Epidermolysis bullosa in children: a retrospective study in a reference hospital.
| Autor: | Araiza-Atanacio MI; Secretaría de Salud, Instituto Nacional de Pediatría, Unidad de Apoyo a la Investigación Clínica., Gris-Calvo J; Secretaría de Salud, Instituto Nacional de Pediatría, Servicio de Gastronutrición., Piña-Ramírez MJ; Secretaría de Salud, Instituto Nacional de Pediatría, Servicio de Salud Mental., Cadena-León JF; Secretaría de Salud, Instituto Nacional de Pediatría, Servicio de Gastronutrición., Ángeles ET; Secretaría de Salud, Instituto Nacional de Pediatría, Servicio de Estomatología., Varón-Munar D; Secretaría de Salud, Instituto Nacional de Pediatría, Servicio de Oftalmología., García-Romero MT; Secretaría de Salud, Instituto Nacional de Pediatría, Servicio de Dermatología. Ciudad de México, México. |
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| Jazyk: | Spanish; Castilian |
| Zdroj: | Revista medica del Instituto Mexicano del Seguro Social [Rev Med Inst Mex Seguro Soc] 2020 Sep 01; Vol. 58 (5), pp. 583-592. Date of Electronic Publication: 2020 Sep 01. |
| DOI: | 10.24875/RMIMSS.M20000088 |
| Abstrakt: | Background: Epidermolysis bullosa (EB) is a genodermatosis caused by mutations in the proteins of the dermal-epidermal junction, altering the epithelial cohesion, and generating blisters and shedding of skin and mucous membranes. Objective: To describe the demographic and clinical characteristics, as well as the main complications of patients with EB attended at the National Institute of Pediatrics, in Mexico City. Method: An observational, descriptive, retrospective and cross-sectional study was conducted in patients under 18 years of age with diagnosis of EB. Patients with incomplete, purged or archived records were excluded. Results: We included 35 patients, 17 men and 18 women with an average age of 8.94 ± 4.9 years. Patients were classified as dystrophic EB (71.4%), EB simplex (17%), junctional EB (2.9%) and Kindler syndrome (2.9%). All patients presented skin manifestations, followed by manifestations in oral mucosa (74.3%), nutritional (54.2%), gastrointestinal (51.4%), hematological (40%), ophthalmological (37.1%), musculoskeletal (34.2%) and psychosocial symptoms (34.2%). The degree of severity was variable according to the subtype; junctional EB and dystrophic EB are those that generate greater affection and comorbidity. Conclusions: EB is a serious multisystem genetic disease, which is why it requires an early diagnosis and a timely detection of complications. (Copyright: © 2020 Revista Medica del Instituto Mexicano del Seguro Social.) |
| Databáze: | MEDLINE |
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