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1.
J Vasc Interv Radiol ; 35(1): 127-136.e1, 2024 01.
Artigo em Inglês | MEDLINE | ID: mdl-37704038

RESUMO

PURPOSE: To retrospectively evaluate sclerotherapy using consecutive polidocanol and bleomycin foam (CPBF) for large untreated venous malformations (VMs) and/or those resistant to prior treatment. MATERIALS AND METHODS: This retrospective study included all patients treated with CPBF for untreated VMs larger than 10 mL and/or refractory to treatment between May 2016 and October 2019. Baseline and follow-up VM volumes were measured on fat-suppressed T2-weighted magnetic resonance (MR) imaging. Outcome was evaluated on postprocedural MR imaging volumetry and by a retrospective survey assessing clinical response and adverse events. Imaging response was considered good for volume reduction from 50% to 70% and excellent for volume reduction ≥70%. Symptoms and quality-of-life (QoL) scores were compared before and after CPBF sclerotherapy. RESULTS: Forty-five patients (mean age, 16 years; range, 1-63 years; 25 males) with 57 VMs were analyzed and treated by 80 sclerotherapy. Sixty percent (27 of 45) of patients had undergone prior treatment for VM. Median VM volume was 36.7 mL (interquartile range, 84 mL) on pretherapy MR imaging. Good and excellent results after the last sclerotherapy were achieved in 36% (16 of 45) and 29% (13 of 45) of patients, respectively, corresponding to a decrease of >50% in 60% (34 of 57) of VMs. QoL score increased by at least 3 points, regardless of initial symptoms. Most patients did not desire additional sclerotherapy owing to near complete symptomatic relief, even for patients who did not achieve a good response. Swelling, pain, and motor impairment scores significantly improved after CPBF. Adverse events included fever (44%, 15 of 34) and nausea/vomiting (29%, 10 of 34). CONCLUSIONS: CPBF sclerotherapy represents an effective therapy for large and/or refractory VMs with minimal adverse events.


Assuntos
Escleroterapia , Malformações Vasculares , Masculino , Humanos , Adolescente , Escleroterapia/efeitos adversos , Escleroterapia/métodos , Polidocanol , Estudos Retrospectivos , Soluções Esclerosantes , Bleomicina/efeitos adversos , Qualidade de Vida , Veias/anormalidades , Imageamento por Ressonância Magnética , Malformações Vasculares/diagnóstico por imagem , Malformações Vasculares/terapia , Resultado do Tratamento
2.
J Craniomaxillofac Surg ; 51(9): 521-527, 2023 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-37460349

RESUMO

The aim of this case series was to complete the literature with six other cases of orthognathic surgery in patients treated with bisphosphonate (BP). The majority of studies concerning oral and maxillofacial surgery focus on dental extractions and implant placement in patients treated with BP. Only 5 cases of orthognathic surgery in patients treated with BP have been reported: four cases for osteogenesis imperfecta and one case for osteoporosis. Six patients were included in the study from January 2009 to December 2020: 3 treated for fibrous dysplasia and 3 treated for osteoporosis. BP treatment was stopped for 2 cases because it was the scheduled end of their treatment for fibrous dyplasia. The other four cases didn't stop taking BP for surgery. No precautions for the prevention of MRONJ were taken. The operative follow-up was uneventful. Mucosal healing was satisfactory for all patients at D15. No material exposure were observed. Bone consolidation appears complete on X-rays and on CT-scans at D45 with disappearance and bone filling of the fracture line associated with the absence of painful mobility of the maxilla and mandible on clinical examination. Until now, all the patients have a stable class I occlusion, no signs of osteonecrosis on X-rays (no signs of bone demineralization, no hypermineralized bone sequestration, no signs of osteolysis) or periodontal disease and healed osteotomies of the jaw without radiological features. No relapse were observed. The management of patients treated with bisphosphonate should be done carefully but orthognathic surgery is no longer a contraindication.

