Leucoplasias bucais: relação clínico-histopatológica

The relation between the clinical aspects and histologic characteristics of oral leukoplakias was evaluated on 28 adult patients presenting with oral leukoplakia. The lesions were clinically classified as homogeneous and nonhomogeneous, and divided regarding their histopathologic characteristics in six groups: hyperkeratosis without epithelial dysplasia; mild epithelial dysplasia; moderate epithelial dysplasia; severe epithelial dysplasia, squamous cell carcinoma in situ and invasive carcinoma. Homogeneous leukoplakia comprised 78.6% of the cases and nonhomogeneous, 21.4%. Microscopically, 32.2% of the lesions disclosed hyperkeratosis without evidences of epithelial dysplasia, 53.5% epithelial dysplasia (39.3% mild, 7.1% moderate, and 7.1% severe) and 14.3% invasive carcinoma. Homogeneous leukoplakia showed discreet histologic changes, while nonhomogeneous lesions evidenced histologic characteristics of severe epithelial dysplasia and even of invasive carcinoma. The results suggest great precaution in the diagnosis and follow-up of leukoplakia, considering the possibility of malignant transformation.A relação entre o aspecto clínico e as características histológicas das leucoplasias bucais foi avaliada em 28 pacientes adultos, que apresentaram lesões leucoplásicas na mucosa bucal. As lesões foram divididas quanto ao aspecto clínico em homogêneas e não-homogêneas, e classificadas segundo suas características histopatológicas em seis grupos: hiperceratose com ausência de displasia epitelial; displasia epitelial leve; displasia epitelial moderada; displasia epitelial severa, carcinoma in situ e carcinoma invasivo. Os resultados clínicos mostraram maior ocorrência de leucoplasias homogêneas (78,6%) do que não-homogêneas (21,4%). Os achados histopatológicos demonstraram que 32,2% dos casos apresentaram hiperceratose com ausência de displasia epitelial, 53,5% evidenciaram displasia epitelial (39,3% leve, 7,1% moderada e 7,1% severa) e 14,3% diagnosticados como carcinoma invasivo. As leucoplasias homogêneas apresentaram alterações celulares discretas, enquanto as não-homogêneas evidenciaram displasia epitelial severa e carcinoma invasivo. Os resultados sugerem um maior cuidado no diagnóstico e controle de leucoplasias dada a possibilidade de transformação maligna

FIBROMA OSIFICANTE PERIFÉRICO: PRESENTACION DE CASO CLÍNICO

Fibroma Osificante Periférico (FOP) es considerado como un crecimiento no neoplásico de la encía, clasificado como una lesión reactiva hiperplásica inflamatoria. El FOP ha sido ampliamente acepto que su histogénesis ocurre a partir de la membrana del periostio o del ligamento periodontal. El tratamiento de escoja es la remoción quirúrgica, debiéndose extender la incisión al periostio y ligamento periodontal. Este trabajo tiene como objetivo de reportar un caso clínico de Fibroma Osificante Periférico en una mujer de 40 años, localizado en la tuberosidad derecha del maxilar. Se discutirá, a través de una breve revisión bibliográfica, la patogenia, aspectos clínicos y radiográficos y tratamiento de esta lesión.SUMMARYPeripheral ossifying fibroma (POF) is considered a non-neoplastic growth of the gum, classified as a reactive hyperplastic inflammatory lesion. The FOP has been widely accepted that its histogenesis occurs from the membrane of periosteum or periodontal ligament. The treatment of choice is surgical removal, whichever extend the incision to the periosteum and periodontal ligament. This work aims at reporting a clinical case of peripheral ossifying fibroma in a 40-year-old patient, situated in the right maxillary tuberosity. We shall discuss, through a brief review of literature, the ethiopathogeny, clinical and radiographic aspects, as well as the treatment of this lesion

Unraveling the genetic background of individuals with a clinical familial hypercholesterolemia phenotype

Familial hypercholesterolemia (FH) is a common genetic disorder of lipid metabolism caused by pathogenic/likely pathogenic variants in LDLR, APOB, and PCSK9 genes. Variants in FH-phenocopy genes (LDLRAP1, APOE, LIPA, ABCG5, and ABCG8), polygenic hypercholesterolemia, and hyperlipoprotein (a) [Lp(a)] can also mimic a clinical FH phenotype. We aim to present a new diagnostic tool to unravel the genetic background of clinical FH phenotype. Biochemical and genetic study was performed in 1,005 individuals with clinical diagnosis of FH, referred to the Portuguese FH Study. A next-generation sequencing panel, covering eight genes and eight SNPs to determine LDL-C polygenic risk score and LPA genetic score, was validated, and used in this study. FH was genetically confirmed in 417 index cases: 408 heterozygotes and 9 homozygotes. Cascade screening increased the identification to 1,000 FH individuals, including 11 homozygotes. FH-negative individuals (phenotype positive and genotype negative) have Lp(a) >50 mg/dl (30%), high polygenic risk score (16%), other monogenic lipid metabolism disorders (1%), and heterozygous pathogenic variants in FH-phenocopy genes (2%). Heterozygous variants of uncertain significance were identified in primary genes (12%) and phenocopy genes (7%). Overall, 42% of our cohort was genetically confirmed with FH. In the remaining individuals, other causes for high LDL-C were identified in 68%. Hyper-Lp(a) or polygenic hypercholesterolemia may be the cause of the clinical FH phenotype in almost half of FH-negative individuals. A small part has pathogenic variants in ABCG5/ABCG8 in heterozygosity that can cause hypercholesterolemia and should be further investigated. This extended next-generation sequencing panel identifies individuals with FH and FH-phenocopies, allowing to personalize each person’s treatment according to the affected pathway