Carcinoma escamocelular de labio superior en paciente con síndrome nevoide basocelular. Reporte de caso clínico / Upper-Lip Squamous Cell Carcinoma in Patients with Nevoid Basal Cell Carcinoma Syndrome. A Clinical Case Report

Antecedentes: El síndrome de Gorlin-Goltz, o síndrome nevoide de células básales (SNCB), es un trastorno autosómico dominante de baja incidencia. Su etiología se relaciona con una mutación en el gen PTCH y afecta los sistemas esquelético, oftalmológico y neurológico. Su prevalencia es de 1:60.000 y las mutaciones de novo se presentan aproximadamente en un 20 % a 30 % de los casos. Objetivo: Describir el proceso diagnóstico y manejo de un caso de esporádica presentación de una paciente con SNCB con carcinoma escamocelular (CEC) en labio superior. Descripción del caso: Se trató de una mujer de 58 años, quien asistió a consulta odontológica por motivos estéticos y funcionales. Se encontró un CEC (confirmado por inmunohistoquímica) asintomático delimitado en el lado izquierdo del labio superior, con erosiones de color rojizo y costra. No se encontraron linfoadenopatías asociadas. También evidenció fisuras palmoplantares y múltiples carcinomas basocelulares en la espalda y el dorso de la mano izquierda (con antecedentes familiares similares). Radiográficamente, no se observaron queratoquistes mandibulares que usualmente se asocian con el síndrome de Gorlin-Goltz. Conclusiones: Se diagnosticó SNCB en la paciente, pues presentaba dos criterios mayores (dos o más CBC y piqueteado palmoplantar) y dos menores (calcificación laminar de la hoz del cerebro y antecedente de fibromas ováricos). El tratamiento odontológico se planeó y se remitió a la paciente a la institución pertinente para manejar su condición sistémica.

Background: Gorlin-Goltz syndrome or nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder with low incidence. The etiology' is associated with a PTCH gene mutation and affects the skeletal, ophthalmic and neurological systems. The prevalence is 1:60,000 and de novo mutations occur approximately in 20% to 30% of the cases. Objective: To describe the diagnosis and management process for a rare case of a NBCCS patient who developed squamous cell carcinoma (SCC) in the upper lip. Case Description: The patient is a 58 year-old woman who attended to the dental office for aesthetic and functional reasons. An asymptomatic SCC was found (confirmed after immunohistochemical evidence) with defined limits to the left of the upper lip. It showed reddish erosions and some scab. No associated lymphadenopathies were found. The patient had some plantar foot fissures and multiple carcinoma basal cells in the back and in the left hand dorsum (with similar family previous cases). No maxillary keratocyst were observed in the radiographs, notwithstanding they are always associated with the Gorlin-Goltz syndrome. Conclusions: The patient was diagnosed with NBCCS based on two main criteria (two or more SCC lesions and plantar foot fissures) and two mild criteria (laminar calcification in the cerebral falx and family background of ovarian fibromas). A dental treatment was designed, and the patient was referred to another institution for a systemic treatment of her disease.

Cuestionamiento éticos relacionados con la terapia génica para el tratamiento de enfermedades hereditarias / Ethial questioniing related to gene theraphy for inherited diseases treatment

La introducción de secuencias genéticas exógenas denominadas transgenes se denomina terapia génica, y tiene el propósito de corregir alteraciones genotípicas o fenotípicas en el organismo humano. Esta terapia puede realizarse en células somáticas o en células germinales; los cuestionamientos éticos relacionados con la terapia génica somática tienen que ver básicamente con los riesgos potenciales para la salud y el consentimiento informado, mientras que la terapia génica en células germinales tiene el potencial de afectar permanentemente a futuras generaciones de personas. Debido a que la terapia génica involucra mucho más que la simple alteración de las secuencias genéticas, esta revisión presenta los principales problemas éticos asociados con la terapia génica para enfermedades hereditarias.

The introduction of exogenous genetic sequences named transgenes is known as gene therapy and has the purpose of correcting genotypic and phenotypic alterations in the human organism. This therapy can be carried out in somatic cells or in germinal cells. The ethical questioning related to somatic gene therapy has to do basically with the potential risks for health and the informed consent while germ-line gene therapy has the potential to affect permanently future generations. Since genic therapy involves much more than the simple alteration of genetic sequences, this revision presents the main ethical problems associated with gene therapy for inherited disease.

