Porphyria cutanea tarda associated with elevated serum ferritin, iron overload, and a bone morphogenetic protein 6 genetic variant.
BMP6
Leu96Pro Author Affiliation
PCT
iron overload
porphyria cutanea tarda
Journal
Canadian liver journal
ISSN: 2561-4444
Titre abrégé: Can Liver J
Pays: Canada
ID NLM: 101778326
Informations de publication
Date de publication:
2020
2020
Historique:
received:
09
07
2019
accepted:
04
08
2019
entrez:
22
8
2022
pubmed:
4
6
2020
medline:
4
6
2020
Statut:
epublish
Résumé
A man aged 51 years was referred to dermatology for hand dermatitis. The dorsal hands and fingers had superficial erosions with pale pink shallow scars and milia suggestive of porphyria cutanea tarda (PCT). Urine and fecal studies were typical of PCT. The patient had daily alcohol use and was found to have elevated serum ferritin, aspartate aminotransferase, and alanine transaminase. Genetic testing for common hemochromatosis genetic variants (HFE C282Y and H63D) was normal. He underwent next-generation sequencing analysis using the 16-gene hyperferritinemia gene panel for genes known to be associated with hereditary hyperferritinemia, iron overload, or both and was discovered to have a genetic variant in bone morphogenetic 6 (BMP6, c.287T> C, p.Leu96Pro). The skin lesions improved with phlebotomy therapy.
Identifiants
pubmed: 35991856
doi: 10.3138/canlivj-2019-0018
pmc: PMC9202784
doi:
Types de publication
Case Reports
Langues
eng
Pagination
232-234Informations de copyright
Copyright © 2020 Canadian Association for the Study of the Liver.
Déclaration de conflit d'intérêts
None to declare.
Références
Nat Rev Dis Primers. 2018 Apr 05;4:18016
pubmed: 29620054
Am J Hematol. 2017 Jun;92(6):562-568
pubmed: 28335084
Gastroenterology. 2009 Oct;137(4):1489-97
pubmed: 19591830
Gastroenterology. 2016 Oct;151(4):769-70
pubmed: 27590690
Gastroenterology. 2016 Mar;150(3):672-683.e4
pubmed: 26582087
Hum Genomics. 2018 Apr 25;12(1):23
pubmed: 29695288
Eur J Haematol. 2017 Mar;98(3):228-234
pubmed: 27753142