Epidermolysis Bullosa in Spain: Observational Study of a Cohort of Patients Treated in a National Referral Center Articles uri icon

authors

  • MASEDA PEDRERO, ROCIO
  • QUINTANA CASTAÑEDO, LUCÍA
  • PÉREZ CONDE, ISABEL MARÍA
  • JIMÉNEZ GONZÁLEZ, MARÍA
  • ESCAMEZ TOLEDANO, MARIA JOSE
  • DE LUCAS LAGUNA, RAUL

publication date

  • October 2021

start page

  • 781

end page

  • 793

issue

  • 9

volume

  • 112

International Standard Serial Number (ISSN)

  • 0001-7310

Electronic International Standard Serial Number (EISSN)

  • 1578-2190

abstract

  • 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.

subjects

  • Medicine

keywords

  • epidermolysis bullosa; epidermolysis bullosa simplex; junctional epidermolysis bullosa; dystrophic epidermolysis bullosa; kindler syndrome