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Porphyria Cutanea Tarda as the Initial Manifestation of Subclinical Hereditary Hemochromatosis.迟发性皮肤卟啉症作为亚临床遗传性血色素沉着症的初始表现
Clin Gastroenterol Hepatol. 2017 Sep;15(9):A37-A38. doi: 10.1016/j.cgh.2017.04.034. Epub 2017 May 4.
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Cutaneous porphyrias part I: epidemiology, pathogenesis, presentation, diagnosis, and histopathology.皮肤卟啉症 I 部分:流行病学、发病机制、临床表现、诊断和组织病理学。
Int J Dermatol. 2013 Dec;52(12):1464-80. doi: 10.1111/ijd.12305.
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[Hereditary hemochromatosis: presenting manifestations and diagnostic delay].
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Diagnosis and management of hemochromatosis: 2011 practice guideline by the American Association for the Study of Liver Diseases.血色素沉着症的诊断与管理:美国肝病研究协会2011年实践指南
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Porphyrias.卟啉症。
Lancet. 2010 Mar 13;375(9718):924-37. doi: 10.1016/S0140-6736(09)61925-5.
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Associations among behavior-related susceptibility factors in porphyria cutanea tarda.迟发性皮肤卟啉病相关易感性因素之间的关联。
Clin Gastroenterol Hepatol. 2010 Mar;8(3):297-302, 302.e1. doi: 10.1016/j.cgh.2009.11.017. Epub 2009 Nov 27.
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Primary hemochromatosis presented by porphyria cutanea tarda: a case report.迟发性皮肤卟啉症表现的原发性血色素沉着症:一例报告
Cases J. 2009 Jun 17;2:7246. doi: 10.4076/1757-1626-2-7246.
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Hemochromatosis genotypes and risk of 31 disease endpoints: meta-analyses including 66,000 cases and 226,000 controls.血色素沉着症基因型与31种疾病终点的风险:包含66000例病例和226000例对照的荟萃分析
Hepatology. 2007 Oct;46(4):1071-80. doi: 10.1002/hep.21885.
9
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.
10
The sensitivity and specificity of "caterpillar bodies" in the differential diagnosis of subepidermal blistering disorders.“毛虫体”在表皮下疱性疾病鉴别诊断中的敏感性和特异性。
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散发性迟发性皮肤卟啉症作为遗传性血色素沉着症的初始表现

Sporadic Porphyria Cutanea Tarda as the Initial Manifestation of Hereditary Hemochromatosis.

作者信息

Edwards Mitchell V, Ray Jennifer Michelle, Bacon Bruce R

机构信息

Saint Louis University School of Medicine, St Louis, MO.

Department of Gastroenterology and Hepatology, Saint Louis University Hospital, St Louis, MO.

出版信息

ACG Case Rep J. 2019 Nov 26;6(11):e00247. doi: 10.14309/crj.0000000000000247. eCollection 2019 Nov.

DOI:10.14309/crj.0000000000000247
PMID:32309465
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7145215/
Abstract

Porphyria cutanea tarda (PCT) is a skin disorder characterized by abnormal heme synthesis. We present a 45-year-old man with intermittent skin lesions recurring annually for years. Skin biopsy and measurement of serum heme precursors confirmed a diagnosis of PCT. He had persistently elevated alanine and aspartate transferase. He was referred to hematology and had genetic testing with iron studies which also revealed hereditary hemochromatosis (HH). Therapeutic phlebotomy was initiated, which led to resolution of iron overload and skin lesions. We highlight the associated conditions of PCT and HH, their common therapy of phlebotomy, and initial manifestations of HH.

摘要

迟发性皮肤卟啉病(PCT)是一种以血红素合成异常为特征的皮肤疾病。我们报告一名45岁男性,多年来每年间歇性出现皮肤病变。皮肤活检和血清血红素前体测量确诊为PCT。他的丙氨酸和天冬氨酸转氨酶持续升高。他被转诊至血液科,进行了基因检测和铁代谢研究,结果还显示患有遗传性血色素沉着症(HH)。开始进行治疗性放血,这使铁过载和皮肤病变得到缓解。我们强调了PCT和HH的相关情况、它们共同的放血疗法以及HH的初始表现。