Clinical features of genetic cutaneous porphyrias in Israel: A nationwide survey.
clinical
cutaneous porphyrias
genetic
survey
Journal
Photodermatology, photoimmunology & photomedicine
ISSN: 1600-0781
Titre abrégé: Photodermatol Photoimmunol Photomed
Pays: England
ID NLM: 9013641
Informations de publication
Date de publication:
May 2021
May 2021
Historique:
revised:
20
07
2020
received:
06
05
2020
accepted:
06
12
2020
pubmed:
12
12
2020
medline:
15
12
2021
entrez:
11
12
2020
Statut:
ppublish
Résumé
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.
Sections du résumé
BACKGROUND
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
OBJECTIVE
To describe the cutaneous features of GCP in Israel.
METHODS
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
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
CONCLUSIONS
This study sheds light on the cutaneous features of the GCP, which have a substantial effect on patients' quality of life.
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
236-242Informations de copyright
© 2020 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
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