An Update on Neurofibromatosis Type 1: Not Just Café-au-Lait Spots, Freckling, and Neurofibromas. An Update. Part I. Dermatological Clinical Criteria Diagnostic of the Disease

Hernández‐Martín, Ángela; Duat-Rodríguez, Anna

doi:10.1016/j.adengl.2016.05.015

Cited by 19 publications

(59 citation statements)

References 54 publications

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“…18 A sua transmissão é autossómica dominante, embora frequentemente as mutações sejam de novo, podendo por este motivo não existir história familiar. Deve-se à mutação do gene da neurofibromina, localizado no cromossoma 17.…”

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“…20 As manifestações clínicas da NF1 são muito variáveis e dependem da idade do indivíduo afetado. 18 Os critérios de diagnóstico clínico para a NF1 foram atualizados pelo National Institute of Health (NIH), devendo ser cumpridos pelo menos dois:…”

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“…Habitualmente estão presentes ao nascimento ou surgem pouco tempo depois, sendo que cerca de 90% dos doentes as desenvolvem no primeiro ano de vida. 18 Clinicamente apresentam uma coloração acastanhada homogénea e um bordo liso e regular. A tonalidade é variável, sendo claras na infância precoce, escurecendo ao longo da infância tardia e voltando a clarear na idade adulta.…”

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“…Em alguns doentes com NF1 podem observar-se manchas hiperpigmentadas irregulares, com ou sem hipertricose associada, que podem corresponder a neurofibromas plexiformes superficiais e são por vezes confundidos com MCL gigantes. 18 As efélides axilares e inguinais são incluídas nos critérios diagnósticos da NF1 (Fig. 6).…”

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“…Os neurofibromas subcutâneos e os profundos correspondem aos denominados neurofibromas plexiformes na classificação NIH. 18 Os neurofibromas cutâneos são os mais frequentes surgindo habitualmente após os 8 anos de vida e aumentando de número com a idade. Caraterizam-se por…”

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Manifestações Cutâneas das Rasopatias

Sousa

Fonseca

Cordeiro

et al. 2017

SPDV

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INTRODUÇÃOOs genes da família RAS codificam uma família de proteí-nas essenciais nas vias de sinalização intracelular e que regulam funções como a sobrevivência, proliferação, diferenciação e senescência celulares.1 Um grupo heterogéneo de doenças genéticas denominadas rasopatias apresentam mutações na linha germinativa dos genes que codificam proteínas da via de sinalização RAS/MAPK.2 Estas doenças têm espetros clínicos distintos mas sobreponíveis nalguns aspetos, predispondo ao desenvolvimento de neoplasias e alterações da mielopoiese na infância. 3O reconhecimento do fenótipo permite o diagnóstico clí-nico das rasopatias, sendo que este pode ser confirmado na maioria dos casos, pelo recurso a estudos genéticos e moleculares. O tratamento das rasopatias é orientado para o controlo dos sintomas, com um seguimento clínico periódico que visa o diagnóstico precoce das complicações associadas, nomeadamente das doenças cardiovasculares e neoplasias. A VIA DE SINALIZAÇÃO RAS/MAPKOs genes da via RAS (Rat Sarcoma) são responsáveis pelas Revista SPDV 75(1) 2017; Manifestações cutâneas das rasopatias; Virgínia Coelho de Sousa, Inês Marques Fonseca, Ana Cordeiro, Maria João Paiva Lopes. Manifestações Cutâneas das Rasopatias

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Manifestações Cutâneas das Rasopatias

Sousa

Fonseca

Cordeiro

et al. 2017

SPDV

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Epidemiological profile and clinical characteristics of 491 Brazilian patients with neurofibromatosis type 1

et al. 2022

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Background:Neurofibromatosis type 1 (NF1) is a chronic and progressive autosomal dominant genetic and sporadic disease characterized by cutaneous and neurological abnormalities. Plexiform neurofibroma (PN), a significant cause of clinical complications in NF-1, is a benign tumor of the peripheral nerve sheath that involves multiple nerve fascicles. Although there is an important number of patients who are affected by NF1 in Brazil, there is little data on the behavior of the disease in the national literature as well as in other low-and middle-income countries. Methods:We performed a retrospective analysis of 491 patients with NF1 followed at two reference centers in Brazil.Results: Approximately 38% of patients had PNs, resulting in reduced life quality. The median patient age with PNs was 30 years (range: 6 to 83 years). Head and neck, and extremity were the main affected locations with 35.8 and 30.6%, respectively. PNs were classified as asymptomatic in 25.1% of patients, while 52.5% presented symptomatic and inoperable tumors. The most common manifestations related to PNs were disfigurement and orthopedic involvement. Twenty patients developed neoplasms and ten (50%) presented with malignant peripheral nerve sheath tumors (MPNST). The prevalence of MPNST in our study was 2.9%. Conclusions:Patients with NF1 experience clinically significant morbidity, especially when it is associated with PN. Though there are many patients affected by NF1 in Brazil and other low-and middle-income countries, there is little data available in the corresponding literature. Our results are comparable to the previous results reported from higher-income countries and international registries.

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Treatment of Café‐Au‐Lait Spots Using Q‐Switched Alexandrite Laser: Analysis of Clinical Characteristics of 471 Children in Mainland China

Zhang

Chu

et al. 2019

Lasers Surg Med

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Background and Objectives Café‐au‐lait spots, also known as café‐au‐lait macules (CALMs), are a common pigmentary disorder. Although various laser modalities have been used to treat CALMs, the efficacy of laser treatment in children differs from that in adults. We investigated the efficacy, safety, and clinical factors of the treatment of CALMs using Q‐switched alexandrite laser (755 nm) therapy in children. Methods In total, 471 children with CALMs underwent Q‐switched alexandrite laser therapy at a treatment interval of 3–12 months. The safety and efficacy of the laser treatment were evaluated by reviewing clinical records and photographs before and after treatments. Results Of the 471 patients, 140 (29.72%) were cured completely, 124 (26.33%) showed substantial improvement, 110 (23.35%) showed improvement, and 97 (20.60%) showed no improvement after one to nine treatments. The overall treatment success rate was 79.41%, and the treatment efficacy was positively correlated with the number of laser treatments (rs = 0.26, P < 0.0001). Sex and the interval of laser treatments were also associated with significant differences in treatment outcomes (P < 0.05). No obvious adverse effects were observed. Multivariate logistic regression analysis showed that the number of treatments influenced the treatment efficacy (odds ratio, 2.130; 95% confidence interval, 1.561–2.908). Conclusions Q‐switched alexandrite laser (755 nm) therapy is safe and highly effective for CALMs in children, and the number of treatments affects the treatment efficacy. Lasers Surg. Med. © 2019 The Authors. Lasers in Surgery and Medicine Published by Wiley Periodicals, Inc.

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An Update on Neurofibromatosis Type 1: Not Just Café-au-Lait Spots, Freckling, and Neurofibromas. An Update. Part I. Dermatological Clinical Criteria Diagnostic of the Disease

Cited by 19 publications

References 54 publications

Manifestações Cutâneas das Rasopatias

Manifestações Cutâneas das Rasopatias

Epidemiological profile and clinical characteristics of 491 Brazilian patients with neurofibromatosis type 1

Treatment of Café‐Au‐Lait Spots Using Q‐Switched Alexandrite Laser: Analysis of Clinical Characteristics of 471 Children in Mainland China

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