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2.
Rev. bras. cir. plást ; 39(1): 1-5, jan.mar.2024. ilus
Artigo em Inglês, Português | LILACS-Express | LILACS | ID: biblio-1552841

RESUMO

A neurofibromatose tipo 1 (NF1) é um distúrbio neurocutâneo hereditário no qual se formam tumores no sistema nervoso (neurofibromas). Os neurofibromas são os tumores benignos mais comuns na NF1. O tipo, o tamanho, o número e a localização dos neurofibromas devem ser considerados para a escolha do tratamento. Apresentamos um caso de NF1, no qual foi realizada uma ampla ressecção do couro cabeludo devido à presença de múltiplos neurofibromas. Associado a isso, a reconstrução foi realizada com retalhos de avanço mais autoenxerto de pele parcial, com resultados favoráveis e boa cobertura das áreas onde os tumores foram removidos.


Neurofibromatosis type 1 (NF1) is an inherited neurocutaneous disorder in which tumors form in the nervous system (neurofibromas). Neurofibromas are the most common benign tumors in NF1. The type, size, number, and location of the neurofibromas should be considered for the choice of treatment. We present a case of NF1, in which a wide scalp resection was performed due to the presence of multiple neurofibromas. Associated with this, reconstruction was performed with advancement flaps plus partial skin autograft with favorable results and good coverage of the areas where the tumors were removed.

3.
Chinese Journal of Reparative and Reconstructive Surgery ; (12): 1-8, 2024.
Artigo em Chinês | WPRIM | ID: wpr-1009100

RESUMO

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.


Assuntos
Humanos , Neurofibromatose 1/patologia , Neurofibromina 1/metabolismo , Proteínas Ativadoras de GTPase , Mutação , Predisposição Genética para Doença , Terapia Genética
4.
Bénin Médical ; 69: 52-55, 2024. figures, tables
Artigo em Francês | AIM | ID: biblio-1554720

RESUMO

La neurofibromatose de type 1 ou maladie de Von Recklinghausen, maladie héréditaire la plus fréquente parmi les phacomatoses, caractérisée par la présence d'au moins deux critères diagnostiques, dont le neurofibrome. Nous rapportons le cas d'un patient de 37 ans, contact direct d'un patient tuberculeux, atteint de neurofibromatose dont la radiographie pulmonaire mimait des images en « lâcher de ballon ¼ coexistant avec une tuberculose pulmonaire. Nous insistons à travers ce cas et à la lumière d'une revue de la littérature sur l'importance d'avoir un esprit critique et un raisonnement diagnostic médical devant toute image ne correspondant pas à l'indication clinique.


Neurofibromatosis type 1 or Von Recklinghausen disease, most common hereditary disease of phacomatosis, which is characterized by the presence of at least two diagnostic criteria, including neurofibroma. We report the case of a 37-year-old patient, direct contact of a tuberculosis patient, suffering from neurofibromatosis whose chest X-ray mimicked images of "balloon release" coexisting with pulmonary TBC. We insist through this observation and in the light of a literature review on the importance of having a critical mind and medical diagnostic reasoning in front of any image that does not match the clinical indication.


Assuntos
Humanos , Feminino , Adulto
5.
Arch. argent. pediatr ; 121(3): e202202782, jun. 2023. ilus
Artigo em Inglês, Espanhol | LILACS, BINACIS | ID: biblio-1437252

RESUMO

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


Assuntos
Humanos , Masculino , Lactente , Neurofibromatose 1/complicações , Neurofibromatose 1/diagnóstico , Neurofibromatose 1/patologia , Neurofibroma Plexiforme/cirurgia , Neurofibroma Plexiforme/complicações , Neurofibroma Plexiforme/diagnóstico , Laringe/patologia , Sons Respiratórios/etiologia , Endoscopia
6.
Rev. bras. cir. plást ; 38(2): 1-5, abr.jun.2023. ilus
Artigo em Inglês, Português | LILACS-Express | LILACS | ID: biblio-1443609

