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Chinese Journal of Reparative and Reconstructive Surgery ; (12): 1-8, 2024.
Article in Chinese | WPRIM | ID: wpr-1009100


OBJECTIVE@#To summarize the gene therapy strategies for neurofibromatosis type 1 (NF1) and related research progress.@*METHODS@#The recent literature on gene therapy for NF1 at home and abroad was reviewed. The structure and function of the NF1 gene and its mutations were analyzed, and the current status as well as future prospects of the transgenic therapy and gene editing strategies were summarized.@*RESULTS@#NF1 is an autosomal dominantly inherited tumor predisposition syndrome caused by mutations in the NF1 tumor suppressor gene, which impair the function of the neurofibromin and lead to the disease. It has complex clinical manifestations and is not yet curable. Gene therapy strategies for NF1 are still in the research and development stage. Existing studies on the transgenic therapy for NF1 have mainly focused on the construction and expression of the GTPase-activating protein-related domain in cells that lack of functional neurofibromin, confirming the feasibility of the transgenic therapy for NF1. Future research may focus on split adeno-associated virus (AAV) gene delivery, oversized AAV gene delivery, and the development of new vectors for targeted delivery of full-length NF1 cDNA. In addition, the gene editing tools of the new generation have great potential to treat monogenic genetic diseases such as NF1, but need to be further validated in terms of efficiency and safety.@*CONCLUSION@#Gene therapy, including both the transgenic therapy and gene editing, is expected to become an important new therapeutic approach for NF1 patients.

Humans , Neurofibromatosis 1/pathology , Neurofibromin 1/metabolism , GTPase-Activating Proteins , Mutation , Genetic Predisposition to Disease , Genetic Therapy
Arch. argent. pediatr ; 121(3): e202202782, jun. 2023. ilus
Article in English, Spanish | LILACS, BINACIS | ID: biblio-1437252


Los neurofibromas laríngeos (NFL) son tumores benignos poco frecuentes de localización principalmente supraglótica. Se manifiestan con síntomas obstructivos de la vía aérea. El tratamiento es la resección completa del tumor mediante abordaje endoscópico; se reserva la cirugía abierta para tumores de gran extensión. Se presenta el caso de un paciente pediátrico con localización atípica de NFL asociado a neurofibromatosis tipo 1 (NF1). Se realizó resección endoscópica del tumor y la anatomía patológica informó neurofibroma plexiforme. Es importante sospechar de esta patología en todo niño con estridor inspiratorio atípico progresivo. Se sugiere seguimiento a largo plazo por la alta probabilidad de recidiva.

Laryngeal neurofibromas (LNFs) are rare benign tumors mainly located in the supraglottis. LNFs occur with airway obstruction symptoms. The treatment is complete resection via an endoscopic technique; the open approach is reserved for large tumors. Here we describe the case of a pediatric patient with LNF of atypical location associated with neurofibromatosis type 1 (NF-1). The tumor was resected with an endoscopic technique, and the pathological study reported a plexiform neurofibroma. It is important to suspect this condition in any child with atypical, progressive inspiratory stridor. Long-term follow-up is recommended due to the high rate of recurrence

Humans , Male , Infant , Neurofibromatosis 1/complications , Neurofibromatosis 1/diagnosis , Neurofibromatosis 1/pathology , Neurofibroma, Plexiform/surgery , Neurofibroma, Plexiform/complications , Neurofibroma, Plexiform/diagnosis , Larynx/pathology , Respiratory Sounds/etiology , Endoscopy
Chinese Journal of Pediatrics ; (12): 1124-1128, 2023.
Article in Chinese | WPRIM | ID: wpr-1013234


