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01.12.2014 | Letter to the Editor | Ausgabe 1/2014 Open Access

Orphanet Journal of Rare Diseases 1/2014

Incontinentia pigmenti: report on data from 2000 to 2013

Zeitschrift:
Orphanet Journal of Rare Diseases > Ausgabe 1/2014
Autoren:
Francesca Fusco, Mariateresa Paciolla, Matilde Immacolata Conte, Alessandra Pescatore, Elio Esposito, Peppino Mirabelli, Maria Brigida Lioi, Matilde Valeria Ursini
Wichtige Hinweise

Electronic supplementary material

The online version of this article (doi:10.​1186/​1750-1172-9-93) contains supplementary material, which is available to authorized users.

Competing interests

The authors declare that they have no competing interests.

Authors’ contributions

FF: drafted the main part and created the final version of the manuscript, and designed the clinical and scientific content of the database, MP: implemented the content of the database, MIC: contributed to the content of the database, AP: contributed to the content of the database, EE: contributed to the content of the database, PM: contributed to the content of the database, MBL: participated in the design of the database- architecture and the data security concept of the registry, MVU: contributed to the content design of the database, and reviewed and revised the manuscript. All authors read and approved the final manuscript.

Abstract

We report here on the building-up of a database of information related to 386 cases of Incontinentia Pigmenti collected in a thirteen-year activity (2000–2013) at our centre of expertise. The database has been constructed on the basis of a continuous collection of patients (27.6/year), the majority diagnosed as sporadic cases (75.6%). This activity has generated a rich source of information for future research studies by integrating molecular/clinical data with scientific knowledge. We describe the content, architecture and future utility of this collection of data on IP to offer comprehensive anonymous information to the international scientific community.
Zusatzmaterial
Authors’ original file for figure 1
13023_2014_775_MOESM1_ESM.tif
Literatur
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