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1.
BMJ Case Rep ; 14(1)2021 Jan 25.
Artigo em Inglês | MEDLINE | ID: mdl-33495177

RESUMO

Pheochromocytoma occasionally engenders catecholamine-induced hypertension crisis. Pheochromocytoma is clinically identified in 0.1%-5.7% of patients with neurofibromatosis type 1 (NF1), which is 10 times more frequently than in healthy individuals. This report describes a case of newly diagnosed NF1 presenting with pheochromocytoma crisis, with severe electrolyte depletion and deteriorating recurrent ventricular tachycardia storm. Characteristic skin lesions such as café-au-lait macules and neurofibromas contributed to the diagnosis of NF1 and pheochromocytoma. No recurrence of electrolyte depletion was found after the adrenalectomy. Primary care physicians must distinguish the characteristic skin lesions of NF1, such as café-au-lait macules and neurofibromas and recognise the risk for pheochromocytoma.


Assuntos
Neurofibromatose 1/diagnóstico , Feocromocitoma/diagnóstico , Taquicardia Ventricular/terapia , Desequilíbrio Hidroeletrolítico/terapia , 3-Iodobenzilguanidina , Adrenalectomia , Alcoolismo/complicações , Catecolaminas/urina , Cloretos/sangue , Humanos , Hipopotassemia/etiologia , Hipopotassemia/metabolismo , Hipopotassemia/terapia , Hiponatremia/etiologia , Hiponatremia/metabolismo , Hiponatremia/terapia , Hipofosfatemia/etiologia , Hipofosfatemia/metabolismo , Hipofosfatemia/terapia , Masculino , Metanefrina/urina , Pessoa de Meia-Idade , Feocromocitoma/complicações , Feocromocitoma/metabolismo , Feocromocitoma/cirurgia , Cintilografia , Compostos Radiofarmacêuticos , Taquicardia Ventricular/etiologia , Desequilíbrio Hidroeletrolítico/etiologia , Desequilíbrio Hidroeletrolítico/metabolismo
2.
BMJ Case Rep ; 13(12)2020 Dec 17.
Artigo em Inglês | MEDLINE | ID: mdl-33334746

RESUMO

A 28-year-old man presented with a progressive inward deviation of the left eye in the last 4 years. Examination revealed -3 abduction and elevation deficit in the left eye with 50 prism diopters (PD) esotropia and 12 PD of hypotropia. The patient had multiple fibromas on the forearms with pulsatile globe and was diagnosed as neurofibromatosis type 1. Myopic strabismus fixus was suspected. MRI revealed left temporal lobe herniation through a dysplastic sphenoid wing, compressing the posterior half of the superior rectus and lateral rectus muscles, resulting in an esotropia-hypotropia complex. Surgical treatment involved suture myopexy (Yokoyama's technique) of the left superior rectus and lateral rectus muscles with a 6.5 mm left medial rectus recession. Two months postoperatively, the patient had minimal residual esotropia and hypotropia. MRI orbits should always be performed in high myopes with strabismus to assess extraocular muscle pathways.


Assuntos
Encefalopatias/diagnóstico , Esotropia/cirurgia , Hérnia/etiologia , Miopia/cirurgia , Neurofibromatose 1/diagnóstico , Músculos Oculomotores/cirurgia , Adulto , Encefalopatias/etiologia , Diagnóstico Diferencial , Esotropia/diagnóstico , Esotropia/etiologia , Hérnia/diagnóstico , Humanos , Imagem por Ressonância Magnética , Masculino , Miopia/diagnóstico , Miopia/etiologia , Neurofibromatose 1/complicações , Osso Esfenoide/diagnóstico por imagem , Osso Esfenoide/patologia , Lobo Temporal/diagnóstico por imagem , Resultado do Tratamento , Acuidade Visual
3.
Clin Dermatol ; 38(4): 421-431, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32972601

RESUMO

Café au lait spots are common birthmarks seen sporadically and in association with several genetic syndromes. Dermatologists are often asked to evaluate these birthmarks both by other physicians and by parents. In some cases, it is challenging to know when and how to pursue further evaluation. Diagnostic challenges may come in the form of the appearance of the individual lesions, areas and patterns of cutaneous involvement, and associated features (or lack thereof). In this review, we aim to clarify when and how to evaluate the child with multiple or patterned café au lait spots and to explain some emerging concepts in our understanding of the genetics of these lesions.


