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

• Main Authors: Sara Rovaris (Author), Giuseppe La Rosa (Author), Sara Mezzana (Author), Francesco Tonon (Author), Luigi Mori (Author), Eugenio Monti (Author), Giuseppe Mazzeo (Author), Piergiacomo Calzavara-Pinton (Author), Mariachiara Arisi (Author)
• Format: Book
• Published: PAGEPress Publications, 2023-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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 reveale...