Objective: To summarize the clinical characteristics of epileptic seizure associated with neurofibromatosis type 1 (NF1). Methods: From January 2017 to July 2023 at Children's Hospital Capital Institute of Pediatrics, medical records of patients with both NF1 and epileptic seizure were reviewed in this case series study. The clinical characteristics, treatment and prognosis were analyzed retrospectively. Results: A total of 15 patients(12 boys and 3 girls) were collected. Café-au-lait macules were observed in all 15 patients. There were 6 patients with neurodevelopmental disorders and the main manifestations were intellectual disability or developmental delay. The age at the first epileptic seizure was 2.5 (1.2, 5.5) years. There were various seizure types, including generalized tonic-clonic seizures in 8 patients, focal motor seizures in 6 patients, epileptic spasm in 4 patients, tonic seizures in 1 patient, absence in 1 patient, generalized myoclonic seizure in 1 patient and focal to bilateral tonic-clonic seizure in 1 patient. Among 14 patients whose brain magnetic resonance imaging results were available, there were abnormal signals in corpus callosum, basal ganglia, thalamus or cerebellum in 6 patients, dilated ventricles of different degrees in 3 patients, blurred gray and white matter boundary in 2 patients, agenesis of corpus callosum in 1 patient and no obvious abnormalities in the other patients. Among 13 epilepsy patients, 8 were seizure-free with 1 or 2 antiseizure medications(ASM), 1 with drug resistant epilepsy was seizure-free after left temporal lobectomy, and the other 4 patients who have received 2 to 9 ASM had persistent seizures. One patient with complex febrile convulsion achieved seizure freedom after oral administration of diazepam on demand. One patient had only 1 unprovoked epileptic seizure and did not have another seizure without taking any ASM. Conclusions: The first epileptic seizure in NF1 patients usually occurs in infancy and early childhood, with the main seizure type of generalized tonic-clonic seizure and focal motor seizure. Some patients have intellectual disability or developmental delay. Most epilepsy patients achieve seizure freedom with ASM.

Male , Female , Humans , Child, Preschool , Child , Neurofibromatosis 1/diagnosis , Retrospective Studies , Intellectual Disability , Electroencephalography , Epilepsy/etiology , Seizures/etiology
Chinese Journal of Pathology ; (12): 924-930, 2023.
Article in Chinese | WPRIM | ID: wpr-1012336


Objective: To investigate the clinicopathological, immunophenotypic, and genetic features of malignant peripheral nerve sheath tumor (MPNST). Methods: Twenty-three cases of MPNST were diagnosed at the Jiangsu Province Hospital (the First Affiliated Hospital of Nanjing Medical University), China, between January 2012 and December 2022 and thus included in the study. EnVision immunostaining and next-generation sequencing (NGS) were used to examine their immunophenotypical characteristics and genomic aberrations, respectively. Results: There were 10 males and 13 females, with an age range of 11 to 79 years (median 36 years), including 14 cases of neurofibromatosis type I-associated MPNST and 9 cases of sporadic MPNST. The tumors were located in extremities (7 cases), trunk (4 cases), neck and shoulder (3 cases), chest cavity (3 cases), paraspinal area (2 cases), abdominal cavity (2 cases), retroperitoneum (1 case), and pelvic cavity (1 case). Morphologically, the tumors were composed of dense spindle cells arranged in fascicles. Periphery neurofibroma-like pattern was found in 73.9% (17/23) of the cases. Under low magnification, alternating hypercellular and hypocellular areas resembled marbled appearance. Under high power, the tumor cell nuclei were irregular, presenting with oval, conical, comma-like, bullet-like or wavy contour. In 7 cases, the tumor cells demonstrated marked cytological pleomorphism and rare giant tumor cells. The mitotic figures were commonly not less than 3/10 HPF, and geographic necrosis was often noted. Immunohistochemically, tumor cells were positive for S-100 (14/23, 60.9%) and SOX10 (11/23, 47.8%). The loss of the CD34-positive fibroblastic network encountered in neurofibromas was observed in 14/17 of the MPNST cases. The loss of H3K27me3 expression was observed in 82.6% (19/23) of the cases. Moreover, SDHA and SDHB losses were presented in one case. NGS revealed that NF1 gene loss of function (germline or somatic) were found in all 5 cases tested. Furthermore, four cases accompanied with somatic mutations of SUZ12 gene and half of them had somatic mutations of TP53 gene, while one case with germline mutation in SDHA gene and somatic mutations in FAT1, BRAF, and KRAS genes. Available clinical follow-up was obtained in 19 cases and ranged from 1 to 67 months. Four patients died of the disease, all of whom had the clinical history of neurofibromatosis type Ⅰ. Conclusions: MPNST is difficult to be differentiated from a variety of spindle cell tumors due to its wide spectrum of histological morphology and complex genetic changes. H3K27me3 is a useful diagnostic marker, while the loss of CD34 positive fibroblastic network can also be a diagnostic feature of MPNST. NF1 gene inactivation mutations and complete loss of PRC2 activity are the common molecular diagnostic features, but other less commonly recurred genomic aberrations might also contribute to the MPNST pathogenesis.

