RESUMO
McCune-Albright syndrome is an inherited disease characterized by the association of fibrous dystrophy of bone, café-au-lait skin spots and precocious puberty revealing endocrine hyperactivity. Genetically, this disease is due to a mutation of the Gs protein responsible for activation of adenylate cyclase with excessive production of cAMP. The particular morphology of café-au-lait spots should suggest early diagnosis. Its treatment depends on the endocrinopathy from which the patient suffers and the extent of the fibrous dysplasia. Bisphosphonates have proven their effectiveness on bone pain and the limitation of fibrous dysplasia. Surgery retains its place in complicated forms. We report a rare case of McCune-Albright syndrome complicated by a femur fracture in a 12-year-old girl and we discuss the clinical and paraclinical characteristics of this pathological entity.
Assuntos
Displasia Fibrosa Óssea , Displasia Fibrosa Poliostótica , Puberdade Precoce , Feminino , Humanos , Criança , Displasia Fibrosa Poliostótica/diagnóstico , Puberdade Precoce/diagnóstico , Puberdade Precoce/etiologia , Manchas Café com Leite/etiologia , Manchas Café com Leite/complicações , MutaçãoRESUMO
Nowadays, laser is the mainstay treatment for cafe-au-lait macules (CALMs), but no systematic review has been published to demonstrate the overall efficacy and it's still controversial which type of laser is optimal. Thus, we conduct the meta-analysis to evaluate the effectiveness and side effects of various types of lasers in treating CALMs. Original articles reporting the efficacy and side effects for CALMs in laser treatment were identified in PubMed, EMBASE, and Web of Science from 1983 to April 11, 2023. Using R software and the 'meta' package, meta-analysis was conducted for clearance and recurrence for evaluation of efficacy. And the occurrence of hypopigmentation and hyperpigmentation rate was pooled for safety evaluation. We used RoB2 and ROBINS-I tools to assess the risks of bias in RCT studies and non-RCT studies, respectively. The Grading of Recommendations, Assessment, Development and Evaluation system was used to assess the quality of the evidence. Nineteen studies involving 991 patients were included, which had a very low to moderate quality of evidence. The pooled 75% clearance rate was 43.3% (95% CI 31.8-54.7%, I2 = 96%), 50% clearance rate was 75% (95% CI 62.2-85.9%, I2 = 89%) and the recurrence rate was 13% (95% CI 3.2-26.5%, I2 = 88%). The pooled hypopigmentation and hyperpigmentation rates were 1.2% (95% CI 0.3-2.1%, I2 = 0%) and 1.2% (95% CI 0.3-2%, I2 = 0%), respectively. Subgroup analysis revealed that QS-1064-nm Nd:YAG laser treatment not only achieved more than 75% clearance rate in 50.9% of patients (95% CI 26.9-74.4%, I2 = 90%) but also resulted in the lowest hypopigmentation and hyperpigmentation rate of 0.5% (95% CI 0.0-2.5%, I2 = 26%) and 0.4% (95% CI 0.0-2.5%, I2 = 0%). To draw a conclusion, the laser treatment could reach an overall clearance rate of 50% for 75% of the patients with CALMs, for 43.3% of the patients, the clearance rate could reach 75%. When looking at different wavelength subgroups, QS-1064-nm Nd:YAG laser exhibited the best treatment capability. Laser of all the wavelength subgroups presented acceptable safety regarding of the low occurrence of side effects, namely, hypopigmentation and hyperpigmentation.
Assuntos
Hiperpigmentação , Hipopigmentação , Lasers de Estado Sólido , Humanos , Resultado do Tratamento , Lasers de Estado Sólido/efeitos adversos , Manchas Café com Leite/radioterapia , Manchas Café com Leite/etiologia , Hipopigmentação/etiologia , Hipopigmentação/radioterapia , Hiperpigmentação/etiologiaRESUMO
Neurofibromatosis type 1 (NF1) is one of the most common genetic neurocutaneous disorders. The hallmark of this disease is skin lesions in the form of café-au-lait spots, ephelides, and the characteristic cutaneous neurofibromas. Other common manifestations include bone abnormalities, "NF1 vasculopathy," and neurocognitive disorders. In addition, patients are at an increased risk for a wide variety of malignant neoplasms, including the malignant transformation of plexiform neurofibromas. It is necessary to know the various clinical characteristics of this disorder and to provide an early, multidisciplinary follow-up and treatment approach in order to provide optimal care to these patients, who present with a multisystemic disease that is potentially severe. This review summarizes the diagnosis and main clinical characteristics and suggests a protocol for screening and follow-up of adult patients with NF1.
