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A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts
Published on: September 20, 2018
Epidermolysis bullosa in children: a retrospective study in a reference hospital
María Isabel Araiza-Atanacio1, Judith Gris-Calvo2, María Juana Piña-Ramírez3
1Secretaría de Salud, Instituto Nacional de Pediatría, Unidad de Apoyo a la Investigación Clínica.
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.
