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

Sara Rovaris; Giuseppe La Rosa; Sara Mezzana; Francesco Tonon; Luigi Mori; Eugenio Monti; Giuseppe Mazzeo; Piergiacomo Calzavara-Pinton; Mariachiara Arisi

doi:10.4081/dr.2023.9784

Authors

Sara Rovaris
s.rovaris@unibs.it
Department of Dermatology, University of Brescia, Spedali Civili Hospital, Brescia, Italy. https://orcid.org/0000-0001-5454-4220
Giuseppe La Rosa Department of Dermatology, University of Brescia, Spedali Civili Hospital, Brescia, Italy.
Sara Mezzana Department of Dermatology, University of Brescia, Spedali Civili Hospital, Brescia, Italy. https://orcid.org/0009-0007-0419-6193
Francesco Tonon Department of Dermatology, University of Brescia, Spedali Civili Hospital, Brescia, Italy. https://orcid.org/0000-0002-9493-4896
Luigi Mori Department of Molecular and Translational Medicine, University of Brescia, Italy.
Eugenio Monti Department of Molecular and Translational Medicine, University of Brescia, Italy. https://orcid.org/0000-0002-4742-7445
Giuseppe Mazzeo Department of Molecular and Translational Medicine, University of Brescia, Italy.
Piergiacomo Calzavara-Pinton Department of Dermatology, University of Brescia, Spedali Civili Hospital, Brescia, Italy.
Mariachiara Arisi Department of Dermatology, University of Brescia, Spedali Civili Hospital, Brescia, Italy. https://orcid.org/0000-0001-6307-6174

In this case study, we describe a 21-year-old man with erythropoietic protoporphyria who sought medical attention in April 2022 for diffuse edema and erythema of the hands. These symptoms had been present since childhood and usually occurred soon after sun exposure. The patient’s medical history showed that chromosome 18’s long arm had partially deleted. We performed a number of tests, including measuring total erythrocyte protoporphyrin levels and utilizing a spectrofluorometer to assess the fluorometric emission peak of plasma porphyrins, based on the patient’s medical history and clinical symptoms. Furthermore, a genetic analysis identified an intronic variant on one allele, c.315-48T>C (IVS3- 48T>C), which is categorized as a susceptibility polymorphism, and a complete deletion of the ferrochelatase gene on the other allele. The patient’s clinical condition improved following the June 2022 afamelanotide implant procedure.

Balwani M. Erythropoietic protoporphyria and X-linked protoporphyria: pathophysiology, genetics, clinical manifestations, and management. Mol Genet Metab 2019;128:298-303.

Snast I, Kaftory R, Sherman S, et al. Acquired erythropoietic protoporphyria: a systematic review of the literature. Photodermatol Photoimmunol Photomed 2020;36:29-33.

Ventura P, Brancaleoni V, Di Pierro E, et al. Clinical and molecular epidemiology of erythropoietic protoporphyria in Italy. Eur J Dermatol 2020;30:532-40.

Lecha M, Puy H, Deybach JC. Erythropoietic protoporphyria. Orphanet J Rare Dis 2009;4:19.

Magness ST, Tugores A, Christensen SR, et al. Deletion of the ferrochelatase gene in a patient with protoporphyria. Hum Mol Genet 1994;3:1695-7.

Kim ES, Garnock-Jones KP. Afamelanotide: a review in erythropoietic protoporphyria. Am J Clin Dermatol 2016;17:179-85.

Wensink D, Wagenmakers MAEM, Langendonk JG. Afamelanotide for prevention of phototoxicity in erythropoietic protoporphyria. Expert Rev Clin Pharmacol 2021;14:151-60.

Rovaris, S., La Rosa, G., Mezzana, S., Tonon, F., Mori, L., Monti, E., Mazzeo, G., Calzavara-Pinton, P., & Arisi, M. (2023). When the diagnosis is written in the DNA: a case of erythropoietic protoporphyria in a patient with a chromosome-18 deletion. Dermatology Reports, 16(2). https://doi.org/10.4081/dr.2023.9784