Assuntos
Neurofibroma Plexiforme , Neurofibroma , Neurofibromatose 1 , Adulto , Manchas Café com Leite/etiologia , Manchas Café com Leite/genética , Seguimentos , Humanos , Neurofibroma/complicações , Neurofibroma Plexiforme/complicações , Neurofibromatose 1/complicações , Neurofibromatose 1/diagnóstico , Neurofibromatose 1/terapiaRESUMO
BACKGROUND: The diagnosis of Neurofibromatosis type 1 (NF1) is usually delayed in children without a family history. We aimed to define the prevalence and characteristics of prevalent skin manifestations in NF1 compared to the general population, which continue to be excluded from the diagnostic criteria for NF1. PATIENTS AND METHODS: Case-control study, matched by age groups, in which 108 patients with a diagnosis of NF1 and 137 healthy controls were included. RESULTS: The prevalence of nevus anemicus (NA) (p<0.001) and juvenile xanthogranulomas (JXG) (p<0.001) was significantly higher in the population affected by NF1 than in the control population. A specificity of 99.27% [confidence interval (CI): 95.4-99.96%] and a positive predictive value (PPV) of 98.80% [92.54-99.94%] were estimated for NA and a specificity of 99.27% [95.4-99.96%] and a PPV of 92.86% [64.17-99.63%] for JXG in the diagnosis of NF1 in children who present 6 or more Café-au-lait macules. Statistically significant differences were also evidenced in the distribution by phototypes (p 0.025) and in relation to generalized itching with no other cause (p<0.001). CONCLUSIONS: NA and JXG are relevant clinical findings for the diagnosis of NF1, especially during the first years of life. We consider that its inclusion among the diagnostic criteria of the disease should be evaluated.
Assuntos
Neurofibromatose 1 , Transtornos da Pigmentação , Xantogranuloma Juvenil , Criança , Humanos , Neurofibromatose 1/diagnóstico , Neurofibromatose 1/epidemiologia , Estudos de Casos e Controles , Manchas Café com Leite/epidemiologia , Manchas Café com Leite/etiologia , Manchas Café com Leite/diagnóstico , Prevalência , InflamaçãoRESUMO
Neurofibromatosis type 1 (NF1) is the most frequent genodermatosis. Its cutaneous findings are key for early diagnosis, as they usually appear at early age. Café-au-lait macules are the most known cutaneous findings. Neurofibromas are the most frequent cutaneous tumors in patients with NF1, showing multiple clinical manifestations. They are classified as superficial and deep lesions, and su perficial neurofibromas are subdivided in cutaneous or subcutaneous. Some neurofibromas may be present since birth; however, most appear during adolescence. Neurofibromas constitute 2 out of 7 of the NIH criteria of Neurofibromatosis type 1. Most of them are benign, do not require treatment and their recognition allows an early diagnosis of the disease. OBJECTIVE: To describe and classify neu rofibromas associated with NF1 through a clinical case. CLINICAL CASE: 18-year-old male diagnosed since childhood with NF1 presents with multiple oval nodules on his face, occipital area, and wrist, multiple blue-red macules on his back and an asymptomatic pink plaque in his thigh. Ultrasound of the nodules was suggestive of neurofibromas and a skin biopsy of the lesions in the back and thigh were consistent with cutaneous neurofibromas. CONCLUSION: This case illustrates the varied clinical manifestations of neurofibromas in adolescence. Recognition of neurofibromas by the pediatrician, pediatric neurologist and/or dermatologist is crucial for the early diagnosis of NF1.