Assuntos
Manchas Café com Leite/congênito , Manchas Café com Leite/diagnóstico , Neurofibromatose 1/diagnóstico , Neurofibromatose 1/genética , Dermatopatias Genéticas/diagnóstico , Dermatopatias Genéticas/genética , Pele/patologia , Proteínas Adaptadoras de Transdução de Sinal/genética , Manchas Café com Leite/genética , Manchas Café com Leite/patologia , Criança , Pré-Escolar , Diagnóstico Diferencial , Feminino , Deleção de Genes , Estudos de Associação Genética , Mutação em Linhagem Germinativa , Humanos , Lactente , Recém-Nascido , Masculino , Neurofibromatose 1/patologia , Neurofibromina 1/genética , Dermatopatias Genéticas/patologia , Síndrome
4.
Clin Dermatol ; 38(4): 455-461, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32972603

RESUMO

RASopathies are a group of disorders characterized by mutations in the RAS-MAPK pathway. RAS-MAP signaling plays a critical role in cell differentiation, proliferation, and survival. Germline mutations can result in distinctive syndromes, including Noonan syndrome, Costello syndrome, and neurofibromatosis type 1. Mosaic RASopathies can present as localized cutaneous lesions like epidermal nevi and nevus sebaceous, or more extensive conditions such as encephalocraniocutaneous lipomatosis. We review the heterogenous presentation of RAS mutations, discuss new targeted therapies, and highlight areas of uncertainty, including carcinogenesis risk and appropriate screening.


Assuntos
Síndrome de Costello/genética , Oftalmopatias/genética , Mutação em Linhagem Germinativa , Lipomatose/genética , Sistema de Sinalização das MAP Quinases/genética , Proteínas Monoméricas de Ligação ao GTP/genética , Síndromes Neurocutâneas/genética , Neurofibromatose 1/genética , Síndrome de Noonan/genética , Síndrome de Costello/diagnóstico , Síndrome de Costello/terapia , Oftalmopatias/diagnóstico por imagem , Oftalmopatias/terapia , Humanos , Lipomatose/diagnóstico por imagem , Lipomatose/terapia , Terapia de Alvo Molecular , Mutação , Síndromes Neurocutâneas/diagnóstico por imagem , Síndromes Neurocutâneas/terapia , Neurofibromatose 1/diagnóstico , Neurofibromatose 1/terapia , Síndrome de Noonan/diagnóstico , Síndrome de Noonan/terapia , Risco
5.
Clin Dermatol ; 38(4): 462-466, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32972604

RESUMO

The human genome project yielded a compendium of genetic material that has allowed rapid advancement both in the technique of whole exome sequencing and also in the ability to identify single gene defects. The next generation of genetics has investigated how these genes interact in the development of disease, identifying pathways of illness and end organ tissue abnormal development. From the knowledge of single genes and pathways of genodermatosis development arises the opportunity to produce genetic therapies. This contribution reviews some of the exciting, emerging genetic therapies in genodermatoses.


Assuntos
Dermatopatias Genéticas/terapia , Administração Tópica , Anticolesterolemiantes/administração & dosagem , Displasia Ectodérmica Anidrótica Tipo 1/diagnóstico , Displasia Ectodérmica Anidrótica Tipo 1/genética , Displasia Ectodérmica Anidrótica Tipo 1/terapia , Epidermólise Bolhosa/diagnóstico , Epidermólise Bolhosa/genética , Epidermólise Bolhosa/terapia , Edição de Genes , Humanos , Neurofibromatose 1/diagnóstico , Neurofibromatose 1/genética , Neurofibromatose 1/terapia , Transdução de Sinais/genética , Dermatopatias Genéticas/diagnóstico , Dermatopatias Genéticas/genética , Ustekinumab/uso terapêutico , Sequenciamento Completo do Exoma
6.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 37(8): 851-854, 2020 Aug 10.
Artigo em Chinês | MEDLINE | ID: mdl-32761593

RESUMO

OBJECTIVE: To explore the genetic basis for a child with global developmental delay and neurofibromatosis type 1 (NF1). METHODS: The patient underwent clinical examination. Whole exome sequencing (WES) was carried out to detect pathogenic genetic variants. RESULTS: The child had cafe au lait spots all over her body, pigmentation in the back, and global developmental delay as assessed by Gese II. Cranial MRI revealed globular abnormal density in the lower hemisphere of left posterior cranial fossa. WES detected a novel variant of the NF1 gene, c.6513-6515del (p.Tyr2171), which was strongly correlated with her clinical phenotype. The same variant was not found in either parent and was unreported previously. CONCLUSION: The c.3842T>G variant of the NF1 gene probably underlay the NF1 and global developmental delay in this child, for whom prompt symptomatic treatment and regular follow-up were recommended.