Female , Male , Humans , Child , Adolescent , Young Adult , Adult , Middle Aged , Aged , Neurofibrosarcoma , Neurofibromatosis 1 , Histones , Genes, p53 , Nerve Sheath Neoplasms
Rev. Bras. Cancerol. (Online) ; 69(2)abr.-jun. 2023.
Article in English | SES-SP, LILACS | ID: biblio-1512145


Introduction: Gastrointestinal stromal tumors (GIST), although relatively rare, account for 80% of mesenchymal tumors of the digestive tract. They manifest in any part of the alimentary tract and are derived from Cajal cells. They may occur sporadically or be associated with familial syndromes such as neurofibromatosis type I. The clinical picture is variable, and they are often diagnosed incidentally. The diagnosis requires imaging tests associated with histopathological and immunohistochemical analysis. The best strategy for treatment is surgical resection and cases should be analyzed individually to verify additional advantages with the association of systemic therapy. This study aims to present an unusual case of GIST associated with neurofibromatosis type I in a patient with incidental diagnosis after semi-intestinal occlusion secondary to an episode of pancreatitis, in addition to performing a literature review on the subject. Case report: A 49-year-old woman with a history of severe pancreatitis presented with intestinal obstruction approximately 8 months after this episode. Abdominal computed tomography revealed a heterogeneous formation in the mesogastric region, measuring 6.6 x 5.1 x 5.3 cm. She underwent surgical resection and histopathological and immunohistochemical studies confirmed the diagnosis of GIST. Six months after diagnosis, the patient is in good general condition and is on systemic therapy. Conclusion: GIST are rare tumors, but their diagnosis should come to mind in patients with neurofibromatosis type 1 with abdominal masses

Introdução: Os tumores do estroma gastrointestinal (GIST), embora relativamente raros, correspondem a 80% dos tumores mesenquimais do trato digestivo. Manifestam-se em qualquer parte do trato alimentar e são derivados das células de Cajal. Podem ocorrer de forma esporádica ou associados a síndromes familiares como a neurofibromatose tipo I. O quadro clínico é variável, sendo frequentemente diagnosticados de forma incidental. O diagnóstico requer realização de exames de imagem associados à análise histopatológica e imuno-histoquímica. A melhor estratégia para o tratamento é a ressecção cirúrgica e os casos devem ser analisados individualmente para verificar vantagens adicionais com a associação da terapia sistêmica. O objetivo deste trabalho é apresentar um caso incomum de GIST associado à neurofibromatose tipo I em uma paciente com diagnóstico incidental após semioclusão intestinal secundárias a episódio de pancreatite, além de realizar revisão de literatura sobre o assunto. Relato do caso: Mulher, 49 anos de idade,com passado de pancreatite grave,apresentou quadro de oclusão intestinal cerca de oito meses após esse episódio. A tomografia computadorizada de abdome revelou formação heterogênea em região mesogástrica, medindo 6,6 x 5,1 x 5,3 cm. Foi submetida à ressecção cirúrgica, e os estudos histopatológico e imuno-histoquímico corroboraram o diagnóstico de GIST. Seis meses após o diagnóstico, a paciente encontra-se em bom estado geral e em uso de terapia sistêmica. Conclusão: Os GIST são tumores raros, porémseu diagnóstico deve ser lembrado em pacientes com neurofibromatose tipo 1 apresentando massas abdominais

