Clinical features of genetic cutaneous porphyrias in Israel: A nationwide survey

Igor Snast, Ran Kaftory, Moshe Lapidoth, Rivka Mamet, Emmilia Hodak, Yonatan Edel, Assi Levi

Research output: Contribution to journalArticlepeer-review

Abstract

Background: 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. Purpose: To describe the cutaneous features of GCP in Israel. Methods: 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. Results: 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. Conclusion: This study sheds light on the cutaneous features of the GCP, which have a substantial effect on patients' quality of life.

Original languageEnglish
Pages (from-to)236-242
Number of pages7
JournalPhotodermatology Photoimmunology and Photomedicine
Volume37
Issue number3
DOIs
StatePublished - May 2021

Keywords

  • clinical
  • cutaneous porphyrias
  • genetic
  • survey

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