RESUMO

Introduction: Neurofibromatosis is an autosomal dominant disorder, and type 1 is associated with an increased risk of tumor formation with neurocutaneous involvement. The variable evolution, often with limiting tumors, in addition to the significant incidence of cases requiring treatment, makes it fundamental to discuss procedures already performed in medical practice for early, careful, and individualized recognition of the diagnosis and treatment of the patient. The report aims to present a surgical case of neurofibromatosis, calling attention to the surgical technique, the characteristics of the disease, and the importance of the procedure in the quality of life of patients limited by the condition. Case Report: A 23-year-old male patient with a large mass neurofibroma in the gluteus and posterior surface of the right leg, in addition to café au lait stains in the distal third of the legs. He was treated with surgery to remove the tumor and a flap and graft in the affected region. The procedures were performed by a multidisciplinary team, allowing the total removal of the tumor mass, with subsequent skin grafting in the hip and thigh lesion on the right side and the fasciocutaneous flap in VY in the area. There were no significant complications in the immediate postoperative period. Conclusion: Neurofibromas can become limiting and impair patients' quality of life with neurofibromatosis type 1; therefore, early management and diagnosis are essential. Although the condition does not present a cure, there is a need for research into less invasive and preventive treatments for injuries.


Introdução: A neurofibromatose é um distúrbio autossômico dominante e o tipo 1 está associado a um aumento do risco de formação de tumores com acometimento neurocutâneo. A evolução variável, muitas vezes com tumorações limitantes, além da incidência significativa de casos que necessitam de tratamento, torna fundamental a discussão de condutas já realizadas na prática médica para um reconhecimento precoce, cuidadoso e individualizado do diagnóstico e do tratamento do enfermo. O relato objetiva apresentar um caso cirúrgico de neurofibromatose, chamando atenção para a técnica cirúrgica, as características da doença e a importância do procedimento na qualidade de vida de pacientes limitados pela afecção. Relato de Caso: Paciente de 23 anos, sexo masculino, com neurofibroma de grande massa em glúteo e face posterior da perna direita, além de manchas café com leite em terço distal de pernas. Foi tratado com uma cirurgia de retirada do tumor, além de retalho e enxerto na região acometida. Os procedimentos foram realizados por equipe multidisciplinar, possibilitando a retirada total da massa tumoral, com posterior realização de enxerto de pele na lesão do quadril e coxa em lado direito, e o retalho fasciocutâneo em V-Y na área. Não houve complicações significativas nos pós-operatórios imediatos.

7.
Rev. ADM ; 80(3): 160-164, mayo-jun. 2023. ilus
Artigo em Espanhol | LILACS | ID: biblio-1518264

RESUMO

Los neurofibromas solitarios han sido reportados en la literatura, pero son casos muy raros; por definición se presentan en pacientes que no tienen enfermedad de Von Recklinghausen, que se hereda en forma autosómica dominante, y se presenta con mayor frecuencia en hombres. Es un tumor benigno que puede presentarse solitario o múltiple; su aparición en la cavidad oral suele ser muy rara, pero su sitio de predilección es la lengua, seguido de la mucosa alveolar, paladar y encía gingival. Aparecen con más frecuencia durante la tercera década de vida, aunque se describen casos desde los 10 meses hasta los 70 años de edad. En este reporte se expondrá el caso clínico de un paciente de sexo femenino, de 17 años de edad, que acudió a consulta a la clínica dental centenario por presentar una lesión superior que cubría parte de las coronas anatómicas en piezas dentales del maxilar superior izquierdo, además, en el reporte de estudio inmunoquimicohistológico se diagnosticó neurofibroma, con expresión de S-100. Consideramos de suma importancia el reconocimiento de estos crecimientos intraorales para lograr establecer un diagnóstico definitivo cierto y veraz de la situación (AU)


Solitary neurofibromas have been reported in the literature, but they are very rare cases. By definition they occur in patients who do not have Von Recklinghausen disease, which is inherited in an autosomal dominant manner; It occurs more frequently in men. It is a benign tumor that can appear solitary or multiple. Its appearance in the oral cavity is usually very rare, but its site of preference is the tongue, followed by the alveolar mucosa, palate, and gingival gingiva. They appear more frequently during the third decade of life, although cases from 10 months to 70 years of age are described. This report will present the clinical case of a 17-year-old female patient who came to the Centennial Dental Clinic for consultation presenting an elevated lesion covering part of the anatomical crowns in dental pieces in the left upper jaw and in the report. Neurofibroma was diagnosed from the Immunochemicalhistological study, with S-100 expression. We consider the recognition of these intraoral growths of utmost importance in order to establish a true and truthful definitive diagnosis of the situation (AU)