Assuntos
Deficiências do Desenvolvimento , Genes da Neurofibromatose 1 , Testes Genéticos , Neurofibromatose 1 , Manchas Café com Leite/diagnóstico , Manchas Café com Leite/genética , Criança , Deficiências do Desenvolvimento/diagnóstico , Deficiências do Desenvolvimento/genética , Feminino , Humanos , Neurofibromatose 1/diagnóstico , Neurofibromatose 1/genética , Fenótipo
7.
Anticancer Res ; 40(6): 3423-3427, 2020 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-32487640

RESUMO

BACKGROUND: Neurofibromatosis type 1 (NF1) is an autosomal dominant hereditary disease with complete penetrance and a very variable phenotype. Recent research has shown that postzygotic NF1 gene mutations occur to a far greater extent than previously thought. The phenotype of affected individuals reflects the time of somatic mutation and the phenotype is correspondingly diverse. This report describes histological and genetic findings in a case of mosaic NF1, the clinical control of which documents almost stationary skin findings over a period of 9 years. CASE REPORT: The 55-year-old female first presented for advice on a strip of nodular skin tumours of the calf skin. She had no hallmarks of NF1. It was only 9 years later that she had the skin tumours removed, all of which were partially diffuse and partially plexiform neurofibroma. The genetic examination showed an atypical large deletion of the NF1 gene in the skin tumours, but not in overlying skin or blood. CONCLUSION: Segmental NF1 is a distinct type of mosaic/somatic NF1 mutation. The phenotype of diffuse and plexiform skin neurofibromas can resemble cutaneous neurofibroma. Surgical therapy for segmental neurofibromatosis does not differ from the concepts for treating nerve sheath tumours in NF1 patients with a germline NF1 mutation.


Assuntos
Mosaicismo , Neurofibroma Plexiforme/diagnóstico , Neurofibroma Plexiforme/genética , Neurofibromatose 1/diagnóstico , Neurofibromatose 1/genética , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/genética , Biópsia , Feminino , Estudos de Associação Genética , Predisposição Genética para Doença , Testes Genéticos , Humanos , Perna (Membro)/patologia , Pessoa de Meia-Idade
10.
Am J Emerg Med ; 38(7): 1543.e3-1543.e5, 2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-32305158

RESUMO

Patients with neurofibromatosis type 1 (NF1) can develop both benign and malignant tumors throughout their lives. A 49-year-old man was transferred to the emergency department with complaints of sudden right dorsal pain and respiratory discomfort. He was in shock on arrival. On finding significantly decreased permeability of the left lung field in chest X-ray, drainage was immediately performed. Subsequent computed tomography (CT; Lammert et al., 2005) angiography revealed the extravasation of contrast media from the deep carotid artery, a branch of subclavian artery. It suggested rupture of an aneurysm located at a rare site; the ruptured aneurysm penetrated the pleura, causing shock. The patient was resuscitated. Transcatheter arterial embolization (TAE; Evans et al., 2010) was successfully performed. Immediate drainage, resuscitation, and TAE 2 improved his condition. Most NF1 patients have café-au-lait macules; café-au-lait macules tend to fade with age. Importantly, café-au-lait macules, neurofibromas, and Lisch nodules were noticed at admission. NF1 patients are likely to have a malignant neoplasm when they are young. The patient had been diagnosed with thyroid cancer when he was young. As his deceased mother was an NF1 patient, we diagnosed him with NF1. Detailed patient history and early-stage examination led to the early diagnosis. NF1 should be considered as an early differential diagnosis to improve the outcome of patients in such cases.


Assuntos
Aneurisma Roto/etiologia , Artérias Carótidas/diagnóstico por imagem , Hemotórax/etiologia , Neurofibromatose 1/diagnóstico , Choque/etiologia , Angiografia por Tomografia Computadorizada , Humanos , Masculino , Pessoa de Meia-Idade
11.
Rev. argent. dermatol ; 101(1): 81-91, mar. 2020. graf
Artigo em Espanhol | LILACS | ID: biblio-1125809

RESUMO

RESUMEN Presentamos un caso de neurofibromatosis segmentaria, en un paciente de sexo masculino de 60 años de edad. Los neurofibromas se localizaban en región cervical, los mismos eran asintomáticos, de 8 años de evolución.


