{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T12:03:59Z","timestamp":1753877039853,"version":"3.41.2"},"reference-count":9,"publisher":"Oxford University Press (OUP)","issue":"7","license":[{"start":{"date-parts":[[2020,7,23]],"date-time":"2020-07-23T00:00:00Z","timestamp":1595462400000},"content-version":"vor","delay-in-days":22,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,7,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>Congenital erythropoietic porphyria (CEP or Gunther disease) is a very rare subtype of porphyria with a prevalence of &amp;lt;0.9 per 1\u2009000\u2009000. A 13-year-old female patient came to our hospital complaining of a severe cutaneous ulceration and scarring. The symptoms began in her first year of life as urine discoloration and skin blistering in sun-exposed areas. The family had been trapped in a high-risk conflict zone in Syria for many years, which precipitated the aggravation of symptoms. Based on clinical examination and laboratory tests, we diagnosed the patient with CEP and treated her with vitamin D supplementation alongside chronic blood transfusions, strict photoprotection and psychotherapy. After 7 months, there were no longer active ulcers or novel complications. Psychotherapy and patient education were important for her psychological development at this age. This treatment limited the deterioration of the symptoms and made the patient more committed to the periodic examinations.<\/jats:p>","DOI":"10.1093\/omcr\/omaa051","type":"journal-article","created":{"date-parts":[[2020,7,23]],"date-time":"2020-07-23T12:56:52Z","timestamp":1595509012000},"source":"Crossref","is-referenced-by-count":4,"title":["Congenital erythropoietic porphyria (Gunther disease): a case report"],"prefix":"10.1093","volume":"2020","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5057-7639","authenticated-orcid":false,"given":"Ali","family":"Kahila","sequence":"first","affiliation":[{"name":"Department of Dermatology and Venereology, Damascus University, Damascus, Syria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0118-8669","authenticated-orcid":false,"given":"Ali","family":"Zamlout","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Tishreen University, Latakia, Syria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2397-904X","authenticated-orcid":false,"given":"Abdaljawad","family":"Mazloum","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Tishreen University, Latakia, Syria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Omar","family":"Laila","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Venereology, Damascus University, Damascus, Syria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ayham","family":"Badran","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Venereology, Damascus University, Damascus, Syria"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2020,7,24]]},"reference":[{"key":"2020072308464651000_ref1","doi-asserted-by":"publisher","first-page":"365","DOI":"10.1053\/j.gastro.2019.04.050","article-title":"Clinical guide and update on Porphyrias","volume":"157","author":"Stolzel","year":"2019","journal-title":"Gastroenterology"},{"key":"2020072308464651000_ref2","doi-asserted-by":"publisher","first-page":"365","DOI":"10.1111\/bjh.13978","article-title":"Advances in understanding the pathogenesis of congenital erythropoietic porphyria","volume":"173","author":"Di Pierro","year":"2016","journal-title":"Br J Haematol"},{"key":"2020072308464651000_ref3","doi-asserted-by":"publisher","first-page":"779","DOI":"10.1046\/j.1365-2141.2002.03557.x","article-title":"Congenital erythropoietic porphyria: advances in pathogenesis and treatment","volume":"117","author":"Desnick","year":"2002","journal-title":"Br J Haematol"},{"key":"2020072308464651000_ref4","doi-asserted-by":"publisher","first-page":"412","DOI":"10.1016\/j.clinre.2015.05.009","article-title":"Porphyrias: a 2015 update","volume":"39","author":"Karim","year":"2015","journal-title":"Clin Res Hepatol Gastroenterol"},{"key":"2020072308464651000_ref5","doi-asserted-by":"publisher","first-page":"2618","DOI":"10.1182\/blood-2006-06-022848","article-title":"Congenital erythropoietic porphyria due to a mutation in GATA1: the first trans-acting mutation causative for a human porphyria","volume":"109","author":"Phillips","year":"2007","journal-title":"Blood"},{"key":"2020072308464651000_ref6","first-page":"218","article-title":"Bullous skin lesions in a jaundiced infant after phototherapy: a case of congenital erythropoietic porphyria","volume":"55","author":"Baran","year":"2013","journal-title":"Turk J Pediatr"},{"key":"2020072308464651000_ref7","doi-asserted-by":"publisher","first-page":"901","DOI":"10.1111\/j.1365-2133.2012.11160.x","article-title":"Congenital erythropoietic porphyria: a single-observer clinical study of 29 cases","volume":"167","author":"Katugampola","year":"2012","journal-title":"Br J Dermatol"},{"volume-title":"GeneReviews((R))","year":"1993","author":"Erwin","key":"2020072308464651000_ref8"},{"key":"2020072308464651000_ref9","doi-asserted-by":"crossref","first-page":"13030\/qt10n7k90g","DOI":"10.5070\/D3232033965","article-title":"Congenital erythropoietic porphyria (Gunther disease) - 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