Epidermolysis Bullosa in Spain : Observational Study of a Cohort of Patients Treated in a National Referral Center
Copyright © 2021 AEDV. Publicado por Elsevier España, S.L.U. All rights reserved..
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.
CONCLUSIONS: Dystrophic EB was the most prevalent clinical form. The most prevalent complications were pruritus, pain, and infections. The most serious ones were cardiomyopathy and squamous cell carcinoma. This study is the first in Spain that explores strategies for improving the health status and quality of life of patients with EB.
| Medienart: |
E-Artikel |
|---|
| Erscheinungsjahr: |
2021 |
|---|---|
| Erschienen: |
2021 |
| Enthalten in: |
Zur Gesamtaufnahme - year:2021 |
|---|---|
| Enthalten in: |
Actas dermo-sifiliograficas - (2021) vom: 10. Mai |
| Sprache: |
Englisch |
|---|
| Weiterer Titel: |
Epidermólisis bullosa en España: Estudio observacional de una cohorte de pacientes atendidos en un centro de referencia nacional |
|---|
| Beteiligte Personen: |
Maseda Pedrero, R [VerfasserIn] |
|---|
| Links: |
|---|
| Anmerkungen: |
Date Revised 22.02.2024 published: Print-Electronic Citation Status Publisher |
|---|
| doi: |
10.1016/j.ad.2021.04.006 |
|---|
| funding: |
|
|---|---|
| Förderinstitution / Projekttitel: |
|
| PPN (Katalog-ID): |
NLM325356947 |
|---|
| LEADER | 01000caa a22002652 4500 | ||
|---|---|---|---|
| 001 | NLM325356947 | ||
| 003 | DE-627 | ||
| 005 | 20240229143409.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 231225s2021 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1016/j.ad.2021.04.006 |2 doi | |
| 028 | 5 | 2 | |a pubmed24n1303.xml |
| 035 | |a (DE-627)NLM325356947 | ||
| 035 | |a (NLM)33984313 | ||
| 035 | |a (PII)S0001-7310(21)00176-9 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rakwb | ||
| 041 | |a eng | ||
| 100 | 1 | |a Maseda Pedrero, R |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a Epidermolysis Bullosa in Spain |b Observational Study of a Cohort of Patients Treated in a National Referral Center |
| 246 | 3 | 3 | |a Epidermólisis bullosa en España: Estudio observacional de una cohorte de pacientes atendidos en un centro de referencia nacional |
| 264 | 1 | |c 2021 | |
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a ƒaComputermedien |b c |2 rdamedia | ||
| 338 | |a ƒa Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Date Revised 22.02.2024 | ||
| 500 | |a published: Print-Electronic | ||
| 500 | |a Citation Status Publisher | ||
| 520 | |a Copyright © 2021 AEDV. Publicado por Elsevier España, S.L.U. All rights reserved. | ||
| 520 | |a 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 | ||
| 520 | |a 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 | ||
| 520 | |a 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 | ||
| 520 | |a CONCLUSIONS: Dystrophic EB was the most prevalent clinical form. The most prevalent complications were pruritus, pain, and infections. The most serious ones were cardiomyopathy and squamous cell carcinoma. This study is the first in Spain that explores strategies for improving the health status and quality of life of patients with EB | ||
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Dystrophic epidermolysis bullosa | |
| 650 | 4 | |a Epidermolysis bullosa | |
| 650 | 4 | |a Epidermolysis bullosa simplex | |
| 650 | 4 | |a Epidermólisis bullosa | |
| 650 | 4 | |a Epidermólisis bullosa distrófica | |
| 650 | 4 | |a Epidermólisis bullosa juntural | |
| 650 | 4 | |a Epidermólisis bullosa simple | |
| 650 | 4 | |a Junctional epidermolysis bullosa | |
| 650 | 4 | |a Kindler syndrome | |
| 650 | 4 | |a Síndrome de Kindler | |
| 700 | 1 | |a Quintana Castanedo, L |e verfasserin |4 aut | |
| 700 | 1 | |a Pérez Conde, I |e verfasserin |4 aut | |
| 700 | 1 | |a Jiménez González, M |e verfasserin |4 aut | |
| 700 | 1 | |a Escámez Toledano, M J |e verfasserin |4 aut | |
| 700 | 1 | |a de Lucas Laguna, R |e verfasserin |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Actas dermo-sifiliograficas |d 2011 |g (2021) vom: 10. Mai |w (DE-627)NLM205627536 |x 2173-5778 |7 nnns |
| 773 | 1 | 8 | |g year:2021 |g day:10 |g month:05 |
| 856 | 4 | 0 | |u http://dx.doi.org/10.1016/j.ad.2021.04.006 |3 Volltext |
| 912 | |a GBV_USEFLAG_A | ||
| 912 | |a GBV_NLM | ||
| 951 | |a AR | ||
| 952 | |j 2021 |b 10 |c 05 | ||