Introducción: Los tumores del estroma gastrointestinal (GIST), aunque relativamente raros, representan el 80% de los tumores mesenquimales del tubo digestivo. Se manifiestan en cualquier parte del tubo digestivo y se derivan de las células de Cajal. Pueden presentarse de forma esporádica o asociarse a síndromes familiares como la neurofibromatosis tipo I. El cuadro clínico es variable y con frecuencia su diagnóstico es incidental. El diagnóstico requiere pruebas de imagen asociadas al análisis histopatológico e inmunohistoquímico. La mejor estrategia de tratamiento es la resección quirúrgica y los casos deben analizarse individualmente para verificar ventajas adicionales con la asociación de terapia sistémica. El objetivo de este trabajo es presentar un caso inusual de GIST asociado a neurofibromatosis tipo I en un paciente con diagnóstico incidental tras una semioclusión intestinal secundaria a un episodio de pancreatitis, además de revisar la literatura sobre el tema. Informe del caso: Mujer de 49 años, con antecedente de pancreatitis severa, presentó oclusión intestinal aproximadamente ocho meses después de este episodio. La tomografía computarizada de abdomen reveló una formación heterogénea en la región mesogástrica, que medía 6,6 x 5,1 x 5,3 cm. Se le realizó resección quirúrgica y los estudios histopatológicos e inmunohistoquímicos corroboraron el diagnóstico de GIST. Seis meses después del diagnóstico, la paciente se encuentra en buen estado general y en tratamiento sistémico. Conclusión: Los GIST son tumores raros, pero su diagnóstico debe considerarse en pacientes con neurofibromatosis tipo 1 que presentan masas abdominales

Humans , Female , Middle Aged , Neurofibromatosis 1 , Gastrointestinal Stromal Tumors , Gastrointestinal Neoplasms
Chinese Journal of Medical Genetics ; (6): 1478-1483, 2023.
Article in Chinese | WPRIM | ID: wpr-1009325


OBJECTIVE@#To explore the types of NF1 gene variants and clinical characteristics among patients with Neurofibromatosis type I (NF1).@*METHODS@#Clinical data of 12 patients diagnosed at Ningbo Women and Children's Hospital between December 2019 and May 2022 were retrospectively analyzed. The probands and their family members were subjected to high-throughput sequencing, and candidate variants were verified by Sanger sequencing and chromosome microarray analysis.@*RESULTS@#The 12 patients had ranged from 4 months to 27 years old, with a male-to-female ratio of 2 : 1. Cafè-au-lait spots were found in all patients. 83.3% of them also had axillary and/or inguinal freckling, 58.3% had neurofibromas, and 16.7% had congenital pseudarthrosis of the tibia. Five types of NF1 gene variants were identified in the patients, including 5 nonsense variants, 4 frameshift variants, 1 missense variant, 1 splice variant, 1 large deletion involving the whole gene. Six patients were found to harbor de novo variants, 2 had inherited the variants from their parents, and 4 were not verified for their parental origin. The c.3379del (p.Thr1127Glnfs*15) and c.6628_6629del (p.Glu2210Thrfs*10) variants were unreported in literature and databases.@*CONCLUSION@#Most NF1 patients may present with Cafè-au-lait spots initially and are due to pathogenic variant of the NF1 gene. High-throughput sequencing can efficiently identify such variants among the patients and enable the definite diagnosis.

Child , Humans , Female , Male , Neurofibromatosis 1/diagnosis , Cafe-au-Lait Spots/diagnosis , Genes, Neurofibromatosis 1 , Retrospective Studies , Frameshift Mutation
Journal of the ASEAN Federation of Endocrine Societies ; : 114-119, 2023.
Article in English | WPRIM | ID: wpr-984400


@#A 16.5-year-old Indian female presented with secondary amenorrhoea, cubitus valgus, scoliosis and multiple lentigines on the face. Karyotyping revealed mosaic Turner syndrome (TS) with 45, X/46, X iXq. She also had multiple café-au-lait macules and axillary freckles but no neurofibroma and did not fulfil the classic criteria for diagnosis of Neurofibromatosis-1(NF1). Many of her macules were smaller than 15 mm in diameter, which might be due to her hypoestrogenic state. However, exome-sequencing found a pathologic variant consistent with NF1. She was started on daily oral estrogen, and oral progesterone for 10 days every month with close monitoring for neurofibroma and/or glioma expansion. Co-occurrence of NF1 and TS is extremely rare, TS and NF1 can both affect growth and puberty, cause different cutaneous and skeletal deformities, hypertension, vasculopathy and learning disabilities. Our case highlights the need for genetic testing in some cases with NF1 who do not strictly fulfil the NIH diagnostic criteria. We also emphasize the need for close monitoring during therapy with growth hormone, estrogen and progesterone due to the potential risk of tumour expansion in NF1.

