Resumo: Esclerose tuberosa é uma condição rara e autossômica dominante. Miofibroblastos são células que exibem fenótipo híbrido entre fibroblastos e células musculares lisas. O objetivo deste caso clínico é mostrar as características clínicas e histopatológicas da esclerose tuberosa e avaliar miofibroblastos nos angiofibromas cutâneos dessa condição. Lesões removidas foram coradas em HE e tricrômico de Masson. Para determinar a presença de miofibroblastos foi usada imunoistoquímica para α-SMA. Essa reação mostrou-se negativa para miofibroblastos. Como α-SMA é um marcador específico para essas células, esse resultado sugere que miofibroblastos não estejam envolvidos com os angiofibromas da esclerose tuberosa descrita. Palavras-chave: Angiofibroma; Esclerose tuberosa; Genética Abstract: Tuberous sclerosis is a rare autosomal dominant disorder. Myofibroblasts are cells with a hybrid phenotype between fibroblasts and smooth muscle cells. The objective of this study is to describe clinical and histopathological characteristics of tuberous sclerosis and to conduct an immunohistochemical evaluation of myofibroblasts in cutaneous angiofibromas present in this condition. Lesion sections removed were stained with hematoxylin-eosin and Masson's trichrome. Immunohistochemistry against α-SMA was done to determine the presence of myofibroblasts, and the reaction was negative. Since α-SMA is a specific marker for myofibroblasts, this result suggests that myofibroblasts are not involved in cutaneous angiofibromas present in the tuberous sclerosis case reported. Keywords: Angiofibroma; Genetics; Tuberous sclerosis INTRODUÇÃOEsclerose tuberosa (ET) é uma doença congênita, genética, autossômica dominante, com alta penetrância e expressividade variada. É uma condição de distribuição universal, sem predileção para raça ou gênero.1 A prevalência estimada é de 1:10.000 nativivos; 2 contudo em mais de 50% dos casos pode apresentar incidência de 1:50.000 a 1:300.000, devido a elevada frequência de novas mutações.3 Cerca de 50% a 84% das ocorrências não apresentam história familial. 3A ET é uma condição multissistêmica, caracterizada em sua forma complexa por lesões que atingem encéfalo, rins, pulmões, pele e outros órgãos. 4 As manifestações cutaneomucosas raramente surgem durante o nascimento e aparecem no período da puberdade.1 As lesões cutâneas clássicas referem-se aos múltiplos angiofibromas na face, que surgem geralmente entre os cinco anos e a puberdade. Normalmente os angiofibromas localizam-se na face, podendo assumir a distribuição em "asa de borboleta"
The purpose of the present study was to evaluate the prevalence of teeth malposition (rotated) in Brazilian patients with oral clefts and to contribute to the definition of subphenotypes. This study included 317 patients with nonsyndromic cleft lip with or without cleft palate. Tooth malposition was assessed clinically, through radiographs, and medical history records for each individual. Only teeth malpositions outside the area of the clefts were included. Comparisons were assessed by cross-tabulation and standard chi-square test, and statistical significance was set at p≤0.05. Cleft lip and palate was more prevalent in males, while cleft palate was more common in females. Regarding the presence of tooth malposition, of the 317 patients, 92 (29.02%) had at least one tooth with the dental anomaly. Tooth malposition was more common in patients with cleft lip and palate (16.1%), followed by, respectively, cleft palate (6.9%) and cleft lip (6%) (p=0.112). The highest occurrence of tooth malposition was in the mandible and involved the canines (p<0.01). Few studies have investigated the prevalence of tooth malposition in individuals with nonsyndromic cleft lip with or without cleft palate. Our results confirmed the highest occurrence of dental anomalies, particularly tooth malposition, in patients with oral clefts. Our findings also highlight that there was a higher occurrence of this condition in the mandible and not the maxilla.
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