ABSTRACT A case of segmental neurofibromatosis in a 60 years old male patient is presented along with a brief review of the literature. The patient had 8 years old neurofibromas, located in the cervical region; they were asymptomatic. No other alteration of type 1 neurofibromatosis was found.


Assuntos
Humanos , Masculino , Pessoa de Meia-Idade , Neurofibromatose 1/diagnóstico , Neurofibromatose 1/patologia , Neurofibromatose 1/terapia , Neurofibroma/epidemiologia
12.
Indian J Pathol Microbiol ; 63(1): 112-115, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32031137

RESUMO

Neurofibromatosis type 1 (NF1), also known as von Recklinghausen's disease, is a type of genodermatoses having an autosomal dominant inheritance pattern and is recently considered as a RASopathy. Such patients are very much prone to develop mesenchymal tumors. However, carcinomas are quite rare in NF1 patients. This case study is the first case of oral squamous cell carcinoma (SCC) in tongue of an NF1 patient. A 35-year-old male reported to the Department of Oral Pathology in a tertiary care center with a chief complain of a painful ulcer on tongue for last 1 month. For confirmation of diagnosis of NF1, the "Diagnostic Criteria for Neurofibromatosis Type 1" was followed. Biopsied specimen of the tongue lesion was examined under microscope and histopathological features were suggestive of infiltrating SCC. Immunohistochemistry with Pan CK and beta-catenin was positive. RASopathy, WNT-beta-catenin pathway alteration, heat shock factor 1 production, and miRNA activity are investigated to explain the pathogenesis of malignancies in NF1 patients. In this first case of tongue SCC, we have found out the altered WNT-beta-catenin pathway.


Assuntos
Carcinoma de Células Escamosas/diagnóstico , Neurofibromatose 1/diagnóstico , Neurofibromatose 1/patologia , Neoplasias da Língua/diagnóstico , Adulto , Biópsia , Técnicas Histológicas , Humanos , Imuno-Histoquímica , Masculino , Transdução de Sinais , Língua/patologia , Via de Sinalização Wnt
15.
J Pediatr Hematol Oncol ; 42(4): e244-e247, 2020 05.
Artigo em Inglês | MEDLINE | ID: mdl-31033790

RESUMO

Systemic lupus erythematosus (SLE) is an autoimmune disease that affects multiple organ systems. Patients can have hematologic manifestations, including Evans syndrome (ES), which is characterized by immune-mediated thrombocytopenia and anemia. The association of neurofibromatosis 1 (NF1) with autoimmune disorders is rarely reported. We will review the literature for this combination of disorders and describe a case of a 16-year-old girl who presents with immune-mediated cytopenias and is diagnosed with SLE, ES, and NF1. There are 7 reported cases of SLE and NF1 and only 2 are pediatric cases. There are no reports of the combination of SLE, ES, and NF1.


Assuntos
Anemia Hemolítica Autoimune , Lúpus Eritematoso Sistêmico , Neurofibromatose 1 , Trombocitopenia , Adolescente , Anemia Hemolítica Autoimune/sangue , Anemia Hemolítica Autoimune/complicações , Anemia Hemolítica Autoimune/diagnóstico , Feminino , Humanos , Lúpus Eritematoso Sistêmico/sangue , Lúpus Eritematoso Sistêmico/complicações , Lúpus Eritematoso Sistêmico/diagnóstico , Neurofibromatose 1/sangue , Neurofibromatose 1/complicações , Neurofibromatose 1/diagnóstico , Trombocitopenia/sangue , Trombocitopenia/complicações , Trombocitopenia/diagnóstico
16.
Vasc Endovascular Surg ; 54(2): 182-190, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31672102