Assuntos
Humanos , Feminino , Adolescente , Maxila/patologia , Biópsia/métodos , Imuno-Histoquímica , Proteínas S100 , Técnicas Histológicas
8.
Medisur ; 21(3)jun. 2023.
Artigo em Espanhol | LILACS-Express | LILACS | ID: biblio-1448677

RESUMO

La neurofibromatosis tipo I o enfermedad de Von Recklinghausen es una de las enfermedades genéticas que afectan el sistema nervioso, denominada así por su origen común embrionario. Es una enfermedad autosómica dominante, progresiva, de evolución impredecible, que afecta la piel y el sistema nervioso central y periférico. Se presenta el caso de una escolar, femenina, de siete años de edad que ingresó en el Hospital Pediátrico Paquito Gonzáles Cueto debido a la presencia de varias manchas en la piel color "café con leche". Se recogió como antecedente familiar la presencia de neurofibromatosis tipo 1 en la abuela y bisabuela materna, esta última ya fallecida por dicha causa. Al examen físico se constataron nódulos de Lisch en espesor del iris del ojo izquierdo. Los estudios de imágenes evidenciaron varias lesiones nodulares hiperintensas en T2 y FLAIR, a nivel de la cápsula interna y externa bilateral y ventricular izquierda, la mayor de 20 x 11 mm, así como imagen hipointensa a nivel del nervio óptico izquierdo, de 7 mm. Se diagnosticó como neurofibromatosis tipo I. Por ser una de las enfermedades menos estudiadas en nuestro medio se decidió la publicación de este caso.


Neurofibromatosis type I or Von Recklinghausen's disease is one of the genetic diseases that affect the nervous system, named for its common embryonic origin. It is an autosomal dominant, progressive disease with an unpredictable course that affects the skin and the central and peripheral nervous system. The case of a seven-year-old female schoolchild who was admitted to the Paquito Gonzáles Cueto Pediatric Hospital due to the presence of several "coffee-with-milk" spots on her skin is presented. The presence of type 1 neurofibromatosis in her maternal grandmother and great-grandmother, the latter already deceased from said cause, was collected as a family history. On physical examination, Lisch nodules were found in the thickness of the iris of the left eye. Imaging studies revealed several hyperintense nodular lesions on T2 and FLAIR, at the level of the internal and external bilateral and left ventricular capsule, the largest measuring 20 x 11 mm, as well as a hypointense image at the level of the left optic nerve, measuring 7 mm. It was diagnosed as neurofibromatosis type I. Because it is one of the least studied diseases in our environment, it was decided to publish this case.

9.
Rev. gastroenterol. Perú ; 43(2)abr. 2023.
Artigo em Espanhol | LILACS-Express | LILACS | ID: biblio-1450020

RESUMO

Presentamos el caso de un paciente masculino de 32 años con antecedente de Neurofibromatosis tipo 1, que se presenta por hemorragia de intestino delgado activo, diagnosticada inicialmente al observar sangrado en ileoscopía, al cursar con inestabilidad hemodinámica se realiza angiotomografía abdominal identificando a nivel de yeyuno medio una masa con captación de contraste y sangrado activo por lo cual se realiza una angiografía con embolización arterial de la rama que irriga dicha zona. Con el paciente estable, se realizó una enteroscopía anterógrada de doble balón, observando una lesión subepitelial, ulcerada, se realiza tatuaje endoscópico y finalmente se envía a cirugía para resección mediante laparoscopia. El estudio anatomopatológico fue compatible con un tumor estromal gastrointestinal (GIST) yeyunal.


