{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,10]],"date-time":"2026-07-10T01:38:22Z","timestamp":1783647502050,"version":"3.55.0"},"reference-count":15,"publisher":"American Medical Association (AMA)","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JAMA Dermatol"],"published-print":{"date-parts":[[2023,2,1]]},"abstract":"<jats:sec id=\"ab-dbr220025-4\"><jats:title>Importance<\/jats:title><jats:p>Erythropoietic protoporphyria (EPP) is a rare and underdiagnosed genetic disease characterized by painful sensitivity to light. A better understanding and characterization of its light-induced cutaneous symptoms may aid in the identification of EPP in patients.<\/jats:p><\/jats:sec><jats:sec id=\"ab-dbr220025-5\"><jats:title>Objectives<\/jats:title><jats:p>To describe the cutaneous symptoms of erythropoietic protoporphyria (EPP) and to determine if these symptoms are associated with the degree of light sensitivity.<\/jats:p><\/jats:sec><jats:sec id=\"ab-dbr220025-6\"><jats:title>Design, Setting, and Participants<\/jats:title><jats:p>This was a cross-sectional study of adolescent and adult (\u226515 years) patients with EPP across the US conducted by a single academic hospital via a remotely administered survey, measurements of light sensitivity by light dosimetry and by text message symptom assessments. Data analyses were conducted from November 2020 to April 2022.<\/jats:p><\/jats:sec><jats:sec id=\"ab-dbr220025-7\"><jats:title>Exposures<\/jats:title><jats:p>Sunlight exposure.<\/jats:p><\/jats:sec><jats:sec id=\"ab-dbr220025-8\"><jats:title>Main Outcomes and Measures<\/jats:title><jats:p>Self-reported symptoms and association with measured light sensitivity.<\/jats:p><\/jats:sec><jats:sec id=\"ab-dbr220025-9\"><jats:title>Results<\/jats:title><jats:p>The study sample consisted of 35 patients with EPP (mean [SD] age, 39.1 (15.5) years; 21 [60%] female; 14 [40%] male; 35 [100%] White individuals). The patients\u2019 median [range] skin tone was 3.0 (1.0-8.0), based on self-reporting from 1 (lightest) to 12 (darkest). A total of 24 participants completed the light dosimeter measurements. Phototoxic reactions were characterized by pain (97%; 34 patients), burning (97%; 34), tingling (97%; 34), pruritus (83%; 29), allodynia (89%; 31), improvement of symptoms with cold (89%; 31), achiness (24%; 12), fatigue (46%; 16), mild swelling (83%; 29), severe swelling (63%; 22), erythema (51%; 18), petechiae (40%; 14), skin cracking (43%; 15), scabbing (46%; 16), scarring (66%; 23), and other chronic skin changes (40%; 14). Patients with EPP reported that their hands, feet, and face were most sensitive to light and that their shoulders and legs were least sensitive; 25.7% (9 patient) reported no chronic skin changes, and 5.7% (2 patients) reported never having had any visible symptoms. None of these findings varied with the degree of light sensitivity except that lower overall light sensitivity was associated with lower ranked sensitivity of the neck and arms.<\/jats:p><\/jats:sec><jats:sec id=\"ab-dbr220025-10\"><jats:title>Conclusions and Relevance<\/jats:title><jats:p>The findings of this cross-sectional study suggest that patients with EPP have distinctive cutaneous symptoms that may aid in identification of this underdiagnosed disease. Characteristic EPP symptoms include light-induced cutaneous burning pain and occasional swelling, particularly over the hands, with a prodrome of pruritus and paresthesias. Minimal skin changes or the absence of visible skin changes during reactions to light, including lack of erythema, do not exclude an EPP diagnosis nor suggest low EPP disease burden.<\/jats:p><\/jats:sec>","DOI":"10.1001\/jamadermatol.2022.5850","type":"journal-article","created":{"date-parts":[[2023,1,11]],"date-time":"2023-01-11T16:04:05Z","timestamp":1673453045000},"page":"204","source":"Crossref","is-referenced-by-count":13,"title":["Light-Related Cutaneous Symptoms of Erythropoietic Protoporphyria and Associations With Light Sensitivity Measurements"],"prefix":"10.1001","volume":"159","author":[{"given":"Haya S.","family":"Raef","sequence":"first","affiliation":[{"name":"Department of Medicine, Massachusetts General Hospital, Boston"},{"name":"Department of Dermatology, Massachusetts General Hospital, Boston"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lina","family":"Rebeiz","sequence":"additional","affiliation":[{"name":"Department of Medicine, Massachusetts General Hospital, Boston"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rebecca Karp","family":"Leaf","sequence":"additional","affiliation":[{"name":"Department of Medicine, Massachusetts General Hospital, Boston"},{"name":"Harvard Medical School, Boston, Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olivia","family":"Hughes","sequence":"additional","affiliation":[{"name":"Department of Biostatistics, Harvard School of Public Health, Boston, Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul","family":"Jiang","sequence":"additional","affiliation":[{"name":"Department of Medicine, Massachusetts General Hospital, Boston"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abrahim","family":"ElSeht","sequence":"additional","affiliation":[{"name":"Department of Medicine, Massachusetts General Hospital, Boston"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karl E.","family":"Anderson","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Division of Gastroenterology and Hepatology, University of Texas Medical Branch, Galveston"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristen","family":"Wheeden","sequence":"additional","affiliation":[{"name":"United Porphyrias Association, Bethesda, Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irene","family":"Kochevar","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Massachusetts General Hospital, Boston"},{"name":"Harvard Medical School, Boston, Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarina B.","family":"Elmariah","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Massachusetts General Hospital, Boston"},{"name":"Harvard Medical School, Boston, Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amy K.","family":"Dickey","sequence":"additional","affiliation":[{"name":"Department of Medicine, Massachusetts General Hospital, Boston"},{"name":"Harvard Medical School, Boston, Massachusetts"},{"name":"Healthcare Transformation Lab, Massachusetts General Hospital, Boston"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"10","reference":[{"issue":"8","key":"dbr220025r1","doi-asserted-by":"publisher","first-page":"789","DOI":"10.1001\/jamadermatol.2017.1557","article-title":"Clinical, biochemical, and genetic characterization of north American patients with erythropoietic protoporphyria and x-linked protoporphyria.","volume":"153","author":"Balwani","year":"2017","journal-title":"JAMA Dermatol"},{"issue":"1","key":"dbr220025r2","doi-asserted-by":"publisher","first-page":"140","DOI":"10.1038\/s41436-020-00951-8","article-title":"Evidence in the UK Biobank for the underdiagnosis of erythropoietic 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