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A rare case of porphyria cutanea tarda in a patient with a homozygous hereditary hemochromatosis gene H63D mutation in the setting of hereditary hemochromatosis.

作者信息

Banta Jonathan, Collins Joshua, Kobayashi Todd

机构信息

Department of Dermatology, Wilford Hall Ambulatory Surgical Center, Lackland AFB, San Antonio, Texas.

Department of Aerospace Medicine, 13th Fighter Squadron, Misawa AB, Misawa, Japan.

出版信息

JAAD Case Rep. 2024 May 27;50:30-32. doi: 10.1016/j.jdcr.2024.05.023. eCollection 2024 Aug.

DOI:10.1016/j.jdcr.2024.05.023
PMID:39036618
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11259983/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4c39/11259983/c267f1b28785/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4c39/11259983/137941af12be/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4c39/11259983/34043d2c1b34/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4c39/11259983/c267f1b28785/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4c39/11259983/137941af12be/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4c39/11259983/34043d2c1b34/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4c39/11259983/c267f1b28785/gr3.jpg

相似文献

1
A rare case of porphyria cutanea tarda in a patient with a homozygous hereditary hemochromatosis gene H63D mutation in the setting of hereditary hemochromatosis.一名患有纯合子遗传性血色素沉着症基因H63D突变的遗传性血色素沉着症患者发生迟发性皮肤卟啉症的罕见病例。
JAAD Case Rep. 2024 May 27;50:30-32. doi: 10.1016/j.jdcr.2024.05.023. eCollection 2024 Aug.
2
Association of porphyria cutanea tarda with hereditary hemochromatosis.迟发性皮肤卟啉症与遗传性血色素沉着症的关联。
J Am Acad Dermatol. 2004 Aug;51(2):205-11. doi: 10.1016/j.jaad.2003.08.015.
3
[Role of the hemochromatosis gene in prophyria cutanea tarda. Prospective study of 56 cases].[血色素沉着症基因在迟发性皮肤卟啉症中的作用。56例前瞻性研究]
Ann Dermatol Venereol. 2001 May;128(5):600-4.
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A Rare Case of Hereditary Hemochromatosis Presenting With Porphyria Cutanea Tarda.一例表现为迟发性皮肤卟啉症的遗传性血色素沉着症罕见病例。
Cureus. 2023 Jul 3;15(7):e41299. doi: 10.7759/cureus.41299. eCollection 2023 Jul.
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Precipitating factors of porphyria cutanea tarda in Brazil with emphasis on hemochromatosis gene (HFE) mutations. Study of 60 patients.巴西迟发性皮肤卟啉症的诱发因素，重点关注血色素沉着症基因（HFE）突变。对60例患者的研究。
An Bras Dermatol. 2013 Jul-Aug;88(4):530-40. doi: 10.1590/abd1806-4841.20132048.
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Co-inheritance of mutations in the uroporphyrinogen decarboxylase and hemochromatosis genes accelerates the onset of porphyria cutanea tarda.尿卟啉原脱羧酶和血色素沉着症基因突变的共同遗传会加速迟发性皮肤卟啉症的发病。
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Human leukocyte antigen haplotypes and HFE mutations in Spanish hereditary hemochromatosis and sporadic porphyria cutanea tarda.西班牙遗传性血色素沉着症和散发性迟发性皮肤卟啉症中的人类白细胞抗原单倍型及HFE突变
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The C282Y mutation in the haemochromatosis gene (HFE) and hepatitis C virus infection are independent cofactors for porphyria cutanea tarda in Australian patients.血色素沉着症基因（HFE）中的C282Y突变和丙型肝炎病毒感染是澳大利亚患者迟发性皮肤卟啉症的独立辅助因素。
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C282Y and H63D mutation of the hemochromatosis gene in German porphyria cutanea tarda patients.德国迟发性皮肤卟啉症患者血色素沉着症基因的C282Y和H63D突变
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Porphyria cutanea tarda: multiplicity of risk factors including HFE mutations, hepatitis C, and inherited uroporphyrinogen decarboxylase deficiency.迟发性皮肤卟啉症：包括HFE基因突变、丙型肝炎和遗传性尿卟啉原脱羧酶缺乏在内的多种风险因素。
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引用本文的文献

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Porphyria Cutanea Tarda: A Multifactorial Disease.迟发性皮肤卟啉病：一种多因素疾病。
Cureus. 2025 Jul 15;17(7):e87965. doi: 10.7759/cureus.87965. eCollection 2025 Jul.

本文引用的文献

1
A case of porphyria cutanea tarda in the setting of hepatitis C infection and tobacco usage.1例丙型肝炎感染和吸烟背景下的迟发性皮肤卟啉症。
Dermatol Online J. 2019 Dec 15;25(12):13030/qt11p0982m.
2
Increased mortality in patients with porphyria cutanea tarda-A nationwide cohort study.迟发性皮肤卟啉症患者死亡率升高——一项全国性队列研究。
J Am Acad Dermatol. 2020 Sep;83(3):817-823. doi: 10.1016/j.jaad.2019.07.082. Epub 2019 Jul 30.
3
Hepatic porphyria: A narrative review.肝性卟啉病：一篇叙述性综述。
Indian J Gastroenterol. 2016 Nov;35(6):405-418. doi: 10.1007/s12664-016-0698-0. Epub 2016 Oct 31.
4
Iron overload is rare in patients homozygous for the H63D mutation.铁过载在 H63D 突变纯合子患者中较为罕见。
Can J Gastroenterol Hepatol. 2014 Apr;28(4):198-202. doi: 10.1155/2014/468521.
5
Porphyria cutanea tarda--when skin meets liver.迟发性皮肤卟啉病——皮肤与肝脏的相遇。
Best Pract Res Clin Gastroenterol. 2010 Oct;24(5):735-45. doi: 10.1016/j.bpg.2010.07.002.
6
Significance of H63D homozygosity in a Basque population with hemochromatosis.在一个存在血色病的巴斯克人群中，H63D 纯合子的意义。
J Gastroenterol Hepatol. 2010 Jul;25(7):1295-8. doi: 10.1111/j.1440-1746.2010.06247.x.
7
Porphyria cutanea tarda, hepatitis C, uroporphyrinogen decarboxylase and mutations of HFE gene. A case-control study.迟发性皮肤卟啉症、丙型肝炎、尿卟啉原脱羧酶与HFE基因突变。一项病例对照研究。
Dermatology. 2009;218(1):15-21. doi: 10.1159/000173696. Epub 2008 Nov 12.
8
Hemochromatosis gene sequence deviations in German patients with porphyria cutanea tarda.德国迟发性皮肤卟啉病患者的血色素沉着症基因序列偏差
Physiol Res. 2006;55 Suppl 2:S75-83. doi: 10.33549/physiolres.930000.55.S2.75.
9
Porphyria cutanea tarda, hepatitis C, and HFE gene mutations in North America.北美迟发性皮肤卟啉症、丙型肝炎与HFE基因突变
Hepatology. 1998 Jun;27(6):1661-9. doi: 10.1002/hep.510270627.