II registre italiano delle epidermolisi bollose ereditarie

Translated title of the contribution: The Italian registry of hereditary epidermolysis bullosa

G. Tadini, L. Gualandri, M. Colombi, M. Paradisi, C. Angelo, G. Zambruno, L. Castiglia, G. Annicchiarico, M. El Hasheem, S. Barlati, R. Gardella, L. Naldi, E. Bonifazi, L. Garofalo, G. Morettp, R. Cavalli, S. Cambiaghi, S. Percivalle, M. Bellinvia, A. Di Benedetto & 6 others A. Locatelli, L. Lunardon, E. Bruni, A. Patrizi, G. Lembo, T. Cainelli

Research output: Contribution to journalArticle

16 Citations (Scopus)

Abstract

Aim. At present, in Italy no exhaustive epidemiological study exists on inherited epidermolysis bullosa (EB). The necessity to have an exact evaluation of Italian cases encouraged the setting up of the national Registry, in order to collect all notifiable cases of this disease, with important implications in clinical knowledge, the development of prenatal diagnosis instruments and the start of epidemiological genetic studies. Methods. A hospital registry has been prepared: initially, it collected the cases already known to study centers in the period 1985-1993; then, it collected the new cases, until December 31, 2002. The registry envisaged the presence of a data coordinating center (Dermatology Clinic in Bergamo), 3 regional centers (CMCE in Milan, IDI in Rome and Bari Hospital) that collected patients from North, Center and South Italy respectively, and DEBRA Italy. Results. In total, 697 cases have been notified (9 not yet classified), with 28% epidermolytic EB, 10% junctional EB and 62% dermolytic EB. EB incidence at December 31, 2002 was 0.1 new cases per million live births; prevalence at December 31,2002 was 10.1 affected patients per million Italians. Conclusion. This epidemiological evaluation is representative of the Italian situation; from these data a geographic distribution of the disease in our country can be traced, with significant effects on prevention strategy.

Original languageItalian
Pages (from-to)359-372
Number of pages14
JournalGiornale Italiano di Dermatologia e Venereologia
Volume140
Issue number4
Publication statusPublished - 2005

Fingerprint

Epidermolysis Bullosa
Registries
Italy
Epidemiologic Studies
Junctional Epidermolysis Bullosa
Live Birth
Dermatology
Prenatal Diagnosis
Incidence

ASJC Scopus subject areas

  • Dermatology

Cite this

Tadini, G., Gualandri, L., Colombi, M., Paradisi, M., Angelo, C., Zambruno, G., ... Cainelli, T. (2005). II registre italiano delle epidermolisi bollose ereditarie. Giornale Italiano di Dermatologia e Venereologia, 140(4), 359-372.

II registre italiano delle epidermolisi bollose ereditarie. / Tadini, G.; Gualandri, L.; Colombi, M.; Paradisi, M.; Angelo, C.; Zambruno, G.; Castiglia, L.; Annicchiarico, G.; El Hasheem, M.; Barlati, S.; Gardella, R.; Naldi, L.; Bonifazi, E.; Garofalo, L.; Morettp, G.; Cavalli, R.; Cambiaghi, S.; Percivalle, S.; Bellinvia, M.; Di Benedetto, A.; Locatelli, A.; Lunardon, L.; Bruni, E.; Patrizi, A.; Lembo, G.; Cainelli, T.

In: Giornale Italiano di Dermatologia e Venereologia, Vol. 140, No. 4, 2005, p. 359-372.