We present the case of a 32-year-old male patient with a history of Neurofibromatosis type 1, who presented with active small bowel bleeding, initially diagnosed by observing bleeding in ileoscopy, presenting with hemodynamic instability, abdominal angiotomography was performed, identifying a mass with contrast enhancement and active bleeding at the middle jejunum level, for which an angiography with arterial embolization of the branch that supplies said area is performed. With the patient stable, a double-balloon antegrade enteroscopy was performed, observing a subepithelial, ulcerated lesion, endoscopic tattooing was performed and finally surgery was sent for resection by laparoscopy. The pathology study was compatible with a jejunal gastrointestinal stromal tumor (GIST).

10.
JOURNAL OF RARE DISEASES ; (4): 210-230, 2023.
Artigo em Inglês | WPRIM | ID: wpr-1005076

RESUMO

@#Neurofibromatosis type 1(NF1) is an autosomal dominant hereditary neoplastic disease caused by mutations in the <i>NF1</i> gene. Features of disorder typically appear in early childhood. The clinical phenotypes of the patients are diverse but neurofibromas is the main feature. Patients with NF1 also suffer from multi-system involvement and have high risk of malignant tumor. NF1 poses significant challenges for diagnosis, treatment, follow-up and patients management. Therefore, it is imperative to develop a multidisciplinary collaborative diagnosis and treatment protocol. Under the leadership of China Alliance for Rare Diseases, a multidisciplinary diagnosis and treatment collaborative team for NF1 has been formed and worked out the guideline. This guideline intends to lift the diagnosis and treatment level for NF1 and to provide the guideline for standardized treatment for NF1 patients in China.

11.
JOURNAL OF RARE DISEASES ; (4): 186-190, 2023.
Artigo em Inglês | WPRIM | ID: wpr-1005074

RESUMO

A 3-year-old male patient was diagnosed with neurofibromatosis type 1(NF1) for two years. The patient has multiple neurofibromas in retroperitoneum, lumbococcygeal paravertebral, lumbosacral spinal canal, and foramina. Due to retroperitoneal mass compression, the child suffered from urological complications such as hydronephrosis, ureterdilation, neurogenic bladder, etc., which seriously affected the urination function and resulted in multiple surgical treatments. Currently, the patient has been treated with mitogen activates extracelluar signal-regulated kinases(MEK) inhibitor selumetinib targeted therapy, and has voluntarily urinated, and his general state is better than before medication. The diagnosis and treatment of this case reflects the importance of multidisciplinary collaboration in the diagnosis and treatment of rare diseases.

12.
JOURNAL OF RARE DISEASES ; (4): 539-546, 2023.
Artigo em Inglês | WPRIM | ID: wpr-1004930

RESUMO

  Objective  To evaluate the clinical outcomes and complications of posterior spinal fusion surgery in the treatment of neurofibromatosis type 1(NF1)thoracolumbar kyphoscoliosis, and to explore the mode of perioperative care for nurses provided to the patients.  Methods  We used the retrospective analysis on the 134 patients with NF1 thoracolumbar kyphoscoliosis admitted to our department from March 2012 to April 2022 and analyzed the clinical outcomes and perioperative complications by using the related statistics. We evaluated the Perioperative care by the nurses in the treatment of NF1 to explore the mode of nursing to the patients with the NF1, by using specific observation points and evaluation indicators.  Results  NF1 kyphoscoliosis patients had poor preoperative nutritional status and lung function. NF1 kyphoscoliosis underwent longer operation time, lost more blood in operation, had higher osteotomy grade and more postoperative complications. All the patients successfully completed the operation in our group. The correction rate of scoliosis was (52.8±22.7)%, and the correction rate of kyphosis was (57.3±34.6)%. 25 patients had complications but no such serious complications as nerve damage.  Conclusions  The practice of the perioperative nursing to NF1 type scoliosis patients facilitates the shortening of the recovery period, the prevention or timely detection of complications, and improvement of the therapeutic effect.