Turner Syndrome , Neurofibromatosis 1
Rev. cuba. invest. bioméd ; 422023. ilus, tab
Article in Spanish | LILACS, CUMED | ID: biblio-1508226


Introducción: La neurofibromatosis tipo i es una enfermedad hereditaria, autosómica dominante, multisistémica, progresiva con penetrancia completa y expresividad variable. El análisis de las familias con marcadores moleculares permite realizar el diagnóstico por métodos indirectos. Objetivos: Estudiar dos familias cubanas con al menos un caso de neurofibromatosis tipo i e identificar los alelos resultantes del polimorfismo para el diagnóstico molecular. Métodos: Se realizó un estudio descriptivo a dos familias con al menos un caso de neurofibromatosis tipo i. Se extrajo el ADN con la técnica de precipitación salina y fue utilizada la reacción en cadena de la polimerasa para la amplificación del fragmento de interés. Se realizó la digestión enzimática con la enzima Rsai para analizar los alelos del polimorfismo estudiado y posteriormente hacer la electroforesis en gel de agarosa al 2 por ciento. Resultados: Las manifestaciones clínicas más frecuentes fueron las manchas color café con leche, pecas axilares e inguinales y lesiones óseas. Se detectaron los alelos 1 y 2 al analizar el polimorfismo en las muestras. Las frecuencias alélicas fueron 38,5 por ciento y 61,5 por ciento respectivamente. Conclusiones: Fueron identificadas las principales manifestaciones clínicas en los pacientes. La técnica para el análisis del polimorfimo permitió el estudio molecular en las familias con neurofibromatosis tipo i. Se detectaron los alelos del marcador molecular y sus frecuencias. Se realizó el diagnóstico molecular de los individuos sospechosos (AU)

Introduction: Neurofibromatosis type i is a hereditary, autosomal dominant, multisystemic, progressive disease with complete penetrance and variable manifestation. The analysis of families with molecular markers allows diagnosis by indirect methods. Objectives: To study two Cuban families with at least one case of neurofibromatosis type i and to identify the alleles resulting from the polymorphism for molecular diagnosis. Methods: A descriptive study of two families with at least one case of neurofibromatosis type i was performed. DNA was extracted with the saline precipitation technique and polymerase chain reaction was used for amplification of the fragment of interest. Enzymatic digestion was performed with the RsaI enzyme to analyze the alleles of the polymorphism studied and then to perform electrophoresis in 2 percent agarose gel. Results: The most frequent clinical manifestations were café-au-lait spots, axillary and inguinal freckles and bone lesions. Alleles 1 and 2 were detected when analyzing the polymorphism in the samples. The allele frequencies were 38.5 percent and 61.5 percent respectively. Conclusions: The main clinical manifestations in patients were identified. The technique for polymorphism analysis allowed the molecular study in the families with neurofibromatosis type i. The alleles of the molecular marker and their frequencies were detected. Molecular diagnosis of suspected individuals was performed (AU)

Humans , Male , Female , Adult , Middle Aged , Clinical Diagnosis/diagnosis , Neurofibromatosis 1/diagnosis , Cafe-au-Lait Spots , Polymerase Chain Reaction/methods , Epidemiology, Descriptive , Clinical Study
Rev. otorrinolaringol. cir. cabeza cuello ; 82(2): 203-206, jun. 2022. ilus
Article in Spanish | LILACS | ID: biblio-1389839


Resumen El neurofibroma laríngeo es poco frecuente, representa menos del 0,1% de las neoplasias benignas de la laringe. Puede presentarse aislado, o más comúnmente asociado a neurofibromatosis tipo I. Se presenta el caso de un paciente varón de 40 años, ya diagnosticado de neurofibromatosis tipo I, que presenta masa supraglótica submucosa asintomática, diagnosticada como hallazgo casual en una intubación por una cirugía previa programada.

Abstract Laryngeal neurofibroma is rare, representing less than 0.1% of benign tumors of the larynx. It can occur in isolation or more commonly associated with type I neurofibromatosis. The case of a 40-year-old male patient, already diagnosed with type I neurofibromatosis, is presented with an asymptomatic submucosal supraglottic mass, diagnosed as a chance finding in intubation due to a previous scheduled surgery.