Research output: Contribution to journalArticle

Tadini, G, Gualandri, L, Colombi, M, Paradisi, M, Angelo, C, Zambruno, G, Castiglia, L, Annicchiarico, G, El Hasheem, M, Barlati, S, Gardella, R, Naldi, L, Bonifazi, E, Garofalo, L, Morettp, G, Cavalli, R, Cambiaghi, S, Percivalle, S, Bellinvia, M, Di Benedetto, A, Locatelli, A, Lunardon, L, Bruni, E, Patrizi, A, Lembo, G & Cainelli, T 2005, 'II registre italiano delle epidermolisi bollose ereditarie', Giornale Italiano di Dermatologia e Venereologia, vol. 140, no. 4, pp. 359-372.
Tadini, G. ; Gualandri, L. ; Colombi, M. ; Paradisi, M. ; Angelo, C. ; Zambruno, G. ; Castiglia, L. ; Annicchiarico, G. ; El Hasheem, M. ; Barlati, S. ; Gardella, R. ; Naldi, L. ; Bonifazi, E. ; Garofalo, L. ; Morettp, G. ; Cavalli, R. ; Cambiaghi, S. ; Percivalle, S. ; Bellinvia, M. ; Di Benedetto, A. ; Locatelli, A. ; Lunardon, L. ; Bruni, E. ; Patrizi, A. ; Lembo, G. ; Cainelli, T. / II registre italiano delle epidermolisi bollose ereditarie. In: Giornale Italiano di Dermatologia e Venereologia. 2005 ; Vol. 140, No. 4. pp. 359-372.
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abstract = "Aim. At present, in Italy no exhaustive epidemiological study exists on inherited epidermolysis bullosa (EB). The necessity to have an exact evaluation of Italian cases encouraged the setting up of the national Registry, in order to collect all notifiable cases of this disease, with important implications in clinical knowledge, the development of prenatal diagnosis instruments and the start of epidemiological genetic studies. Methods. A hospital registry has been prepared: initially, it collected the cases already known to study centers in the period 1985-1993; then, it collected the new cases, until December 31, 2002. The registry envisaged the presence of a data coordinating center (Dermatology Clinic in Bergamo), 3 regional centers (CMCE in Milan, IDI in Rome and Bari Hospital) that collected patients from North, Center and South Italy respectively, and DEBRA Italy. Results. In total, 697 cases have been notified (9 not yet classified), with 28{\%} epidermolytic EB, 10{\%} junctional EB and 62{\%} dermolytic EB. EB incidence at December 31, 2002 was 0.1 new cases per million live births; prevalence at December 31,2002 was 10.1 affected patients per million Italians. Conclusion. This epidemiological evaluation is representative of the Italian situation; from these data a geographic distribution of the disease in our country can be traced, with significant effects on prevention strategy.",
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AU - Tadini, G.

AU - Gualandri, L.

AU - Colombi, M.

AU - Paradisi, M.

AU - Angelo, C.

AU - Zambruno, G.

AU - Castiglia, L.

AU - Annicchiarico, G.

AU - El Hasheem, M.

AU - Barlati, S.

AU - Gardella, R.

AU - Naldi, L.

AU - Bonifazi, E.

AU - Garofalo, L.

AU - Morettp, G.

AU - Cavalli, R.

AU - Cambiaghi, S.

AU - Percivalle, S.

AU - Bellinvia, M.

AU - Di Benedetto, A.

AU - Locatelli, A.

AU - Lunardon, L.

AU - Bruni, E.

AU - Patrizi, A.

AU - Lembo, G.

AU - Cainelli, T.

PY - 2005

Y1 - 2005

N2 - Aim. At present, in Italy no exhaustive epidemiological study exists on inherited epidermolysis bullosa (EB). The necessity to have an exact evaluation of Italian cases encouraged the setting up of the national Registry, in order to collect all notifiable cases of this disease, with important implications in clinical knowledge, the development of prenatal diagnosis instruments and the start of epidemiological genetic studies. Methods. A hospital registry has been prepared: initially, it collected the cases already known to study centers in the period 1985-1993; then, it collected the new cases, until December 31, 2002. The registry envisaged the presence of a data coordinating center (Dermatology Clinic in Bergamo), 3 regional centers (CMCE in Milan, IDI in Rome and Bari Hospital) that collected patients from North, Center and South Italy respectively, and DEBRA Italy. Results. In total, 697 cases have been notified (9 not yet classified), with 28% epidermolytic EB, 10% junctional EB and 62% dermolytic EB. EB incidence at December 31, 2002 was 0.1 new cases per million live births; prevalence at December 31,2002 was 10.1 affected patients per million Italians. Conclusion. This epidemiological evaluation is representative of the Italian situation; from these data a geographic distribution of the disease in our country can be traced, with significant effects on prevention strategy.

AB - Aim. At present, in Italy no exhaustive epidemiological study exists on inherited epidermolysis bullosa (EB). The necessity to have an exact evaluation of Italian cases encouraged the setting up of the national Registry, in order to collect all notifiable cases of this disease, with important implications in clinical knowledge, the development of prenatal diagnosis instruments and the start of epidemiological genetic studies. Methods. A hospital registry has been prepared: initially, it collected the cases already known to study centers in the period 1985-1993; then, it collected the new cases, until December 31, 2002. The registry envisaged the presence of a data coordinating center (Dermatology Clinic in Bergamo), 3 regional centers (CMCE in Milan, IDI in Rome and Bari Hospital) that collected patients from North, Center and South Italy respectively, and DEBRA Italy. Results. In total, 697 cases have been notified (9 not yet classified), with 28% epidermolytic EB, 10% junctional EB and 62% dermolytic EB. EB incidence at December 31, 2002 was 0.1 new cases per million live births; prevalence at December 31,2002 was 10.1 affected patients per million Italians. Conclusion. This epidemiological evaluation is representative of the Italian situation; from these data a geographic distribution of the disease in our country can be traced, with significant effects on prevention strategy.

KW - Hereditary epidermolysis bullosa

KW - Incidence

KW - Prevalence

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