13.
China Tropical Medicine ; (12): 672-2023.
Artigo em Chinês | WPRIM | ID: wpr-979786

RESUMO

@#Abstract: Objective To report the clinical characteristics and genetic test results of two children with neurofibromatosis type 1 (NF1), and to provide reference for the comprehensive diagnosis-treatment and follow-up plans of NF1 patients based on the existing diagnosis and treatment progress of NF1. Methods Two children with NF1 admitted to the Department of Children's Medicine, Haikou people's Hospital in May and June 2022 were selected to analyze the clinical data of their clinical manifestations, laboratory examination, genetic test results, diagnosis and treatment and follow-up retrospectively. Results Two children had typical clinical manifestations, such as café-au-lait spots, axillary freckles, intraocular iris hamartoma. Venous blood was collected from case 1 and his parents for NF gene test, and a new mutation of c.4084C>T in the NF1 gene was found, and their parents did not have the pathogenic gene; the venous blood of the children in case 2 was tested for whole-exome gene analysis, and a heterozygous nonsense variant c.910C>T:p.R304 on the NF1 gene was found, , which was verified by Sanger sequencing to be inherited from his mother, his mother has café-au-lait spots and brain glioma, and has undergone surgery to remove the brain glioma, but has not undergone chemoradiotherapy or targeted therapy. No neurological malignancies were detected in either of the two children at follow-up until July 2022. Conclusions The clinical manifestations of NF1 are relatively typical, genetic testing is conducive to determine its classification, and regular follow-up review can help to detect and treat malignant tumors early, thus improving the patient's quality of life.

14.
Journal of the ASEAN Federation of Endocrine Societies ; : 114-119, 2023.
Artigo em Inglês | WPRIM | ID: wpr-984400

RESUMO

@#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.


Assuntos
Síndrome de Turner , Neurofibromatose 1
15.
J. vasc. bras ; 22: e20220118, 2023. graf
Artigo em Inglês | LILACS-Express | LILACS | ID: biblio-1440483

RESUMO

Abstract Neurofibromatosis Type 1 (NF1) is a rare cause of ischemic stroke (IS) in the general population. We report a case of a young patient with NF1 in whom IS was caused by fibromuscular dysplasia. An angiographic study demonstrated occlusion in the right internal carotid artery (ICA), just after its origin, and the left ICA, just before the intracranial portion, and brain magnetic resonance imaging showed the limits of an area of brain infarction in the right frontoparietal region. Despite these concomitant neuroimaging findings, this association is rare, and it is difficult to establish the contribution to the outcome made by each of these diseases, which treatment is the best to implement, or what prognosis is.


Resumo A neurofibromatose tipo 1 (NF1) é uma causa rara de acidente vascular cerebral isquêmico (AVCi) na população geral. Neste estudo, relatamos o caso de um paciente jovem com AVCi, com diagnóstico de NF1 associada a displasia fibromuscular. O estudo angiográfico demonstrou oclusão da carótida interna direita, logo após sua origem, e esquerda, antes da porção intracraniana. A ressonância magnética do encéfalo mostrou delimitação de um infarto na região frontoparietal direita. Apesar desses achados concomitantes na neuroimagem, essa associação é rara, sendo difícil de estabelecer a contribuição de cada uma dessas doenças no desfecho, tampouco qual o melhor tratamento a ser implementado e qual o prognóstico.

16.
Braz. j. otorhinolaryngol. (Impr.) ; 89(6): 101313, Jan.-Feb. 2023. tab, graf
Artigo em Inglês | LILACS-Express | LILACS | ID: biblio-1528118

RESUMO

Abstract Objective: To review the literature on the diagnosis and treatment of vestibular schwannoma. Methods: Task force members were educated on knowledge synthesis methods, including electronic database search, review and selection of relevant citations, and critical appraisal of selected studies. Articles written in English or Portuguese on vestibular schwannoma were eligible for inclusion. The American College of Physicians' guideline grading system and the American Thyroid Association's guideline criteria were used for critical appraisal of evidence and recommendations for therapeutic interventions. Results: The topics were divided into 2 parts: (1) Diagnosis - audiologic, electrophysiologic tests, and imaging; (2) Treatment - wait and scan protocols, surgery, radiosurgery/radiotherapy, and systemic therapy. Conclusions: Decision making in VS treatment has become more challenging. MRI can diagnose increasingly smaller tumors, which has disastrous consequences for the patients and their families. It is important to develop an individualized approach for each case, which highly depends on the experience of each surgical team.