3.
Eur J Hum Genet ; 31(6): 621-628, 2023 06.
Artigo em Inglês | MEDLINE | ID: mdl-36732661

RESUMO

In some cases of infants with apparently isolated single-suture synostosis, an underlying variant can be found. We aimed to determine the molecular substratum in isolated sagittal and metopic craniosynostosis. To this end, we included all infants who presented isolated midline synostosis (sagittal or metopic) and had undergone surgery at the craniosynostosis national reference center of Lyon University Hospital. All infants were examined by a multidisciplinary team including neurosurgeons, clinical geneticists and neuropsychologist. Among 101 infants tested, 13 carried a total of 13 variants; that is, 12.9% of the infants carried a variant in genes known to be involved in craniosynostosis. Seven infants carried SMAD6 variants, 2 in FGFR2, 1 in TWIST1, one in FREM1, one in ALX4 and one in TCF12. All variants were detected at the heterozygous level in genes associated with autosomal dominant craniosynostosis. Also, neurodevelopmental testing showed especially delayed acquisition of language in children with than without variants in SMAD6. In conclusion, a high percentage of young children with isolated midline craniosynostosis, especially in isolated trigonocephaly, carried SMAD6 variants. The interpretation of the pathogenicity of the genes must take into account incomplete penetrance, usually observed in craniosynostosis. Our results highlight the interest of molecular analysis in the context of isolated sagittal and/or metopic craniosynostosis to enhance an understanding of the pathophysiology of midline craniosynostosis.


Assuntos
Craniossinostoses , Criança , Lactente , Humanos , Pré-Escolar , Craniossinostoses/diagnóstico , Craniossinostoses/genética
4.
Clin Exp Dermatol ; 48(5): 468-475, 2023 Apr 27.
Artigo em Inglês | MEDLINE | ID: mdl-36763772

RESUMO

BACKGROUND: Ultrasound imaging has recently benefited from the introduction of a new 70 MHz transducer able to provide high-resolution images, i.e. ultra-high-frequency ultrasound (UHFUS). AIM: To study the morphological features of basal cell carcinomas (BCCs) and measure BCC thickness by means of UHFUS examination. METHODS: In this retrospective multicentric study, 171 consecutive patients underwent UHFUS examination between November 2018 and May 2019 for suspected BCC. Diagnosis was confirmed by histopathology. A series of morphological parameters including echogenicity, structure, borders, shape composition (presence of intralesional structures) were investigated along with objective measurements such as thickness (maximum distance between the surface of the epidermis and the deepest part of the tumour) and width. RESULTS: In total, 117 BCCs from 93 patients were examined, including superficial (n = 13; 11.1%), nodular (n = 64; 54.7%), infiltrative (n = 18; 15.4%), mixed subtypes (n = 20; 17.1%) and other subtypes (n = 2; 1.7%). The most frequently observed UHFUS parameters included: hypoechoic signal (n = 80; 68.4%, P < 0.001), homogeneous structure (n = 76, 65.0%, P = 0.01), well-defined borders (n = 77, 65.8%, P < 0.001) and elongated shape (n = 71, 60.7%, P < 0.001). An excellent correlation was found between the BCC thickness measured by UHFUS and the value estimated by histology (interclass correlation ≥ 0.80). CONCLUSION: UHFUS is a new rapid and easy noninvasive skin imaging technique able to provide data on the dimensions and morphology of BCCs in real time and at the bedside. These characteristics mean UHFUS has a number of possible applications, ranging from presurgical mapping to the detection of disease recurrence and treatment monitoring.