Assuntos
Neurofibroma , Neurofibromatose 1 , Criança , Masculino , Adolescente , Humanos , Neurofibromatose 1/complicações , Neurofibromatose 1/diagnóstico , Neurofibromatose 1/patologia , Neurofibroma/diagnóstico , Neurofibroma/complicações , Manchas Café com Leite/etiologia , Manchas Café com Leite/complicaçõesRESUMO
Neurofibromatosis type 1 (NF1) is a rare autosomal dominant genetic disorder. It is a multisystem neurocutaneous condition represented by multiple benign tumors of the nerves and skin known as neurofibromas and cafe' au lait spots. However, neurofibroma localized in the mandible is rare. We present a case of a 3-year-old, Egyptian girl with NF1. The girl presented with right mandibular swelling of undetermined duration and multiple hyperpigmented spots on the skin. This case report shows the important role of dentists, as demonstrated in the present case, in the diagnosis and management of this disease, since the diagnosis was made during dental consultation and subsequently managed by the team.
Assuntos
Neurofibroma , Neurofibromatose 1 , Manchas Café com Leite/diagnóstico , Manchas Café com Leite/etiologia , Pré-Escolar , Feminino , Humanos , Mandíbula/diagnóstico por imagem , Neurofibromatose 1/diagnóstico , PeleRESUMO
Neurofibromatosis type 1 (NF1) is an autosomal dominant condition affecting 1 in 3,500 people resulting from an NF1 gene mutation that encodes the nonfunctional protein neurofibromin mutant. Neurofibromin is a negative regulator of RAS signaling involved in cell survival and proliferation. NF1 typically presents at birth or in early childhood with multiple light brown (café au lait) spots and axillary freckling. With age, patients may develop scattered neurofibromas as well as additional neurological and malignant abnormalities. Additionally, the nonfunctional protein neurofibromin mutant may be involved in the pathogenesis of peripheral malignant nerve sheath tumors, which is a rare and life-threatening complication of NF1. While a disqualifying condition for military duty, it may not initially be clinically apparent until complications develop. Here, we present a case of malignant peripheral sheath in an U.S. Army African American reservist with NF1 in whom cutaneous manifestations of NF1 such as café au lait spots and axillary freckling were not identified on the initial military entrance processing examination.
Assuntos
Militares , Neurofibromatose 1 , Neurofibrossarcoma , Adulto , Negro ou Afro-Americano , Manchas Café com Leite/diagnóstico , Manchas Café com Leite/etiologia , Humanos , Neurofibromatose 1/complicações , Neurofibromatose 1/diagnóstico , Neurofibromatose 1/genética , Neurofibromina 1RESUMO
Neurofibromatosis type 1 (NF1) is the most common disorder characterized by multiple café-au-lait macules. Most individuals with this autosomal dominant disorder also have other features, such as skinfold freckling, iris Lisch nodules and benign or malignant peripheral nerve sheath tumours. Legius syndrome is a less frequent autosomal dominant disorder with similar multiple café-au-lait macules and skinfold freckling. Legius syndrome is not characterized by an increased risk of tumours, and a correct diagnosis is important. In young children with a sporadic form of multiple café-au-lait macules with or without freckling and no other manifestations of NF1 these 2 conditions cannot be differentiated based on clinical examination. Molecular analysis of the NF1 and SPRED1 genes is usually needed to differentiate the 2 conditions. Other less frequent conditions with café-au-lait macules are Noonan syndrome with multiple lentigines, constitutional mismatch repair deficiency and McCune-Albright syndrome.
Assuntos
Manchas Café com Leite/diagnóstico , Manchas Café com Leite/genética , Neurofibromatose 1/diagnóstico , Neurofibromatose 1/genética , Proteínas Adaptadoras de Transdução de Sinal/genética , Manchas Café com Leite/etiologia , Diagnóstico Diferencial , Testes Genéticos , Humanos , Proteínas Quinases Ativadas por Mitógeno/genética , Proteínas Quinases Ativadas por Mitógeno/metabolismo , Neurofibromina 1/genética , Síndrome de Noonan/genética , Fenótipo , Transdução de Sinais , Proteínas ras/genética , Proteínas ras/metabolismoRESUMO
Resumen: Introducción: La neurofibromatosis tipo 1 (NF1) es una entidad genética con una incidencia de 1 entre 2,500 a 3,500 nacimientos. Por su parte, el complejo esclerosis tuberosa (CET) presenta una incidencia de 1 entre 6,000 a 10,000 nacimientos. Ambas entidades neurocutáneas cursan con un patrón de herencia autosómico dominante, expresividad variable y la morbimortalidad se encuentra asociada a complicaciones multisistémicas. El objetivo de este trabajo fue exponer las características clínicas y epidemiológicas de una serie de pacientes pediátricos con diagnóstico de NF1 y CET atendidos en la Unidad de Genética Médica de la Universidad de Los Andes. Métodos: Este trabajo corresponde a una serie de casos de pacientes menores de 16 años atendidos en un período de 11 años, que cumplan con los criterios diagnósticos de NF1 y CET según los consensos para cada entidad. Resultados: Se estudiaron 89 pacientes, 73 con NF1 y 16 con CET. Presentaron dos criterios para NF1, 58 (79.45%) pacientes, y las máculas café con leche fueron las más frecuentes y presentes en todos los casos; 10 pacientes (62.50 %) presentaron dos criterios mayores para el CET, y las máculas hipocrómicas estuvieron igualmente presentes en todos los casos. Conclusiones: Este estudio muestra la forma de presentación clínica de las dos entidades neurocutáneas más frecuentes. Se discuten los criterios diagnósticos con el objeto de identificarlos a edades más tempranas y poder brindar una evaluación médica interdisciplinaria, tratamiento y un oportuno asesoramiento genético familiar.
