When the diagnosis is written in the DNA: a case of erythropoietic protoporphyria in a patient with a chromosome 18 deletion

When the diagnosis is written in the DNA: a case of erythropoietic protoporphyria in a patient with a chromosome 18 deletion

We present a case of erythropoietic protoporphyria (EPP) in a 21-year-old man who sought medical attention in April 2022 due to diffuse edema and erythema of the hands, which he had been experiencing since childhood and occurring shortly after sun exposure. The patient's medical history reveal...

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Bibliographic Details
Main Authors: Sara Rovaris, Giuseppe La Rosa, Sara Mezzana, Francesco Tonon, Luigi Mori, Eugenio Monti, Giuseppe Mazzeo, Piergiacomo Calzavara-Pinton, Mariachiara Arisi
Format: Article
Language:English
Published: PAGEPress Publications 2023-09-01
Series:Dermatology Reports
Subjects:
Erythropoietic protoporphyria
chromosome 18
afamelanotide
Online Access:https://www.pagepress.org/journals/index.php/dr/article/view/9784

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