Assuntos
Carcinoma Basocelular , Neoplasias Cutâneas , Humanos , Neoplasias Cutâneas/patologia , Projetos Piloto , Estudos Retrospectivos , Carcinoma Basocelular/patologia , Ultrassonografia/métodos
5.
J Stomatol Oral Maxillofac Surg ; 124(3): 101395, 2023 06.
Artigo em Inglês | MEDLINE | ID: mdl-36702352

RESUMO

INTRODUCTION: The aim of this study was to determine the predisposing factors of this deafness after orthognathic surgery for a population with no history of cleft palate. MATERIAL AND METHODS: All patients with significant auditory symptoms after orthognathic surgery performed in the department of Craniomaxillofacial surgery in the Croix Rousse Hospital, Lyon, France, since 2012 were included in the study. The exclusion criterion was a history of cleft palate. Bone movements performed during orthognathic surgery were analyzed. An audiometric assessment, including Pure Tone Audiometry and tympanometry, was performed at day 30 (D30), day 60 (D60) and day 90 (D90). RESULTS: Six patients were included in the study. All patients were women with a mean age of 33.5 years and suffered from class III skeletal deformities. The average hearing loss was 40 dB at D30, 20 dB at D60 and 5 dB at D90 with sometimes differences between the two ears. Five patients had a type C tympanogram suggesting Eustachian tube dysfunction and one patient had a type B tympanogram. All patients benefited from maxillary advancement of 5 mm on average. DISCUSSION: This study allows to conclude that female patients with a history of allergy or catarrhal tubal deafness are at risk of deafness after orthognathic surgery. These patients must be informed of this complication before surgery and be reassured about its reversibility.


Assuntos
Fissura Palatina , Surdez , Tuba Auditiva , Perda Auditiva , Humanos , Feminino , Adulto , Masculino , Tuba Auditiva/cirurgia , Perda Auditiva/diagnóstico , Perda Auditiva/epidemiologia , Perda Auditiva/etiologia , Fissura Palatina/cirurgia , Osteotomia de Le Fort
6.
J Stomatol Oral Maxillofac Surg ; 123(5): e544-e548, 2022 10.
Artigo em Inglês | MEDLINE | ID: mdl-35272090

RESUMO

Intra-mandibular arteriovenous malformations (IM-AVM) are rare congenital lesions sadly known by the appearance of cataclysmic haemorrhages. It represents a therapeutic challenge which requires a multidisciplinary approach. This paper aims to evaluate the characteristics and management of IM-AVM through the illustration of six case reports, the largest serie in the literature to our knowledge. This retrospective study included all patients with IM-AVM treated in the hospital of Lyon and Saint-Etienne between 1982 and 2021, in France. The management of mandibular AVMs should be individualized and permanently adjusted according to their stage of development, which makes their management difficult. Furthermore, long-term follow-up is essential to detect and manage the subclinical progression of the lesion. Based on these results and a systematic review of the literature, an algorithm has been developed to guide the treatment strategy for this are pathology.


Assuntos
Malformações Arteriovenosas , Malformações Arteriovenosas/diagnóstico , Malformações Arteriovenosas/terapia , França/epidemiologia , Humanos , Mandíbula , Estudos Retrospectivos
7.
Microsurgery ; 42(6): 593-602, 2022 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-35338520

RESUMO

BACKGROUND: Reverse anterolateral thigh perforator (ALTp) pedicle flap can be used to reconstruct perigenicular defect thanks to the anastomoses between the descending branch of the lateral circumflex femoral artery (LCFA) and the perigenicular network. In a few cases, however, patients do not present any ALTp. We hypothesized that, in such cases, an adjacent perforator, the tensor fascia latae perforator (TFLp), emerging from the LCFA ascending branch, could be used instead. To assess the feasibility of this technique, a radiological study was conducted. A first patient was treated using this option. METHODS: Sixty lower limb computed tomography were analyzed. The first treated patient was a 50-years-old man suffering from a 5-mm chronic bone exposure and osteomyelitis. Other reconstructive options were not indicated since he presented a multiscarry leg, severe arteriopathy, and no ALTp. A TFLp flap was raised, and the LCFA ascending and descending branches were dissected in continuity. After ligation of the LCFA, the blood flow reversed in the descending branch to irrigate the flap through the ascending branch. RESULTS: A TFL perforator was observed in all the cases of the radiological study. The LCFA branching pattern was compatible with achieving a reverse TFL perforator flap in 43 cases (72%). The average pedicle length was 32 cm (22-38 cm). In the first clinical case, the flap covered the defect easily. After three months, the patient showed no evidence of infection recurrence and recovered a painless walk. CONCLUSION: The reverse TFLp flap can be a suitable option for perigenicular reconstruction.


