatosis type 1 (NF-1) is a locally invasive tumor that can grow extensively with diffuse infiltration into surrounding tissue. Resecting a large neurofibroma can result in an extensive defect that is difficult to reconstruct and can cause both aesthetic and functional deformities.
From 2000 to 2010, 5 patients with NF-1 underwent radical resection and immediate reconstruction with 6 free flaps at our institution. All patients presented with recurrent tumor, and involved head and neck region in 4 and foot in 1 patient. Ages ranged from 18 to 75 years. The follow-up ranged from 1 to 94 months.
Defect sizes ranged from 84 to 252 cm. A single free flap was used in 4 cases and 2 free flaps were used in 1 case. All the flaps survived. Complications included loss of skin graft, necrosis of the distal tip of a flap, and wound dehiscence. All complications were successfully managed with minor surgical procedures.
Immediate reconstruction using a free flap after resecting a large neurofibroma is a safe and reliable method that facilitates radical resection of the tumors that are difficult to resect and that may result in an extensive defect.
The distribution of somatomedin C (Sm-C; insulin-like growth factor I; IGF-I) immunoreactivity was examined in biopsies from three patients having the diagnosis neurofibromatosis established on clinical and histopathological criteria. All biopsies showed increased Sm-C immunoreactivity limited to areas with neurofibromas. Schwann cells, adjacent spindle-shaped fibroblast-like cells and newly formed blood vessels were positive. In addition, Sm-C immunoreactivity could be demonstrated in cells in the buccal epithelium. There was faint or no Sm-C immunoreactivity in biopsies from normal tissue of the patients and in specimens from control subjects. We propose that an abnormally increased local production of Sm-C, most likely by Schwann cells, forms a link in the chain of pathogenic events resulting in the disease neurofibromatosis.
Congenital localized hypertrichosis in the periorbital region is an uncommon finding. The authors report two patients with hypertrichosis and cutaneous hyperpigmentation overlying a periorbital neurofibroma.
In addition to a complete ophthalmic and systemic examination, the patients underwent computed tomography of the head and biopsy of the tumor.
Case 1 previously had received a diagnosis of neurofibromatosis type I. On examination, hyperpigmentation, hypertrichosis, and swelling in the right supraorbital region were noted. A computed tomographic scan showed a tumor in the same region. The tumor was removed, and a plexiform neurofibroma was diagnosed. Case 2 was admitted with hyperpigmentation, hypertrichosis, and swelling of the left half of her face. Other signs of neurofibromatosis were absent. A computed tomographic scan showed a tumor, which was underlying the skin changes. Results of histologic examination of the biopsy specimen showed a plexiform neurofibroma.
Neurofibroma-associated hypertrichosis should be considered in the differential diagnosis of congenital localized hypertrichosis.
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