17.
Rev. cuba. invest. bioméd ; 422023. ilus, tab
Artigo em Espanhol | LILACS, CUMED | ID: biblio-1508226

RESUMO

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)


Assuntos
Humanos , Masculino , Feminino , Diagnóstico Clínico/diagnóstico , Neurofibromatose 1/diagnóstico , Epidemiologia Descritiva , Manchas Café com Leite
18.
Artigo em Espanhol | LILACS-Express | LILACS | ID: biblio-1421725

RESUMO

Introducción: El neurofibroma corresponde a un tumor benigno que compromete la vaina neural del tejido nervioso, asociándose íntimamente a la neurofibromatosis. Debido al compromiso de nervios periféricos y/o centrales, su expresión clínica es muy variada producto de la compresión y/o desplazamiento de estructuras vecinas dificultando así su diagnóstico. Objetivo: El objetivo de este artículo, es el de realizar una revisión de la literatura en relación con la neurofibromatosis y sus manifestaciones en el territorio máxilofacial en conjunto con la presentación de un caso de hipercondilismo mandibular asociado a un neurofibroma en la región de la articulación temporomandibular en un paciente con antecedentes de neurofibromatosis. Métodos: Se presenta el caso de un paciente con laterognasia y antecedentes de Neurofibromatosis tipo I (NF1). Por medio de estudio imagenológico, se confirma Hipercondilismo derecho y presencia de una zona radiolúcida relacionada con el cuello del cóndilo comprometido, cuyo resultado histopatológico confirmo el diagnóstico de neurofibroma. Conclusiones: Existe una muy variada clínica en pacientes con NF1, presentando una predisposición a la formación de neurofibromas y alteraciones oseas que pudiesen comprometer el territorio máxilofacial y causar asimetrías faciales. Debido a esto, resulta imprescindible tener conocimiento y consideración de ambas patologías para una correcta planificación del tratamiento de los pacientes.


Introduction: Neurofibroma is a benign tumor that compromises the neural sheath of nerve tissue, intimately associated with Neurofibromatosis. Due to the involvement of peripheral and/or central nerves, its clinical expression is wide as a result of compression and/or displacement of neighboring structures, making its diagnosis difficult. Objective: The aim of this article is to review the literature on Neurofibromatosis and its manifestations in the maxillofacial territory, along with the presentation of a case of mandibular Hyperchondylism associated with a neurofibroma in the temporomandibular joint region in a patient with a history of Neurofibromatosis. Methods: We present the case of a patient with laterogenesis and a history of Neurofibromatosis type I (NF1). By imaging study, a right Hyperchondylism is detected along with the presence of a radiolucent area related to the neck of the compromised condyle, whose histopathological result confirmed the diagnosis of neurofibroma. Conclusions: There is a diverse clinical picture in patients with NF1, presenting a pre-disposition to neurofibromas development and bone abnormalities, leading to the compromise of the maxillofacial territory and causing facial asymmetries. Because of this, it is essential to have knowledge and consideration of both pathologies for the right planning of patient treatment.

