RT Journal Article
T1 Epidermolysis Bullosa in Spain: Observational Study of a Cohort of Patients Treated in a National Referral Center
T2 Epidermólisis bullosa en Espa˜na: Estudio observacional de una cohorte de pacientes atendidos en un centro de referencia nacional
A1 Maseda Pedrero, Rocio
A1 Quintana Castañedo, Lucía
A1 Pérez Conde, Isabel María
A1 Jiménez González, María
A1 Escamez Toledano, Maria Jose
A1 De Lucas Laguna, Raul
AB Background and objective: Epidermolysis bullosa (EB) is a heterogeneous group of inherited disorders characterized by a high degree of mucocutaneous fragility. This study aimed to describe the clinical and epidemiologic characteristics of patients with EB treated in Hospital Universitario La Paz, a national referral center for inherited EB. Material and methods: Observational, retrospective, single-center study. We included all cases with a clinical and molecular diagnosis of EB managed in the hospital's dermatology department from January 2, 2000, to February 28, 2021. Results: A total of 214 cases were studied. The median (interquartile range) age was 17 (8---32) years; 54.2% were women. One hundred thirty-five (63.1%) patients had dystrophic EB, 67 (31.3%) had EB simplex, 8 (3.7%) had junctional EB, and 3 (1.4%) had Kindler syndrome. One (0.5%) had EB acquisita. Over a third (35.5%) of the patients resided in Madrid. The most common clinical complications were pruritus (63.1%), local infections (56.5%), and pain (54.7%). The most serious ones were cardiomyopathy (in 5.6%) and squamous cell carcinoma (10.3%). Twenty-two patients (10.3%) died.
PB ELSEVIER BV
SN 1578-2190
YR 2021
FD 2021-10-08
LK https://hdl.handle.net/10016/34439
UL https://hdl.handle.net/10016/34439
LA eng
DS e-Archivo
RD 27 jul. 2024