Araiza-Atanacio María Isabel, Gris-Calvo Judith, Piña-Ramírez María Juana, Cadena-León José Francisco, Ángeles Eduardo de la Teja, Varón-Munar Diana, García-Romero María Teresa
Secretaría de Salud, Instituto Nacional de Pediatría, Unidad de Apoyo a la Investigación Clínica.
Secretaría de Salud, Instituto Nacional de Pediatría, Servicio de Gastronutrición.
Rev Med Inst Mex Seguro Soc. 2020 Sep 1;58(5):583-592. doi: 10.24875/RMIMSS.M20000088.
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.
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.
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.
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.
EB is a serious multisystem genetic disease, which is why it requires an early diagnosis and a timely detection of complications.
大疱性表皮松解症（EB）是一种遗传性皮肤病，由真皮-表皮交界处蛋白质的突变引起，改变上皮细胞黏附力，导致皮肤和黏膜出现水疱及脱落。
描述在墨西哥城国家儿科研究所就诊的EB患者的人口统计学和临床特征以及主要并发症。
对诊断为EB的18岁以下患者进行了一项观察性、描述性、回顾性横断面研究。排除记录不完整、已清除或已存档的患者。
我们纳入了35例患者，其中17例男性和18例女性，平均年龄为8.94±4.9岁。患者分为营养不良型EB（71.4%）、单纯型EB（17%）、交界型EB（2.9%）和Kindler综合征（2.9%）。所有患者均有皮肤表现，其次是口腔黏膜表现（74.3%）、营养方面（54.2%）、胃肠道（51.4%）、血液学（40%）、眼科（37.1%）、肌肉骨骼（34.2%）和社会心理症状（34.2%）。严重程度因亚型而异；交界型EB和营养不良型EB引起的影响和合并症更严重。
EB是一种严重的多系统遗传病，因此需要早期诊断并及时发现并发症。