Assuntos
Retalho Perfurante , Procedimentos de Cirurgia Plástica , Angiografia , Fáscia , Artéria Femoral/cirurgia , Humanos , Extremidade Inferior/cirurgia , Masculino , Pessoa de Meia-Idade , Retalho Perfurante/irrigação sanguínea , Procedimentos de Cirurgia Plástica/métodos , Coxa da Perna/cirurgia
8.
J Prosthodont Res ; 66(4): 639-645, 2022 Oct 07.
Artigo em Inglês | MEDLINE | ID: mdl-35135957

RESUMO

PURPOSE: Several studies have evaluated the interest of Low Intensity Pulsed Ultrasound (LIPUS) in the osseointegration of dental implants in murine or rabbit models. However, the thinness and narrowness bones make it difficult to study the effect of LIPUS. The purpose of this study is to assess the ability of LIPUS to stimulate bone formation in contact with a titanium dental implant in a porcine model. METHODS: Eight adults mini-pigs were used. An implant is placed on each tibial crest in the metaphysis. The right side was treated with LIPUS at 1 MHz and 300 mW/cm2 of acoustic intensity during 15 minutes per day on 5 consecutive days and during 42 days. The left side was not treated. The Bone Volume/Total Volume ratio (BV/TV), the Intersection Surface (IS) of the volume of interest by the binarized bone and the Trabecular bone Thickness (TbTh) around the implant were analyzed. RESULTS: At 42 days, BV/TV ratio is significantly higher on the treated side (42,1+/-8,76% versus 32,31+/-10,11%, p < 0,02); as well as TbTh with 0,13+/-0,01 mm versus 0,10+/-0,01 mm (p < 0,01). IS is also significantly higher on the treated side (40,7 +/- 12,68 mm2 versus 33,68+/-9,44 mm2 at 200 µm from the implant surface; p < 0,01). CONCLUSION: The present study showed that LIPUS can significantly increase bone formation and accelerate the healing process at the bone-implant interface in a porcine model. Its low toxicity, low immunogenicity and non-invasion make it a complementary treatment of choice for improving the bone formation around titanium implants.


Assuntos
Implantes Dentários , Terapia por Ultrassom , Animais , Camundongos , Osseointegração/fisiologia , Coelhos , Suínos , Porco Miniatura , Titânio , Ondas Ultrassônicas
9.
J Stomatol Oral Maxillofac Surg ; 123(2): 257-261, 2022 04.
Artigo em Inglês | MEDLINE | ID: mdl-33798771

RESUMO

INTRODUCTION: Mandibular angle resection is an important procedure in facial feminization surgery. Two different approaches are described: trans-oral and cervico-facial lift (CFL) approaches. The aim of the study was to compare surgical outcomes and patient's satisfaction between the two approaches. MATERIAL AND METHODS: We retrospectively analyzed medical charts of patients who underwent mandibular angle resection in the same center by the same surgeon between 2017 and 2019. Aesthetic and functional results were objectively assessed using serial photographs and subjectively with patient self-assessments. All patients benefited from a medical consultation at least 6 months after the surgery. RESULTS: Seven patients benefited from trans-oral approach and 14 from CFL approach. The mean age was 42. No major complications occurred. No long-term nerve damage was found. Aesthetic evaluation showed mostly an improved result. All patients answered positively to the quality of life survey. DISCUSSION: These preliminary results of the study suggest that mandibular angle resection is a much-needed and safe surgical procedure regardless of the surgical approach. Patients who underwent facial feminization surgery frequently present a mixed indication of CFL and mandibular angle resection. The study is limited by the low number of patients included. Moreover, interpretation of results is biased because the patients benefited from other minor facial cosmetic procedures in the same surgery. We reported the first analysis of transgender patient's satisfaction concerning mandibular angle resection. This procedure improves quality of life as well as facial aesthetics for transgender patients.


