Howard Matthew, Hall Anthony, Ramsay Donald
St Vincent's Hospital, Melbourne, Victoria, Australia. matthew.david.
Dermatol Online J. 2017 Feb 15;23(2):13030/qt10n7k90g.
Patients with the rare genodermatosis congenitalerythropoietic porphyria (CEP, Gunther disease)develop erosions and scarring on sun-exposedsites caused by phototoxin mediated damage.Compromised skin barrier function places patientsat higher risk of infection and long term sequelaeinclude scarring. We report a long term follow up ofa 60 year old patient born with CEP and provide anextensive literature review of CEP including recentupdates on potential management options. Multiplepatient interviews and collection of biochemistry datawere conducted for the case discussion. All Australianpathology laboratories in each state performingporphyria testing were surveyed in mid 2015 to verifyexistence of other cases of CEP in Australia with onlyone case of true congenital porphyria identifiedand one adult onset case. Congenital erythropoieticporphyria is a rare condition with no cure currentlyavailable. It is important to diagnose patients earlyto prevent and minimize complications such asscarring and secondary infection, provide longterm skin checks, and advise patients about lifestylemodification.
患有罕见遗传性皮肤病先天性红细胞生成性卟啉病（CEP，又称冈瑟病）的患者，由于光毒素介导的损伤，在阳光暴露部位会出现糜烂和瘢痕形成。受损的皮肤屏障功能使患者面临更高的感染风险，长期后遗症包括瘢痕形成。我们报告了一名患有CEP的60岁患者的长期随访情况，并对CEP进行了广泛的文献综述，包括潜在治疗方案的最新进展。为了病例讨论，进行了多次患者访谈并收集了生化数据。2015年年中，对澳大利亚每个州进行卟啉病检测的所有病理实验室进行了调查，以核实澳大利亚是否存在其他CEP病例，结果仅发现一例真正的先天性卟啉病病例和一例成人发病病例。先天性红细胞生成性卟啉病是一种罕见疾病，目前尚无治愈方法。早期诊断患者对于预防和减少诸如瘢痕形成和继发感染等并发症、提供长期皮肤检查以及建议患者改变生活方式非常重要。
