Open AccessClinical and molecular epidemiology of erythropoietic protoporphyria in Italy
Author(s) -
Paolo Ventura,
Valentina Brancaleoni,
Elena Di Pierro,
Giovanna Graziadei,
Annelise Macrì,
Claudio Carmine Guida,
Annamaria Nicolli,
Mariateresa Rossi,
Francesca Granata,
Valeria Fiorentino,
Silvia Fustii,
Raffaella Sala,
Piergiacomo Calzavara Pinton,
Andrea Trevisan,
Stefano Marchini,
Chiara Cuoghi,
M Marcacci,
Elena Corradini,
Fiammetta Sorge,
Caterina Aurizi,
Maria Savino,
Maria Domenica Cappellini,
Antonello Pietrangelo
Publication year - 2020
Publication title -
european journal of dermatology/ejd. european journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.48
H-Index - 71
eISSN - 1952-4013
pISSN - 1167-1122
DOI - 10.1684/ejd.2020.3880
Subject(s) - erythropoietic protoporphyria , medicine , porphyria , incidence (geometry) , epidemiology , gastroenterology , frameshift mutation , retrospective cohort study , pediatrics , mutation , genetics , protoporphyrin , gene , biology , biochemistry , porphyrin , physics , optics
Erythropoietic protoporphyria (EPP) is a rare inherited disease associated with heme metabolism, characterized by severe life-long photosensitivity and liver involvement.