Assuntos
Feminização , Qualidade de Vida , Adulto , Face/cirurgia , Feminização/cirurgia , Humanos , Masculino , Mandíbula/cirurgia , Estudos Retrospectivos
10.
J Biophotonics ; 15(2): e202100236, 2022 02.
Artigo em Inglês | MEDLINE | ID: mdl-34608756

RESUMO

Epidermal three-dimensional (3D) topography/quantification has not been completely characterized yet. The recently developed line-field confocal optical coherence tomography (LC-OCT) provides real-time, high-resolution, in-vivo 3D imaging of the skin. This pilot study aimed at quantifying epidermal metrics (epidermal thicknesses, dermal-epidermal junction [DEJ] undulation and keratinocyte number/shape/size) using 3D LC-OCT. For each study participant (8 female, skin-type-II, younger/older volunteers), seven body sites were imaged with LC-OCT. Epidermal metrics were calculated by segmentations and measurements assisted by artificial intelligence (AI) when appropriate. Thicknesses of epidermis/SC, DEJ undulation and keratinocyte nuclei volume varied across body sites. Evidence of keratinocyte maturation was observed in vivo: keratinocyte nuclei being small/spherical near the DEJ and flatter/elliptical near the skin surface. Skin microanatomy can be quantified by combining LC-OCT and AI. This technology could be highly relevant to understand aging processes and conditions linked to epidermal disorders. Future clinical/research applications are to be expected in this scenario.


Assuntos
Inteligência Artificial , Tomografia de Coerência Óptica , Epiderme/diagnóstico por imagem , Feminino , Humanos , Projetos Piloto , Pele , Tomografia de Coerência Óptica/métodos
11.
J Stomatol Oral Maxillofac Surg ; 123(4): 448-451, 2022 09.
Artigo em Inglês | MEDLINE | ID: mdl-34649014

RESUMO

PURPOSE: Many genetic diseases are responsible for a defect in the growth of the maxilla. Craniofacial syndromes such as Crouzon syndrome or Apert syndrome are typically associated with a major hypoplasia in the midface responsible for exophthalmos, leading to palpebral malocclusion and frequent corneal complications. Several treatments have been used to manage ocular protection in craniofacial syndromes such as tarsorrhaphy, a fronto-orbital advancement and/or a Lefort III osteotomy with or without distraction. We describe a new approach as a waiting solution to relieve exophthalmos: the autologous fat grafting of the lower eyelids. MATERIAL AND METHODS: Children operated from lipofilling of the lower eyelids at the Referral Center for craniosynostosis of Femme-Mère-Enfant Hospital in Lyon, were included. All the patients suffered from midface hypoplasia and exophthalmos with insufficient eyelid closure responsible of multiples episodes of keratitis and corneal ulcerations. RESULTS: Four children were included: three suffered from Crouzon Syndrome and one suffered from Apert Syndrome. The fat was reinjected at the level of the infraorbital rim, the nasolabial fold or the palpebrojugal fold, in the different planes, according to the patients' needs. Six months after surgery, a second surgery was performed for the patients whose lagophtalmos persisted. Six months after the second procedure, the results are satisfactory with a good eyelid closure. CONCLUSION: The lipofilling, well used in pediatric surgery to restore facial symmetry, can also be used, as a waiting solution or complement to treat complicated exophtalmos with visual prognosis involved in congenital craniofacial syndromes.