Abstract: Background: Neurofibromatosis type 1 (NF1) is a genetic entity with an incidence of 1 in 2,500 to 3,500 births. Tuberous sclerosis complex (TSC) has an incidence between 1 in 6,000 to 10,000 births. Both neurocutaneous entities present an autosomal dominant inheritance pattern, variable expressivity and their morbidity and mortality is associated with multisystemic complications. The aim of this study was to present the clinical and epidemiological characteristics of a series of pediatric patients diagnosed with NF1 and TSC, who were treated in the Medical Genetics Unit of the Universidad of Los Andes. Methods: This work corresponds to a series of cases of patients under 16 years of age served in a period of 11 years, who met the diagnostic criteria of NF1 and CET according to the consensus for each entity. Results: We studied 89 patients, 73 with NF1 and 16 with TSC. 58 (79.45%) of the patients presented two criteria for NF1, with café-au-lait macules being the most frequent and present in all cases. 10 (62.50%) of the patients presented two major criteria for TSC; hypochromic macules were equally present in all cases. Conclusions: This study shows the clinical presentation of the two most frequent neurocutaneous entities. Diagnostic criteria are discussed in order to perform them at younger ages and to provide an interdisciplinary medical evaluation, treatment and timely family genetic counseling.
Assuntos
Adolescente , Criança , Feminino , Humanos , Masculino , Esclerose Tuberosa/epidemiologia , Neurofibromatose 1/epidemiologia , Hipopigmentação/etiologia , Manchas Café com Leite/etiologia , Esclerose Tuberosa/diagnóstico , Esclerose Tuberosa/fisiopatologia , Neurofibromatose 1/diagnóstico , Neurofibromatose 1/fisiopatologiaRESUMO
Introducción: La neurofibromatosis tipo 1 (NF1) es una entidad genética con una incidencia de 1 entre 2,500 a 3,500 nacimientos. Por su parte, el complejo esclerosis tuberosa (CET) presenta una incidencia de 1 entre 6,000 a 10,000 nacimientos. Ambas entidades neurocutáneas cursan con un patrón de herencia autosómico dominante, expresividad variable y la morbimortalidad se encuentra asociada a complicaciones multisistémicas. El objetivo de este trabajo fue exponer las características clínicas y epidemiológicas de una serie de pacientes pediátricos con diagnóstico de NF1 y CET atendidos en la Unidad de Genética Médica de la Universidad de Los Andes. Métodos: Este trabajo corresponde a una serie de casos de pacientes menores de 16 años atendidos en un período de 11 años, que cumplan con los criterios diagnósticos de NF1 y CET según los consensos para cada entidad. Resultados: Se estudiaron 89 pacientes, 73 con NF1 y 16 con CET. Presentaron dos criterios para NF1, 58 (79.45%) pacientes, y las máculas café con leche fueron las más frecuentes y presentes en todos los casos; 10 pacientes (62.50 %) presentaron dos criterios mayores para el CET, y las máculas hipocrómicas estuvieron igualmente presentes en todos los casos. Conclusiones: Este estudio muestra la forma de presentación clínica de las dos entidades neurocutáneas más frecuentes. Se discuten los criterios diagnósticos con el objeto de identificarlos a edades más tempranas y poder brindar una evaluación médica interdisciplinaria, tratamiento y un oportuno asesoramiento genético familiar. Background: Neurofibromatosis type 1 (NF1) is a genetic entity with an incidence of 1 in 2,500 to 3,500 births. Tuberous sclerosis complex (TSC) has an incidence between 1 in 6,000 to 10,000 births. Both neurocutaneous entities present an autosomal dominant inheritance pattern, variable expressivity and their morbidity and mortality is associated with multisystemic complications. The aim of this study was to present