19.
Multimed (Granma) ; 26(6)dic. 2022.
Artigo em Espanhol | LILACS-Express | LILACS | ID: biblio-1440685

RESUMO

Las genodermatosis constituyen un grupo de enfermedades genéticas con afectación de la piel y sus anexos. En Cuba, el Programa Nacional de Diagnóstico, Atención y Prevención de Enfermedades Genéticas, en relación a las genodermatosis, no cuenta con protocolos para su diagnóstico, tratamiento y seguimiento. El objetivo del estudio es evaluar una metodología para la atención a los pacientes con genodermatosis. Se realizó en Las Tunas, provincia oriental de Cuba, un estudio cuasi-experimental, aplicándose la variante Delphy del método de expertos, siendo consultados un grupo de especialistas cubanos de dermatología, genética médica clínica y pediatría, con alto nivel científico y experiencia en el trabajo con pacientes con genodermatosis. Diseñándose la metodología que propone el protocolo del diagnóstico, tratamiento y algoritmo de seguimiento para estos pacientes. Se estudiaron 395 pacientes atendidos en el Departamento provincial de Genética Médica. Se estudiaron la tasa de prevalencia, la media de casos diagnosticados por año, la proporción de complicaciones presentadas, el índice de supervivencia e índice de letalidad y para relacionar las variables referentes a la mejoría del estado dermatológico y manifestaciones extracutáneas se utilizó la prueba estadística de Chi cuadrado de Mc-Nemar, con una significación estadística p≤0,05. Después de implementada la metodología, predominó la neurofibromatosis 1, síndrome de Ehlers Danlos clásico e ictiosis vulgar, la media de casos diagnosticados por año aumentó; disminuyeron las complicaciones, predominando las piodermitis (6.13 %); el índice de mortalidad fue bajo (1.27%) con alto índice de supervivencia (98.73%) y mejoría de las manifestaciones dermatológicas (MCNemar X2=90.41558, P=0.000000) y extracutáneas (McNemar X2=24.083334, P=0.000001). La metodología diseñada para la atención a pacientes con genodermatosis fortalece el Programa Nacional de Diagnóstico, Atención y Prevención de Enfermedades Genéticas, demostrando ser efectiva, con mayor número de casos diagnosticados, menor proporción de complicaciones, alta supervivencia, baja letalidad y mejoría clínica de las manifestaciones dermatológicas y extracutáneas.


The genodermatoses constitutes a group of genetic diseases with affectation of the skin and their annexes. In Cuba, the National Program of Diagnostic, Attention and Prevention of Genetic diseases, in relation to the genodermatoses, don't have protocols for their diagnosis, treatment and pursuit. The objective of this study is to evaluate a methodology for the attention to the patients with genodermatosis. Was carried out in The Tunas, oriental county of Cuba, a quasi-experimental study, being applied the varying Delphy of the method of experts, being consulted a group of Cuban specialists of dermatology, genetics clinical doctor and pediatrics, with high scientific level and experience in the work with patient with genodermatoses. Being designed the methodology that proposes the protocol of the diagnosis, treatment and pursuit algorithm for these patients. 395 patients were studied assisted in the provincial Department of Medical Genetics. Were studied the prevalence rate, the stocking of cases diagnosed per year, the proportion of presented complications, the index of survival and lethality index and to relate the relating variables to the improvement of the state dermatologic and extracutaneous manifestations the statistical test of square Chi of Mc-Nemar was used, with a significance statistical p≤0,05. After having implemented the methodology, prevailed the neurofibromatosis, Ehlers Danlos syndrome and ichthyosis vulgaris; the stocking of cases diagnosed per year increased; they diminished the complications, prevailing the piodermitis (6.13%); the index of mortality was low (1.27%) with high index of survival (98.73%) and improvement of the manifestations dermatologic (MCNemar X2=90.41558, P=0.000000) and extracutaneous (McNemar X2=24.083334, P=0.000001). The methodology designed for the attention to patient with genodermatoses strengthens the National Program of Diagnostic, Attention and Prevention of Genetic Illnesses, demonstrating to be effective, with bigger number of diagnosed cases, smaller proportion of complications, high survival, low lethality and clinical improvement of the dermatologic and extracutaneous manifestations.


