Snast Igor, Kaftory Ran, Lapidoth Moshe, Mamet Rivka, Hodak Emmilia, Edel Yonatan, Levi Assi
Division of Dermatology, Photodermatosis Service, Rabin Medical Center, Petah Tikva, Israel.
Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Photodermatol Photoimmunol Photomed. 2021 May;37(3):236-242. doi: 10.1111/phpp.12641. Epub 2020 Dec 20.
There are three major types of genetic cutaneous porphyrias (GCP): erythropoietic protoporphyria (EPP), variegate porphyria (VP), and hereditary coproporphyria (HCP). Scarce data are available regarding their impact on patients' quality of life in the Mediterranean region.
To describe the cutaneous features of GCP in Israel.
An established nationwide cohort of patients with GCP diagnosed during 1988-2019 was surveyed by telephone for cutaneous features of GCP. Impact on quality of life was assessed using the Dermatology Life Quality Index.
Of the 95 patients with GCP, 71 (75%) completed the survey (21 HCP; 40 VP; 10 EPP). All EPP patients reported cutaneous symptoms compared with 58% of VP and 5% of HCP (P < .001). Mean age at symptom onset was 7 ± 6 years in EPP and 25 ± 15 years in VP (P < .001). Photosensitivity was the most common symptom in EPP (90%). In VP photosensitivity (52%), blistering (52%) and scarring (74%) were all common symptoms. In both VP and EPP, the dorsal hands/forearms were the most affected regions (≥96%), and in ≥ 78%, symptoms occurred on an almost daily basis. All EPP patients changed their lifestyle due to cutaneous symptoms vs 57% in VP. Major effect on quality of life was observed among EPP patients compared with a moderate effect in VP. No treatment was effective in EPP, while phototherapy and moisturizers were effective in 5 of 7 (71%) VP patients.
This study sheds light on the cutaneous features of the GCP, which have a substantial effect on patients' quality of life.
遗传性皮肤卟啉病（GCP）主要有三种类型：红细胞生成性原卟啉病（EPP）、杂合性卟啉病（VP）和遗传性粪卟啉病（HCP）。关于它们对地中海地区患者生活质量的影响，可用数据稀少。
描述以色列GCP的皮肤特征。
通过电话调查了1988年至2019年期间确诊的全国性GCP患者队列的GCP皮肤特征。使用皮肤病生活质量指数评估对生活质量的影响。
在95例GCP患者中，71例（75%）完成了调查（21例HCP；40例VP；10例EPP）。所有EPP患者均报告有皮肤症状，而VP患者为58%，HCP患者为5%（P<0.001）。EPP症状出现的平均年龄为7±6岁，VP为25±15岁（P<0.001）。光敏性是EPP最常见的症状（90%）。在VP中，光敏性（52%）、水疱形成（52%）和瘢痕形成（74%）都是常见症状。在VP和EPP中，双手背/前臂是受影响最严重的区域（≥96%），且≥78%的患者症状几乎每天都出现。所有EPP患者因皮肤症状改变了生活方式，而VP患者为57%。与VP患者的中度影响相比，EPP患者对生活质量有重大影响。EPP患者没有有效的治疗方法，而光疗和保湿剂对7例VP患者中的5例（71%）有效。
本研究揭示了GCP的皮肤特征，其对患者的生活质量有重大影响。
