ABSTRACT
Introducción: La morfea o esclerodermia localizada juvenil (ELJ) es una enfermedad autoinmune, inflamatoria, crónica, lenta y progresiva del tejido conectivo, de causa desconocida, que afecta preferentemente la piel y los tejidos subyacentes. Objetivos: Comunicar un caso de esclerodermia localizada juvenil en una escolar, y contribuir a un diagnóstico y tratamiento oportuno de esta patología. Caso clínico: Niña de 8 años con placas induradas hipopigmentadas, de distribución lineal en la extremidad superior derecha de 2 años de evolución y placas induradas hiperpigmentadas de textura acartonada, con áreas de piel adelgazada, blanquecina y edema en la pierna y el tobillo. Los elementos clínicos y los exámenes de apoyo diagnóstico, incluyendo la histología, fueron compatibles con ELJ lineal, panesclerótica. Se inició tratamiento inmunosupresor y simultáneamente realizó fisioterapia y terapia ocupacional intensivas. Conclusiones: Presentamos un caso de ELJ de tipo lineal y panesclerótico, en el que hubo retraso de 2 años en el diagnóstico, no obstante la respuesta al tratamiento inmunosupresor fue favorable según lo esperado.
Introduction: Morphea or juvenile localised scleroderma (JLS) is an autoimmune, inflammatory, chronic, slowly progressive connective tissue disease of unknown cause that preferably affects skin and underlying tissues. Objective: To report a case of Juvenil Localised scleroderma in an 8-year old girl, contributing to an early diagnosis and treatment. Clinical case: The case is presented of an 8 year-old girl who presented with indurated hypopigmented plaques, of linear distribution in the right upper extremity of two years onset, together with papery texture hyperpigmented indurated plaques with whitish areas of thinned skin in right lower extremity, and leg and ankle swelling. The clinical features and diagnostic tests, including histology were compatible with linear and pansclerotic JLS. She started with immunosuppressive therapy, physiotherapy, and occupational therapy. Conclusions: We report a case of linear and pansclerotic ELJ type, in which there was a 2 year delay in diagnosis, however the response to treatment was positive as expected.
Subject(s)
Humans , Female , Child , Scleroderma, Localized/diagnosis , Occupational Therapy/methods , Physical Therapy Modalities , Immunosuppressive Agents/therapeutic use , Scleroderma, Localized/pathology , Scleroderma, Localized/therapy , Treatment Outcome , Disease Progression , Delayed DiagnosisABSTRACT
Background: The quality of the archival samples stored at pathology services could be a limiting factor for molecular biology studies. Aim: To determine the quality of DNA extracted from gallbladder cancer samples at different institutions. Material and Methods: One hundred ninety four samples coming from fve medical centers in Chile, were analyzed. DNA extraction was quantifed determining genomic DNA concentration. The integrity of DNA was determined by polymerase chain reaction amplification of different length fragments of a constitutive gene (β-globin products of 110, 268 and 501 base pairs). Results: The mean DNA concentration obtained in 194 gallbladder cancer samples was 48 ± 43.1 ng/µl. In 22% of samples, no amplification was achieved despite obtaining a mean DNA concentration of 58.3 ng/ul. In 81, 67 and 22% of samples, a DNA amplification of at least 110, 268 or 501 base pairs was obtained, respectively. No differences in DNA concentration according to the source of the samples were demonstrated. However, there were marked differences in DNA integrity among participating centers. Samples from public hospitals were of lower quality than those from private clinics. Conclusions: Despite some limitations, in 80% of cases, the integrity of DNA in archival samples from pathology services in our country would allow the use of molecular biology techniques.