the clinical and epidemiological characteristics of a series of pediatric patients diagnosed with NF1 and TSC, who were treated in the Medical Genetics Unit of the Universidad of Los Andes. Methods: This work corresponds to a series of cases of patients under 16 years of age served in a period of 11 years, who met the diagnostic criteria of NF1 and CET according to the consensus for each entity. Results: We studied 89 patients, 73 with NF1 and 16 with TSC. 58 (79.45%) of the patients presented two criteria for NF1, with café-au-lait macules being the most frequent and present in all cases. 10 (62.50%) of the patients presented two major criteria for TSC; hypochromic macules were equally present in all cases. Conclusions: This study shows the clinical presentation of the two most frequent neurocutaneous entities. Diagnostic criteria are discussed in order to perform them at younger ages and to provide an interdisciplinary medical evaluation, treatment and timely family genetic counseling.
Assuntos
Manchas Café com Leite/etiologia , Hipopigmentação/etiologia , Neurofibromatose 1/epidemiologia , Esclerose Tuberosa/epidemiologia , Adolescente , Criança , Feminino , Humanos , Masculino , Neurofibromatose 1/diagnóstico , Neurofibromatose 1/fisiopatologia , Esclerose Tuberosa/diagnóstico , Esclerose Tuberosa/fisiopatologiaRESUMO
INTRODUCTION: Neurofibromatosis type 1 (NF1) or Von Recklinghausen disease is an autosomal dominant genetic disorder with multivisceral manifestations. We report the case of a spontaneous haemothorax in a young lady wearing this genetic pathology. CASE REPORT: A 31-year-old woman with kyphoscoliosis developed acute chest pain and dyspnea. The physical examination revealed a right pleuritic syndrome, coffee and milk spots and neurofibromas of the trunk. Biological assessment showed anemia at 6.4g/dl. Chest x-ray revealed a right side opacification. The pleural puncture showed an incoagulable hemorrhagic fluid. The chest CT scan showed no vascular abnormalities. The diagnosis of spontaneous haemothorax, revealing NF1, was retained. Transfusion and thoracic drainage were performed followed by haemostasis surgery. Pleural exploration showed pleural hematoma with regard to the 5th intercostal space. Electrocoagulation and declogging were performed. The evolution of the patient was favorable. CONCLUSION: Haemothorax is a rare and serious complication which may reveal NF1. It must be suspected when sudden and spontaneous white haemithorax occurs in NF1.
Assuntos
Hemotórax/etiologia , Neurofibromatose 1/diagnóstico , Adulto , Manchas Café com Leite/etiologia , Drenagem/métodos , Eletrocoagulação/métodos , Feminino , Hemotórax/terapia , Humanos , Neurofibromatose 1/complicações , Tomografia Computadorizada por Raios XRESUMO
Neurofibromatosis type 1 (NF1) or Von Recklinghausen disease manifests as cutaneous café-au-lait spots and neurofibromas. It is one of the most common autosomal dominant genetic diseases. It is extremely variable in its individual manifestation. Cutaneous and neurologic symptoms are the most common manifestations but it can also affect other organs including eyes, bones and other areas. Lisch nodules are the most common ocular manifestations in NF-1. They are asymptomatic small pigmented iris tumors (iris hamartomas) which can help suggest the diagnosis of NF1 as they are characteristic of this disease and mostly occur in adult patients. We report the case of a 45-year old female patient followed for a neurofibromatosis type 1 retained on the presence of multiple cutaneous café-au-lait spots and neurofibromas. Ophthalmologic examination showed visual acuity of 10/10 P3 in both eyes. Biomicroscopic examination showed Lisch nodules of the iris in both eyes (A,B).