Assuntos
Acrocefalossindactilia , Disostose Craniofacial , Exoftalmia , Acrocefalossindactilia/cirurgia , Criança , Disostose Craniofacial/cirurgia , Pálpebras/cirurgia , Humanos , Síndrome
12.
Neurosurg Focus ; 50(4): E4, 2021 04.
Artigo em Inglês | MEDLINE | ID: mdl-33794500

RESUMO

OBJECTIVE: Different types of surgical procedures are utilized to treat craniosynostosis. In most procedures, the fused suture is removed. There are only a few reports on the evolution of sutures after surgical correction of craniosynostosis. To date, no published study describes neosuture formation after total cranial vault remodeling. The objective of this study was to understand the evolution of the cranial bones in the area of coronal and lambdoid sutures that were removed for complete vault remodeling in patients with sagittal craniosynostosis. In particular, the investigation aimed to confirm the possibility of neosuture formation. METHODS: CT images of the skulls of children who underwent operations for scaphocephaly at the Hôpital Femme Mère Enfant, Lyon University Hospital, Lyon, France, from 2004 to 2014 were retrospectively reviewed. Inclusion criteria were diagnosis of isolated sagittal synostosis, age between 4 and 18 months at surgery, and availability of reliable postoperative CT images obtained at a minimum of 1 year after surgical correction. Twenty-six boys and 11 girls were included, with a mean age at surgery of 231.6 days (range 126-449 days). The mean interval between total vault reconstruction and CT scanning was 5.3 years (range 1.1-12.2 years). RESULTS: Despite the removal of both the coronal and lambdoid sutures, neosutures were detected on the 3D reconstructions. All combinations of neosuture formation were seen: visible lambdoid and coronal neosutures (n = 20); visible lambdoid neosutures with frontoparietal bony fusion (n = 12); frontoparietal and parietooccipital bony fusion (n = 3); and visible coronal neosutures with parietooccipital bony fusion (n = 2). CONCLUSIONS: This is the first study to report the postoperative skull response after the removal of normal patent sutures following total vault remodeling in patients with isolated sagittal synostosis. The reappearance of a neosuture is rather common, but its incidence depends on the type of suture. The outcome of the suture differs with the incidence of neosuture formation between these transverse sutures. This might imply genetic and functional differences among cranial sutures, which still have to be elucidated.


Assuntos
Suturas Cranianas , Craniossinostoses , Criança , Suturas Cranianas/diagnóstico por imagem , Suturas Cranianas/cirurgia , Craniossinostoses/diagnóstico por imagem , Craniossinostoses/cirurgia , Feminino , Humanos , Lactente , Masculino , Estudos Retrospectivos , Crânio/diagnóstico por imagem , Crânio/cirurgia , Suturas
13.
J Prosthodont Res ; 65(1): 46-51, 2021 Feb 24.
Artigo em Inglês | MEDLINE | ID: mdl-32938859

RESUMO

PURPOSE: Many studies have shown the ability of low intensity pulsed ultrasound (LIPUS) to stimulate the bone, cartilage and tendon regeneration but only a few studied LIPUS interest in the regeneration of the oral mucosa. The purpose of this study is to assess the ability of LIPUS to stimulate the regeneration of the palatal mucosa in a porcine model. METHODS: Ten adults mini-pigs were used. Two mucosal wounds were realised on the left and right side of the palate of each pig. The right side was treated with LIPUS at 1 MHz of frequency and 300 mW/cm2 of acoustic intensity. The left side was not treated. The morphology of the wound was evaluated using a polymer silicone molding. RESULTS: The difference between two sides was significant from day 7 with a p value < 0.0001. At day 21, the wound is completely healed on all pigs with LIPUS. The control soft tissue defect exposed a healing of 80%. CONCLUSIONS: The present study showed that the use of LIPUS on the oral mucosa accelerates the healing of the masticatory mucosa.


