Erythropoietic protoporphyria: case reports for clinical and therapeutic hints.
Children porphyria
Cimetidine
Ferrochelatase gene
Photosensitivity
Porphyria
Journal
Italian journal of pediatrics
ISSN: 1824-7288
Titre abrégé: Ital J Pediatr
Pays: England
ID NLM: 101510759
Informations de publication
Date de publication:
23 Nov 2023
23 Nov 2023
Historique:
received:
18
07
2023
accepted:
03
10
2023
medline:
27
11
2023
pubmed:
24
11
2023
entrez:
24
11
2023
Statut:
epublish
Résumé
Erythropoietic protoporphyria is a rare disorder which represents an important health problem in children, causing painful photosensitivity. Little is known on the correlation between genetic profile and clinical manifestations. The standard of care for Erythropoietic protoporphyria is based on avoiding sun and using sun protections, but recent literature has suggested that cimetidine may have a role in improving sun sensitivity. Herein we report our case series describing the successful use of cimetidine and analyzing potential phenotype-genotype correlations. This case series describes five patients presented to our Rheumatology Service complaining sun sensitivity. Blood exams and genetic analysis were consistent with the diagnosis of erythropoietic protoporphyria. Four of 5 patients received cimetidine in addition to standard therapies and the effect of treatment was evaluated by Erythropoietic Protoporphyria - Quality of Life questionnaire. Erythropoietic protoporphyria usually manifests in early childhood after a short sun exposure. Skin manifestations are the main reason for investigations, although sometimes they can be more subtle, leading to a significant diagnostic delay. Skin diseases in children can have profound effects on their family and social relationships. A treatment with cimetidine appears to be an excellent therapeutic option in children with Erythropoietic protoporphyria.
Sections du résumé
BACKGROUND
BACKGROUND
Erythropoietic protoporphyria is a rare disorder which represents an important health problem in children, causing painful photosensitivity. Little is known on the correlation between genetic profile and clinical manifestations. The standard of care for Erythropoietic protoporphyria is based on avoiding sun and using sun protections, but recent literature has suggested that cimetidine may have a role in improving sun sensitivity. Herein we report our case series describing the successful use of cimetidine and analyzing potential phenotype-genotype correlations.
CASE PRESENTATION
METHODS
This case series describes five patients presented to our Rheumatology Service complaining sun sensitivity. Blood exams and genetic analysis were consistent with the diagnosis of erythropoietic protoporphyria. Four of 5 patients received cimetidine in addition to standard therapies and the effect of treatment was evaluated by Erythropoietic Protoporphyria - Quality of Life questionnaire.
CONCLUSIONS
CONCLUSIONS
Erythropoietic protoporphyria usually manifests in early childhood after a short sun exposure. Skin manifestations are the main reason for investigations, although sometimes they can be more subtle, leading to a significant diagnostic delay. Skin diseases in children can have profound effects on their family and social relationships. A treatment with cimetidine appears to be an excellent therapeutic option in children with Erythropoietic protoporphyria.
Identifiants
pubmed: 37996925
doi: 10.1186/s13052-023-01544-2
pii: 10.1186/s13052-023-01544-2
pmc: PMC10668413
doi:
Substances chimiques
Ferrochelatase
EC 4.99.1.1
Cimetidine
80061L1WGD
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
156Subventions
Organisme : Ministero della Salute
ID : Ministero della Salute
Informations de copyright
© 2023. The Author(s).
Références
Br J Dermatol. 2006 Sep;155(3):574-81
pubmed: 16911284
Eur J Dermatol. 2020 Oct 1;30(5):532-540
pubmed: 33021473
Cureus. 2022 Mar 17;14(3):e23253
pubmed: 35449677
N Engl J Med. 2015 Jul 2;373(1):48-59
pubmed: 26132941
Gut. 2007 Jul;56(7):1009-18
pubmed: 17360790
Dermatol Ther. 2003;16(1):57-64
pubmed: 12919128
Cell Mol Biol (Noisy-le-grand). 2002 Feb;48(1):91-6
pubmed: 11929053
JAMA Dermatol. 2016 Nov 1;152(11):1258-1261
pubmed: 27410690
Photodiagnosis Photodyn Ther. 2022 Jun;38:102793
pubmed: 35245673
SAGE Open Med Case Rep. 2018 May 23;6:2050313X18772125
pubmed: 29854403
JAMA Dermatol. 2017 Aug 1;153(8):789-796
pubmed: 28614581
Nat Genet. 2002 Jan;30(1):27-8
pubmed: 11753383