Assuntos
Manchas Café com Leite/etiologia , Hamartoma/etiologia , Doenças da Íris/etiologia , Neurofibromatose 1/complicações , Manchas Café com Leite/patologia , Feminino , Hamartoma/patologia , Humanos , Doenças da Íris/patologia , Pessoa de Meia-Idade , Neurofibroma/etiologia , Neurofibroma/patologia , Neurofibromatose 1/fisiopatologia , Acuidade VisualRESUMO
A 38-year-old man presented with excessive height gain and progressive enlargement of the extremities since childhood. This was compounded by lower limb deformities over the past 5 years. On examination, his height was 196 cm, he had macroglossia, acral enlargement, seborrhoea, hyperhidrosis-suggesting acrogigantism. He had facial asymmetry, wind-swept deformity of lower limbs and a café-au-lait macule over his trunk. Investigations revealed normal-sized pituitary gland with dysplastic cranial bones. Isotope bone scintigraphy was suggestive of polyostotic fibrous dysplasia. A diagnosis of McCune-Albright syndrome was made and trans-sphenoidal hypophysectomy was undertaken. He had persistent hypophosphataemia. Tubular reabsorption of phosphate adjusted for glomerular filtration rate was low and serum FGF-23 level was high. Ga-DOTATATE scintigraphy showed somatostatin-receptor expression in all the dysplastic lesions. FGF-23 produced by the bony lesions could counteract the phosphate-retaining effect of GH excess resulting in hypophosphataemia, which further worsened following hypophysectomy.
Assuntos
Acromegalia/etiologia , Displasia Fibrosa Poliostótica/complicações , Hipofosfatemia/etiologia , Adulto , Manchas Café com Leite/etiologia , Assimetria Facial/etiologia , Fator de Crescimento de Fibroblastos 23 , Humanos , Masculino , CintilografiaAssuntos
Doxorrubicina/administração & dosagem , Ifosfamida/administração & dosagem , Neoplasias Pulmonares , Neoplasias de Bainha Neural , Neurofibromatose 1 , Neoplasias Pleurais , Antineoplásicos/administração & dosagem , Manchas Café com Leite/diagnóstico , Manchas Café com Leite/etiologia , Gerenciamento Clínico , Humanos , Neoplasias Pulmonares/patologia , Neoplasias Pulmonares/secundário , Imageamento por Ressonância Magnética/métodos , Masculino , Gradação de Tumores , Estadiamento de Neoplasias , Neoplasias de Bainha Neural/diagnóstico , Neoplasias de Bainha Neural/tratamento farmacológico , Neoplasias de Bainha Neural/patologia , Neoplasias de Bainha Neural/fisiopatologia , Neurofibromatose 1/complicações , Neurofibromatose 1/diagnóstico , Neoplasias Pleurais/patologia , Neoplasias Pleurais/secundário , Tórax/diagnóstico por imagem , Tomografia Computadorizada por Raios X/métodos , Adulto JovemRESUMO
BACKGROUND: Neurofibromatosis type 1 (NF1) is a neurocutaneous disorder caused by loss-of-function mutation in the NF1 gene. Segmental or mosaic NF1 (MNF) is an uncommon presentation of the NF1 result of postzygotic mutations that present with subtle localised clinical findings. OBJECTIVES: Our study's objectives were to describe the clinical characteristics of children with MNF. METHODS: We conducted a cross-sectional study of children diagnosed with MNF at the Hospital for Sick Children in Toronto, Canada, from January 1992 to September 2012. Data were abstracted from health records and analysed using a standardised data collection form approved by our hospital Research Ethics Board. RESULTS: We identified 60 patients with MNF; 32 of 60 (53.3%) were female. Mean ± SD age at first assessment was 10.6 ± 4.6 years. The most common initial physical manifestation in 39 of 60 (65.0%) patients was localised pigmentary changes only, followed by plexiform neurofibromas only in 10 of 60 (16.7%) and neurofibromas only in 9 of 60 (15.0%). Unilateral findings were seen in 46 of 60 (76.7%) patients. Most common associations identified included learning disabilities (7/60; 12%) and bony abnormalities (6/60; 10.0%). CONCLUSIONS: MNF is an underrecognised condition with potential implications for patients. Children mostly present with pigmentary anomalies only. Most patients do not develop associated findings or complications before adulthood, but long-term follow-up will help determine outcomes and possible associations. Recognition and confirmation of the diagnosis is important to provide follow-up and genetic counselling to patients.