Humans , Male , Adult , Laryngeal Neoplasms/surgery , Laryngeal Neoplasms/diagnostic imaging , Neurofibromatosis 1/diagnostic imaging , Larynx/surgery , Magnetic Resonance Imaging/methods , Laser Therapy/methods
Odontoestomatol ; 24(39): 1-13, 2022.
Article in Spanish | LILACS, BNUY-Odon, BNUY | ID: biblio-1370316


Este trabajo tiene como objetivo relatar el abordaje individualizado, inclusivo y humanizado de un niño de 4 años y tres meses, con diagnóstico de neurofibromatosis tipo 1, atendido en la Carrera de Especialización en Odontopediatría de la Escuela de Graduados, Facultad de Odontología, Universidad de la Repú blica, Montevideo, Uruguay. En el examen clínico se pudo observar cicatrices derivadas del tratamiento quirúrgico del neurofibroma plexiforme en la zona cervical y la presencia de hipotonicidad muscular oral. Al examen clínico intraoral, se observaron amplias zonas desdentadas a consecuencia de exodoncias de quince dientes deciduos. Presentaba lesiones activas de caries en los dientes remanentes, acompañado de biopelícula generalizada y sangrado gingival provocado. Se realizó un abordaje integral del paciente y la terapia rehabilitadora mediante el uso de prótesis parcial removible superior e inferior. Concluímos que el tratamiento odontológico educativo, preventivo, restaurador y rehabilitador fue satisfactorio y la empatía, como proceso dinámico, involucró mecanismos cognitivos, afectivos y conductuales, y fue reconocida por sus efectos positivos en la promoción de la salud bucal del paciente.

Este trabalho tem como objetivo relatar uma abordagem odontológica individualizada, inclusiva e humanizada, enfatizando a importância do tratamento de uma criança de 4 anos e três meses, com diagnóstico de neurofibromatose tipo 1, que foi encaminhada e tratada en la clínica de la Carrera de Especialización en Odontopediatria de la Escuela de Graduados, Facultad de Odontología, Universidad de la República. O exame clínico revelou cicatrizes decorrentes do tratamento cirúrgico do neurofibroma plexiforme que acometia o pescoço da criança e hipotonicidade muscular oral. Ao exame clínico intraoral, quinze dentes decíduos estavam ausentes e cinco com lesões de cárie na primeira infância, além de presença generalizada de biofilme microbiano nas superfícies dentais e sangramento gengival provocado. Foi realizado tratamento odontológico necessário ao paciente, com os devidos cuidados e terapia reabilitadora com prótese parcial removível superior e inferior. Concluímos que o tratamento odontológico educacional, preventivo, restaurador e reabilitador foi satisfatório e a empatia, como processo dinâmico, envolveu mecanismos cognitivos, afetivos e comportamentais e foi reconhecida por seus efeitos positivos na promoção da saúde bucal do paciente.

This paper aims to report an individualized, inclusive, and humanized dental approach, emphasizing the importance of treating a child aged four years and three months with neurofibromatosis type 1. The patient was referred and treated at the Clinic of the Specialization Course in Pediatric Dentistry of the Graduate School, School of Dentistry, Universidad de la República, Montevideo, Uruguay. The clinical examination revealed scars from the surgical treatment of the plexiform neurofibroma and neck and oral muscle hypotonicity. The intraoral clinical examination showed large edentulous areas as 15 deciduous teeth were missing. The patient had active carious lesions, generalized microbial biofilm on the tooth surfaces, and gingival bleeding. A comprehensive treatment was provided, as well as restorative therapy with upper and lower removable partial dentures. We conclude that the dental educational, preventive, restorative, and rehabilitation treatment was satisfactory. Furthermore, empathy, as a dynamic process, involved cognitive, affective, and behavioral mechanisms. It also helped enhance the patient's oral health.

Humans , Male , Child, Preschool , Jaw, Edentulous, Partially/complications , Neurofibromatosis 1/complications , Dental Caries/complications , Humanization of Assistance , Jaw, Edentulous, Partially/therapy , Dental Caries/therapy , Denture, Partial, Removable
Rev. Hosp. Clin. Univ. Chile ; 33(1): 21-27, 2022. tab, ilus
Article in Spanish | LILACS | ID: biblio-1401531


Neurofibromatosis type 1 (NF1) is the most common neurocutaneous syndrome. Diagnosis is based on clinical findings that meets the criteria developed by the NIH in 1997, which remain highly sensitive and specific in adults, but not in children, in which the manifestations vary with age. In children under 2 years in the pretumoral stage with a negative family history, it would be useful to have additional clinical diagnostic criteria. Genetic testing is not widely available and although café-au-lait spots remain the cardinal and most frequent clinical sign, they cannot make the diagnosis of NF-1 on their own. (AU)

