Erythropoietic Protoporphyria in a Japanese Population

Mizawa, Megumi; Makino, Teruhiko; Nakano, Hajime; Sawamura, Daisuke; Shimizu, Tadamichi

doi:10.2340/00015555-3184

Cited by 10 publications

(3 citation statements)

References 38 publications

(73 reference statements)

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“…5,6 EPP is panethnic, and its prevalence in various populations may depend in part on the frequency of the ferrochelatase low expression allele (c.315-48T>C) which ranges from ~2% in Africans, ~9% in Caucasians including Finlanders, and estimated 32-43% in the East Asian/Japanese population. 5,[7][8][9][10][11] Previously, large UK and US cohort studies of EPP patients described the first photosensitivity symptoms as tingling, itching, stinging, pins and needles, or heat/burning sensations on exposed skin that occurred in <10 minutes to an hour in most patients, 7 while the severe, incapacitating, and untreatable burning pain occurred with continued sun exposure, typically in 30 minutes to several hours, and lasted 2-7 days. 7,12 The severe burning pain on prolonged light-exposed areas (e.g., hands and face) is followed by edema and erythema.…”

Section: Introductionmentioning

confidence: 99%

Erythropoietic protoporphyria: time to prodrome, the warning signal to exit sun exposure without pain—a patient-reported outcome efficacy measure

Wensink

Langendonk

Overbey

et al. 2021

Genetics in Medicine

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Section: Introductionmentioning

confidence: 99%

Erythropoietic protoporphyria: time to prodrome, the warning signal to exit sun exposure without pain—a patient-reported outcome efficacy measure

Wensink

Langendonk

Overbey

et al. 2021

Genetics in Medicine

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“…There have been reports of erythropoietic around the world; however, its epidemiology varies by locale. After age 10, it was discovered that 20% of the Japanese patients had erythropoietic protoporphyria symptoms [34].…”

Section: Erythropoietic Protoporphyriamentioning

confidence: 99%

Skin Grafting, Cryopreservation, and Diseases: A Review Article

Adnan¹,

Jha²,

Verma³

et al. 2022

Cureus

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Food supplements may be consumed through diet and have been shown to modify skin functions, making them helpful in the management of skin aging. However, there are not many clinical trials that back up these assertions. The stratum corneum, which acts as the organism's contact with its environment, is the principal function of the epidermis of land vertebrates. Antioxidants are chemicals that slow down or prevent other molecules from oxidizing. In people's diets, their use has considerably expanded in recent years. Due to their benefits for health, nutrition, and therapy, natural antioxidants are increasingly being used in place of synthetic antioxidant components. A popular component thought to be an antioxidant is hydrolyzed collagen. With aging comes a steady loss of physiological integrity, capacity to handle stress from the inside out, and function. This is a byproduct of several intricate biological processes that are affected by diseases both local and systemic as well as constitutive and environmental variables. Systemic and constitutive (genetic) variables influence skin aging and its phenotypic manifestation. The biological process of skin aging is complicated and impacted by both external and endogenous causes. The primary contributor to skin cancer is sun exposure. Ultraviolet radiation from the sun can kill skin cells by directly absorbing DNA damage. The skin's hydration is a crucial factor that affects its mechanical and physical characteristics. This study looks at how the stratum corneum's molecular and macroscopic characteristics interact and change with skin wetness. Although there is little information written about them and even less is understood about them, moisturizers are a crucial component of a dermatologist's toolkit. There is a plethora of anticipated skin products on the market, but their true scientific function is yet unknown. These items play a well-known part in many skin problems, while occasionally being dismissed as simple cosmetics.

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“…The prevalence of EPP ranges between 1:75,000 and 1:180,000 in Europe [2,14]. It is more frequent in Japan due to an increased prevalence of the milder variant with a loss of function mutation in the FECH-gene, c.315-48 T > C (present in 43% of Japanese people compared to approximately 10% in the Netherlands) [15]. This variant will only lead to EPP if the patient also has a severe pathogenic mutation in the FECHgene.…”

Section: Erythropoietic Protoporphyriamentioning

confidence: 99%

Afamelanotide for prevention of phototoxicity in erythropoietic protoporphyria

Wensink

Wagenmakers

Langendonk

2021

Expert Review of Clinical Pharmacology

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Introduction: In erythropoietic protoporphyria (EPP), an inherited disorder of heme biosynthesis, accumulation of protoporphyrin IX results in acute phototoxicity. EPP patients experience severe burning pain after light exposure, which results in a markedly reduced quality of life. Afamelanotide is the first effective approved medical treatment for EPP, acting on melanocortin-1 receptors. This article aims to review afamelanotide. Areas covered: This review summarizes the chemical properties, pharmacokinetics, safety, preclinical and clinical data on afamelanotide in EPP, and post-marketing surveillance. PubMed search, manufacturers' websites, and relevant articles used for approval by authorities were used for the literature search. Expert opinion: Afamelanotide is an α-melanocyte-stimulating hormone analog. It can activate eumelanogenesis without exposure to UV radiation. Clinical studies in EPP showed that afamelanotide treatment significantly increased exposure to sunlight and QoL. In our clinical experience afamelanotide treatment is much more effective in clinical practice than demonstrated in clinical trials and should be made available for all EPP patients meeting inclusion criteria. The 60-day interval period was not based on effectiveness studies, and therefore for some of the patients the maximum of four implants per year with the 60-day interval is insufficient. Afamelanotide is well tolerated; common adverse events were headache, fatigue, and nausea.

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Erythropoietic Protoporphyria in a Japanese Population

Cited by 10 publications

References 38 publications

Erythropoietic protoporphyria: time to prodrome, the warning signal to exit sun exposure without pain—a patient-reported outcome efficacy measure

Erythropoietic protoporphyria: time to prodrome, the warning signal to exit sun exposure without pain—a patient-reported outcome efficacy measure

Skin Grafting, Cryopreservation, and Diseases: A Review Article

Afamelanotide for prevention of phototoxicity in erythropoietic protoporphyria

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