Assuntos
Manchas Café com Leite/etiologia , Neurofibroma Plexiforme/etiologia , Neurofibromatoses/complicações , Neoplasias Cutâneas/etiologia , Adolescente , Osso e Ossos/anormalidades , Criança , Pré-Escolar , Estudos Transversais , Feminino , Seguimentos , Genes da Neurofibromatose 1 , Testes Genéticos , Humanos , Deficiências da Aprendizagem/complicações , Masculino , Melanose/etiologia , Mosaicismo , Mutação , Neurofibromatoses/genética , Adulto JovemRESUMO
Neurofibromatosis type 2 is an autosomal dominant hereditary disease with complete penetrance. It gives rise to multiple central and peripheral nervous system tumors, ocular alterations, and various types of skin lesion. In general, neither dermatologists nor other specialists have in-depth knowledge of the clinical manifestations of neurofibromatosis type 2. In some cases, this can lead to delayed diagnosis, which can increase morbidity and mortality. We describe the less well known clinical manifestations of NF2, focusing particularly on skin lesions specific to this disease. Identification of these lesions, when present, can facilitate diagnosis.
Assuntos
Neurofibromatose 2/patologia , Pele/patologia , Manchas Café com Leite/etiologia , Catarata/genética , Criança , Diagnóstico Precoce , Genes da Neurofibromatose 2 , Humanos , Hiperpigmentação/genética , Hipertricose/genética , Técnicas de Diagnóstico Molecular , Neurilemoma/genética , Neurilemoma/patologia , Neurofibromatose 2/diagnóstico , Neuroma Acústico/diagnóstico por imagem , Neuroma Acústico/genética , Prognóstico , Dermatopatias/genética , Dermatopatias/patologiaRESUMO
Fibrous dysplasia (FD) is a rare bone disease caused by postzygotic somatic activating mutations in the GNAS gene, which lead to constitutive activation of adenylyl cyclase and elevated levels of cyclic AMP, which act on downstream signaling pathways and cause normal bone to be replaced with fibrous tissue and abnormal (woven) bone. The bone disease may occur in one bone (monostotic), multiple bones (polyostotic), or in combination with hyperfunctioning endocrinopathies and hyperpigmented skin lesions (in the setting of McCune-Albright Syndrome). FD is common in the craniofacial skeleton, causing significant dysmorphic features, bone pain, and dental anomalies. This review summarizes the pathophysiology, clinical findings, and treatment of FD, with an emphasis on the craniofacial and oral manifestations of the disease.
Assuntos
Displasia Fibrosa Óssea/diagnóstico , Displasia Fibrosa Óssea/terapia , Má Oclusão/etiologia , Manchas Café com Leite/etiologia , Anormalidades Craniofaciais/etiologia , Diagnóstico Diferencial , Assimetria Facial/etiologia , Displasia Fibrosa Óssea/complicações , Displasia Fibrosa Poliostótica/complicações , Displasia Fibrosa Poliostótica/diagnóstico , Displasia Fibrosa Poliostótica/terapia , Humanos , Puberdade Precoce/etiologiaRESUMO
A 37-year-old man with a known history of neurofibromatosis 1 (NF1) presented within 2â days of diarrhoeal illness followed by encephalopathy, facial twitching, hypoglycaemia, hypotension, tachycardia and low-grade fever. Examination showed multiple café-au-lait spots and neurofibromas over the trunk, arms and legs and receptive aphasia with right homonymous hemianopia, which resolved. Workup for cardiac, inflammatory and infectious aetiologies was unrevealing. A brain MRI showed gyral swelling with increased T2 fluid-attenuated inversion recovery signal and diffusion restriction in the left cerebral cortex. Neuroendocrine findings suggested panhypopituitarism with centrally derived adrenal insufficiency. Supportive treatment, hormone supplementation, antibiotics, antivirals and levetiracetam yielded clinical improvement. A follow-up brain MRI showed focal left parieto-occipital atrophy with findings of cortical laminar necrosis. In conclusion, we describe a case of NF1-associated panhypopituitarism presenting as hypoglycaemic seizures and stroke-like findings, hitherto unreported manifestations of NF1. Prompt recognition and treatment of these associated conditions can prevent devastating complications.