Assuntos
Mucosa Bucal , Terapia por Ultrassom , Animais , Suínos , Porco Miniatura , Ondas Ultrassônicas , Cicatrização
14.
Microsurgery ; 41(3): 263-269, 2021 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-33103294

RESUMO

This report focuses a defect comprising the complete mandible due to osteonecrosis, including both condyles, that required bilateral temporomandibular joint (TMJ) reconstruction with complete mandibular corpus using a computer-aided-design and computer-aided-manufacturing(CAD-CAM) planning to harvest a scapula chimeric free flap combined with plate including bilateral alloplastic TMJ prosthesis. This procedure was realized in one and the same surgery. A 73 year-old-man developed an osteoradionecrosis of the total mandible including both condyles after radiation therapy for a squamous cell carcinoma of the tongue base(cT4aN2bM0G3). A CAD-CAM reconstruction was planned with a plate extended by bilateral individual TMJ prosthesis, individual fossa components and combined with a composite free flap originating from the subscapular vessel system including scapula(circumflex subscapular artery) for reconstruction of the mandibular corpus which was osteotomized in three segments with a resection guide, the parascapular skin paddle (descending branch of circumflex subscapular artery) for compensation of the soft tissue deficiency of the cervical skin and latissimus dorsi muscle(thoracodorsal artery) for the inner mucosal lining and intraoral reconstruction. The subscapular artery was anastomosed to the external carotid artery and two concomitant veins were sutured end-to-side to the internal jugular vein. The patient was discharged without feeding tube and tracheostomy. No complications have been observed after 6 months follow-up. The patient was able to tolerate soft diet and had comprehensible speech. Thus, a total mandibular reconstruction including both condyles using alloplastic and autoplastic reconstruction in one and the same stage is a valid option and may be considered in comparably severe cases.


Assuntos
Retalhos de Tecido Biológico , Reconstrução Mandibular , Placas Ósseas , Desenho Assistido por Computador , Computadores , Humanos , Mandíbula , Escápula/cirurgia , Articulação Temporomandibular
15.
Childs Nerv Syst ; 36(10): 2391-2399, 2020 10.
Artigo em Inglês | MEDLINE | ID: mdl-32583151

RESUMO

Osseous manifestations of neurofibromatosis 1 (NF-1) occur in a minority of the affected subjects but may be because of significant clinical impairment. Typically, they involve the long bones, commonly the tibia and the fibula, the vertebrae, and the sphenoid wing. The pathogenesis of NF-1 focal osseous lesions and its possible relationships with other osseous NF-1 anomalies leading to short stature are still unknown, though it is likely that they depend on a common mechanism acting in a specific subgroup of NF-1 patients. Indeed, NF-1 gene product, neurofibromin, is expressed in all the cells that participate to bone growth: osteoblasts, osteoclasts, chondrocytes, fibroblasts, and vascular endothelial cells. Absent or low content of neurofibromin may be responsible for the osseous manifestations associated to NF-1. Among the focal NF-1 osseous anomalies, the agenesis of the sphenoid wing is of a particular interest to the neurosurgeon because of its progressive course that can be counteracted only by a surgical intervention. The sphenoid wing agenesis is regarded as a dysplasia, which is a primary bone pathology. However, its clinical progression is related to a variety of causes, commonly the development of an intraorbital plexiform neurofibroma or the extracranial protrusion of temporal lobe parenchyma and its coverings. Thus, the cranial bone defect resulting by the primary bone dysplasia is progressively accentuated by the orbit remodeling caused by the necessity of accommodating the mass effect exerted by the growing tumor or the progression of the herniated intracranial content. The aim of this paper is to review the neurosurgical and craniofacial surgical modalities to prevent the further progression of the disease by "reconstructing" the normal relationship of the orbit and the skull.


Assuntos
Doenças do Desenvolvimento Ósseo , Neurofibromatose 1 , Células Endoteliais , Humanos , Neurofibromatose 1/complicações , Neurofibromina 1 , Osso Esfenoide/diagnóstico por imagem , Osso Esfenoide/cirurgia
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