Humans , Male , Child, Preschool , Adolescent , Neurofibromatosis 1/diagnosis , Neurofibromatosis 1/genetics , Neurofibromatosis 1/pathology , Cafe-au-Lait Spots/diagnosis , Cafe-au-Lait Spots/pathology
An. bras. dermatol ; 96(4): 487-489, July-Aug. 2021. tab, graf
Article in English | LILACS | ID: biblio-1285103


Abstract Neurofibromatosis is a common genodermatosis, whose diagnosis often involves the participation of a dermatologist. A case of a 38-year-old female patient with four café-au-lait macules and eleven neurofibromas on clinical examination is presented. Dermoscopy allowed the identification of Lisch nodules in the iris, bilaterally. The combination of these findings allowed the diagnosis of neurofibromatosis type 1, according to NIH criteria. Lisch nodules are melanocytic hamartomas of the iris, which must be evaluated through a visual augmentation method, usually employed in ophthalmology. Alternatively, dermoscopy can be used and contribute to the early diagnosis of neurofibromatosis type 1.

Humans , Female , Adult , Neurofibromatosis 1/diagnostic imaging , Hamartoma , Iris , Cafe-au-Lait Spots/diagnosis , Dermoscopy
Arq. bras. neurocir ; 40(1): 107-112, 29/06/2021.
Article in English | LILACS | ID: biblio-1362261


Neurofibromatosis type 1 (NF1) is a genetic syndrome which typically presents with neurological manifestations. Some of the patients may also present with vasculopathies, among which arterial aneurysms and stenosis are the most common. Deep vein thrombosis (DVT) has rarely been described, and, to the best of our knowledge, the present is the first report of DVT due to venous compression by a neurofibroma in the setting of NF1. This is the case of a 23-year-old male with NF1 who experienced DVT due to compression of the left posterior tibial veins by a large tumor arising from the tibial nerve. The DVT was acutely treated with enoxaparin and then with rivaroxaban. Two months after the diagnosis, Doppler ultrasonography showed partial recanalization and persistence of the DVT. The patient was then referred to neurosurgery for surgical resection of the tumor. There were no complications during the procedure, and the patient did not present postoperative neurological deficits. The final histopathological diagnosis was of a benign neurofibroma. After one year of follow-up with vascular surgery, the patient presented no more episodes of DVT. In case there is a tumor compressing the deep vessels of the leg and promoting DVT, surgical resection with microsurgical techniques may be curative.

Humans , Male , Young Adult , Neurofibromatosis 1/surgery , Neurofibromatosis 1/complications , Venous Thrombosis/etiology , Venous Thrombosis/drug therapy , Neurofibromatosis 1/diagnostic imaging , Enoxaparin/therapeutic use , Ultrasonography, Doppler/methods , Venous Thrombosis/diagnostic imaging , Rivaroxaban/therapeutic use , Neurofibroma/surgery
Acta Academiae Medicinae Sinicae ; (6): 840-844, 2021.
Article in Chinese | WPRIM | ID: wpr-921547


Gastrointestinal stromal tumors(GISTs)in the stomach,duodenum,and rectum have low occurrence,and the coexistence GISTs in three parts with neurofibromatosis type Ⅰ(NF-Ⅰ)is even rare.This paper reports a case of GISTs with a family history of NF-Ⅰ.There were multiple nodular masses of different sizes on the patient's face,trunk,and limbs.The patient was admitted due to chest tightness for 5 days and black stools for 1 day.Enhanced CT examination of the abdomen suggested multiple space-occupying lesions in the upper abdomen with multiple small nodules under the abdominal wall,and neurofibromatosis and intestinal stromal tumor cannot be excluded.Finally,surgical pathology confirmed that the multiple tumors in the abdominal cavity were GISTs.The case was confirmed as wild-type GISTs by genetic testing,and the patient recovered well nearly one year after the operation.