RESUMO

PURPOSE: Neurofibromatosis type 1 (NF1) is an autosomal-dominant disorder found in approximately 1 of every 3000 individuals. Neurofibromatosis type 1 can have vascular manifestations including aneurysms, stenoses, and arteriovenous malformations. The purpose of this article is to describe the clinical manifestations of NF1 vasculopathy, discuss therapeutic options, and highlight endovascular therapies from our institutional experience. MATERIALS AND METHODS: The radiology information system was searched for cases of NF1. Cases with vasculopathy managed with endovascular therapies were included. Demographics, clinical histories, procedural details, and outcomes were recorded. A review of the literature for the management strategies of NF1 vasculopathy was performed. RESULTS: Two pediatric patients with NF1 were identified, both of whom presented with hypertension found to be secondary to renal artery stenosis. One of the patients also had infrarenal aortic narrowing. Both patients were successfully treated with balloon angioplasty, resulting in improved blood pressures. The review of the literature identified case series of pharmacologic, surgical, and endovascular therapies, although, endovascular therapies appear to be preferred due to lower morbidity and mortality. CONCLUSIONS: NF1 vasculopathy is a rare condition that most often presents with hypertension due to renal artery stenosis. In these situations, endovascular management is the preferred approach.


Assuntos
Angioplastia com Balão , Hipertensão Renovascular/terapia , Neurofibromatose 1/complicações , Obstrução da Artéria Renal/terapia , Artéria Renal/fisiopatologia , Pressão Arterial , Criança , Pré-Escolar , Feminino , Humanos , Hipertensão Renovascular/diagnóstico por imagem , Hipertensão Renovascular/etiologia , Hipertensão Renovascular/fisiopatologia , Neurofibromatose 1/diagnóstico , Artéria Renal/diagnóstico por imagem , Obstrução da Artéria Renal/diagnóstico por imagem , Obstrução da Artéria Renal/etiologia , Obstrução da Artéria Renal/fisiopatologia , Resultado do Tratamento , Grau de Desobstrução Vascular
17.
Spine (Phila Pa 1976) ; 45(9): E489-E498, 2020 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-31770328

RESUMO

MINI: We identified differentially expressed genes (DEGs) that may be involved in the development of neurofibromatosis type I by whole-transcriptional sequencing. Seven hundred eighty DEGs were identified which include protein coding genes, miRNAs, and lncRNAs. The enrichment analysis may reveal pathways that these DEGs involved. A total of 383 protein-pairs for DEGs may unfold the possible mechanism how the disease is developed. STUDY DESIGN: This is a clinical basic study on neurofibromatosis type I (NF-1) with spinal deformity. OBJECTIVE: The current research focuses on screening key molecules affecting NF-1 with spinal deformity by transcriptome sequencing and discovering its underlying molecular biological mechanisms. SUMMARY OF BACKGROUND DATA: NF-1 is a complex multisystem human disorder, which is often found in spinal deformities patients. The success rate of orthopedic surgery for neurofibromatosis type I combined with spinal deformities patients was low because of the lack of molecular pathology. METHODS: In our study, the transcriptome-wide sequencing was preformed to identify the differentially expressed genes (DEGs) involved in this disease. RESULTS: Seven hundred eighty DEGs were identified which include protein coding genes, miRNAs, and lncRNAs. The DO, GO, KEGG and Reactome enrichment analysis may reveal pathways that these DEGs involved. And the 383 protein-pairs for DEGs that are involved in NF-1 combined with spinal deformities may unfold the possible mechanism how this disease is developed. CONCLUSION: The differentially expressed miRNAs and lncRNAs may contribute the ceRNA network. We focused on three key DEGs: FGFR2, MAP3K1 and STAT4. FGFR2 and MAP3K1 are members of the RAS/RAF/MEK/ERK-signaling pathway, and STAT4 were involved in the JAK/STAT pathway. The expression changes were verified by other researches and the functional cross-talk between the Ras/MAPK and JAK/STAT pathways may contribute in the disease development. This study took insight of the molecular mechanism of this disease. More detailed interactions between these factors are needed to be further explored. These key DEGs and involved pathways may provide clues in the clinical process for patients with NF-1, especially in prognosis prediction. LEVEL OF EVIDENCE: N/A.


Assuntos
Perfilação da Expressão Gênica/métodos , Neurofibromatose 1/genética , Análise de Sequência de RNA/métodos , Doenças da Coluna Vertebral/genética , Transcriptoma/genética , Adolescente , Adulto , Criança , Feminino , Humanos , Masculino , MicroRNAs/genética , Neurofibromatose 1/complicações , Neurofibromatose 1/diagnóstico , Doenças da Coluna Vertebral/complicações , Doenças da Coluna Vertebral/diagnóstico , Adulto Jovem
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