Defeitos congênitos em bovinos da Região Central do Rio Grande do Sul / Congenital defects in cattle from central Rio Grande do Sul, Brazil

Foram revisados casos de defeitos congênitos (DCs) diagnosticados em bovinos no Laboratório de Patologia da Universidade Federal de Santa Maria em 1964-2010. Durante o período estudado, foram examinados materiais provenientes da necropsia de 7.132 bovinos e foram encontrados 31 bezerros (0,4 por cento) com DCs, os quais foram classificados em 34 tipos e alocados nos sistemas orgânicos primariamente afetados. Os DCs ocorriam isoladamente (19 [61,3 por cento]) ou afetavam múltiplos sítios anatômicos (15 [28,7 por cento]) com frequência semelhante em ambos os sexos. Como vários terneiros mostraram múltiplos DCs, um total de 53 DCs foi computado. Dos 53 DCs diagnosticados, 15 (28,3 por cento) afetavam o sistema nervoso central (craniósquise [4], abiotrofia cerebelar [2], degeneração esponjosa [2], hidrocefalia [2], meningocele [2], espinha bífida [1], hipoplasia cerebelar [1] e hipomielinogênese [1]); nove (17,0 por cento) afetavam o sistema urogenital (agenesia testicular [1], agenesia vaginal [1], hipoplasia peniana [1], formação de cloaca [1], freemartinismo [1], hamartoma vascular de ovário [1], hipoplasia renal [1], cistos renais [1] e úraco persistente [1]); oito DCs (15,1 por cento) eram primários do sistema musculoesquelético (artrogripose [4], escoliose [1], plagiocefalia, [1] schistosomus reflexus [1] e diprosopia [1]); e outros oito (15,1 por cento) foram alocados no sistema digestivo (palatosquise [3], atresia anal [1], atresia anorretal [1], atresia - anocolônica [1], fístula reto-vaginal [1] e fístula reto-uretral [1]); em cinco ocasiões (9,4 por cento) o DC afetava o sistema cardiovascular (persistência do ducto arterioso [2], persistência do forame oval [2] e defeito do septo ventricular [1]); quatro (7,5 por cento) afetavam o sistema linfático e consistiam de hipoplasia ou aplasia de vasos linfáticos e linfonodos associadas a linfedema. Dois casos (3,4 por cento), de hipotricose foram observados afetando o integumento; um caso (1,9 por cento) de estenose traqueal foi encontrado no sistema respiratório e um caso (1,9 por cento) de bócio envolvia o sistema endócrino. Os resultados indicam que a maioria dos DCs em bovinos na Região Central do Rio Grande do sul é esporádica. No entanto, seu estudo continuado é importante para o estabelecimento de sua etiologia e controle.

Cases of congenital defects (CDs) in cattle diagnosed at the Laboratory of Veterinary Pathology of the Federal University of Santa Maria from 1964 to 2010 were reviewed. During the studied period tissues collected from the necropsy of 7,132 cattle were examined and 31 calves (0.4 percent) with CDs were found. These CDs were classified into 34 different types and ascribed to the body system primarily affected. CDs were solitary (19 [61.3 percent]) or multiple (12 [38.7 percent]) and found with similar frequency in calves of both sexes. As several calves displayed multiple defects, a total of 53 CDs were computed. Out of the 53types of CDs diagnosed 15 (28.3 percent) affected the central nervous system (cranioschisis [4], cerebellar abiotrophy [2], spongy degeneration [2], hydrocephalus [2], meningocele [2], spina bifida [1], cerebellar hypoplasia [1], and hypomyelinogenesis [1]); nine (17.0 percent) affected the urogenital system (testicular agenesis [1], vaginal agenesia [1], penile hypoplasia [1], cloacal formation [1], freemartinism [1], ovarian vascular hamartoma [1], renal hypoplasia [1], renal cysts [1], and persistent urachus [1]); eight CDs (15,1 percent) were primary to the musculoskeletal system (arthrogryposis [4], scoliosis [1], plagiocephaly [1] schistosomus reflexus [1], and diprosopus [1]) and another eight (15,1 percent) were in the digestive system (palatoschisis [3], anal atresia [1], anorectal atresia [1], ano-colonic atresia [1], recto-vaginal fistula [1], and recto-urethral fistula [1]); in five instances (9.4 percent) the CD affected the cardiovascular system (persistent ductus arteriosus [2], persistence of foramen ovale [2], and ventricular septal defect [1]); four (7.5 percent) affected the lymphatic system and consisted of inherited hypoplasia or aplasia of lymphatic vessels and lymph nodes associated with lymphedema. Two cases (3.0 percent), of hypotrichosis were observed affecting the integument; one case (1.9 percent) of tracheal stenosis was found in the respiratory system and one case of goiter (1.9 percent) involved the endocrine system. The results of this survey inidicate that the majority o CDs in cattle in the central Rio Grande do Sul are sporadic; nevertheless their continued study is important for determining the etiology and control.