Humans , Gastrointestinal Stromal Tumors/genetics , Neurofibromatosis 1/genetics
Chinese Medical Journal ; (24): 1983-1987, 2021.
Article in English | WPRIM | ID: wpr-887638


BACKGROUND@#Scoliosis secondary to neurofibromatosis type 1 (NF1) in children aged 10°/year) were identified. The age at modulation and the AV before and after modulation were obtained. Patients with (n = 18) and without rapid curve progression (n = 10) were statistically compared.@*RESULTS@#Twenty-eight patients with a mean age of 6.5 ± 1.9 years at the initial visit were reviewed. The mean Cobb angle of the main curve was 41.7° ± 2.4° at the initial visit and increased to 67.1° ± 8.6° during a mean follow-up of 44.1 ± 8.5 months. The overall AV was 6.6° ± 2.4°/year for all patients. At the last follow-up, all patients presented curve progression of >5°, and 20 (71%) patients had progressed by >20°. Rapid curve progression was observed in 18 (64%) patients and was associated with younger age at the initial visit and a higher incidence of modulation change during follow-up (t = 2.868, P = 0.008 and 10°/year is associated with younger age at the initial visit, and modulation change indicated the occurrence of the rapid curve progression phase.

Child , Child, Preschool , Humans , Braces , Disease Progression , Neurofibromatosis 1/complications , Retrospective Studies , Scoliosis/diagnostic imaging , Treatment Outcome
Frontiers of Medicine ; (4): 933-937, 2021.
Article in English | WPRIM | ID: wpr-922509


Neurofibromatosis (NF) is a genetic disease in which the lungs are rarely involved. However, in NF cases with lung involvement, chest computed tomography may show bilateral basal reticulations, apical bullae, and cysts without bronchiectasis. Herein, we report a patient diagnosed with NF on the basis of the results of genetic testing who presented with early-onset wet cough and bronchiectasis. Considering the differential diagnosis of bronchiectasis combined with his early-onset wet cough, sinusitis, and sperm quality decline, we considered the possibility of primary ciliary dyskinesia (PCD). Further electron microscopy analysis of cilia and identification of homozygous mutations in the RSPH4A gene confirmed the diagnosis of PCD. Therefore, for patients with NF, when an image change exists in the lungs that does not correspond to NF, the possibility of other diagnoses, including PCD, must be considered.

Humans , Cilia , Kartagener Syndrome/genetics , Microscopy, Electron , Mutation , Neurofibromatosis 1/genetics
Chinese Journal of Medical Genetics ; (6): 1216-1219, 2021.
Article in Chinese | WPRIM | ID: wpr-922027


OBJECTIVE@#To explore the genetic basis for a Chinese pedigree affected with neurofibromatosis type I (NF1).@*METHODS@#Target capture high-throughput sequencing and Sanger sequencing were carried out to detect the pathological variant in a NF1 patient and his parents.@*RESULTS@#The proband and his similarly affected father have both harbored a novel nonsense variant of c.2511G>A (p.trp837x) in the NF1 gene. The same variant was not found in his mother and 200 healthy controls.@*CONCLUSION@#The heterozygous nonsense variant of c.2511G>A (p.trp837x) of the NF1 gene probably underlay the pathogenesis of NF1 in this pedigree.

Humans , China , Heterozygote , Mutation , Neurofibromatosis 1/genetics , Pedigree
Chinese Journal of Medical Genetics ; (6): 1120-1122, 2021.
Article in Chinese | WPRIM | ID: wpr-922010


OBJECTIVE@#To explore the genetic basis for a patient with clinically suspected neurofibromatosis type I, alopecia areata and vitiligo.@*METHODS@#Variant of the NF1 gene was detected by chip capture and high-throughput sequencing. Candidate variant was verified by Sanger sequencing of the family trio.@*RESULTS@#The patient was found to harbor a novel missense c.1885G>A (p.Gly629Arg) variant of the NF1 gene, for which neither parent was carrier. The variant was not recorded in the public database. Based on the guidelines for genetic variation of the American College of Medical Genetics and Genomics, the c.1885G>A missense variant was predicted to be pathogenic (PS1+PS2+PM2+PP3+PP4).@*CONCLUSION@#The c.1885G>A missense variant probably underlay the disease in this child. Above finding has enriched the spectrum of the NF1 gene variants.

Child , Humans , Alopecia Areata/genetics , Genomics , Mutation , Neurofibromatosis 1/genetics , Vitiligo/genetics