As genodermatoses são um grupo de doenças genéticas com envolvimento da pele e seus anexos. Em Cuba, o Programa Nacional de Diagnóstico, Cuidado e Prevenção de Doenças Genéticas, em relação às genodermatoses, não possui protocolos para seu diagnóstico, tratamento e acompanhamento. O objetivo do estudo é avaliar uma metodologia para o cuidado de pacientes com genodermatose. Um estudo quase-experimental foi realizado em Las Tunas, província oriental de Cuba, aplicando a variante Delphy do método expert, sendo consultado um grupo de especialistas cubanos em dermatologia, genética médica clínica e pediatria, com alto nível científico e experiência no trabalho com pacientes com genodermatose. Desenho da metodologia que propõe o protocolo de diagnóstico, tratamento e algoritmo de acompanhamento para esses pacientes. Um total de 395 pacientes tratados no Departamento Provincial de Genética Médica foram estudados. Foram estudadas as prevalências, o número médio de casos diagnosticados por ano, a proporção de complicações apresentadas, a sobrevida e o índice de letalidade e para relacionar as variáveis referentes à melhora do estado dermatológico e das manifestações extracutâneas, utilizou-se o teste estatístico Qui-quadrado de Mc-Nemar, com significância estatística p≤0, 05. Após a implementação da metodologia, predominaram a neurofibromatose 1, a síndrome clássica de Ehlers Danlos e a ictiose vulgar, aumentando-se o número médio de casos diagnosticados por ano; complicações diminuídas, predominantemente piodermite (6,13%); a taxa de mortalidade foi baixa (1,27%), com alta sobrevida (98,73%) e melhora dermatológica (MCNemar X2=90,41558, P=0,000000) e extracutânea (McNemar X2=24,083334, P=0,000001). A metodologia desenhada para o cuidado de pacientes com genodermatose fortalece o Programa Nacional de Diagnóstico, Cuidado e Prevenção de Doenças Genéticas, mostrando-se eficaz, com maior número de casos diagnosticados, menor proporção de complicações, alta sobrevida, baixa letalidade e melhora clínica das manifestações dermatológicas e extracutâneas.

20.
Rev. cuba. pediatr ; 94(4)dic. 2022.
Artigo em Espanhol | LILACS-Express | LILACS | ID: biblio-1441807

RESUMO

Introducción: Las genodermatosis son consideradas enfermedades raras, por ser poco frecuentes y afectar un número reducido de individuos. El poco conocimiento sobre ellas en el campo de las ciencias médicas y los pobres recursos terapéuticos disponibles dificulta su diagnóstico, con una alta morbilidad. En Las Tunas representan 22,22 % de las enfermedades genéticas. Entre ellas se pueden citar presentando alteraciones de la pigmentación con hiperpigmentación: incontinencia pigmenti, síndrome de LEOPARD, mastocitosis, la neurofibromatosis, síndrome de Noonan, y con hiper e hipopigmentación están las didimosis. Objetivo: Compilar información actualizada acerca de las características y criterios diagnósticos de las enfermedades genéticas nombradas que faciliten su estudio y seguimiento de los pacientes. Métodos: Revisión de la literatura disponible en SciELO, PubMed Central, Medline Plus, Clinical key, Orphanet y OMIM. Los descriptores utilizados fueron: genética médica, enfermedades dermatológicas genéticas. Durante el proceso de revisión se consultaron 7 libros y 16 artículos publicados en los últimos 5 años. Análisis y síntesis de la información: Se revisó la clasificación de las genodermatosis hiperpigmentarias, y de estas las características clínicas, el tipo de herencia, el gen afectado, los criterios diagnósticos y estudios complementarios. Conclusiones: Conocer las características y criterios diagnósticos de las enfermedades genéticas presentadas permite diagnosticarlas, diferenciarlas entre ellas y favorecer el seguimiento de los pacientes afectados.


Introduction: Genodermatoses are considered rare diseases, as they are rare and affect a small number of individuals. The poor knowledge about them in the field of medical sciences and the poor therapeutic resources available hinder their diagnosis, with high morbidity. In Las Tunas they represent 22.22% of genetic diseases. Among them, can be cited presenting pigmentation alterations with hyperpigmentation: incontinentia pigmenti, LEOPARD syndrome, mastocytosis, neurofibromatosis, Noonan syndrome, and with hyper and hypopigmentation are the didymosis. Objective: To compile updated information about the characteristics and diagnostic criteria of the genetic diseases named to facilitate their study and follow-up of patients. Methods: Literature review available in SciELO, PubMed Central, Medline Plus, Clinical key, Orphanet and OMIM. The descriptors used were: medical genetics, genetic dermatological diseases. During the review process, 7 books and 16 articles published in the last 5 years were consulted. Analysis and synthesis of information: The classification of hyperpigmentary genodermatoses was reviewed, and of these the clinical characteristics, the type of inheritance, the affected gene, the diagnostic criteria and complementary studies. Conclusions: Knowing the characteristics and diagnostic criteria of the genetic diseases presented allows to diagnose them, differentiate them between them and favor the follow-up of the affected patients.

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