{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,13]],"date-time":"2026-06-13T06:29:51Z","timestamp":1781332191321,"version":"3.54.1"},"reference-count":11,"publisher":"BMJ","issue":"3","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2025,2,20]]},"published-print":{"date-parts":[[2025,3]]},"abstract":"<jats:p>Congenital erythropoietic porphyria (CEP) also known as Gunther\u2019s disease is a subtype of porphyria. It is an autosomal recessive disorder caused by a mutation in the uroporphyrinogen III gene (URO III) coding for the enzyme UROS synthase, an essential enzyme in the heme synthesis pathway. The condition may present as non-immune hydrops in foetuses, dark-red urine-stained diapers in neonates and skin blistering and mutilation in sun-exposed areas in older children. Enzyme assays and genetic studies are costly and not easily available in low-resource settings; therefore, awareness of the typical phenotype of this rare porphyria is crucial. However, due to the scarcity of reported cases, clinicians remain oblivious to the disease, leading to delays in diagnosis and initiation of treatment, thus contributing to long-term disabilities. We report a case of a male child in early adolescence presenting with classical cutaneous, skeletal and haematological features of CEP.<\/jats:p>","DOI":"10.1136\/bcr-2025-264795","type":"journal-article","created":{"date-parts":[[2025,3,3]],"date-time":"2025-03-03T16:40:36Z","timestamp":1741020036000},"page":"e264795","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["Congenital erythropoietic porphyria: the overlooked inherited disorder"],"prefix":"10.1136","volume":"18","author":[{"given":"Bimlesh","family":"Prasad","sequence":"first","affiliation":[{"name":"Pediatrics, All India Institute of Medical Sciences, Raebareli, Uttar Pradesh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8133-013X","authenticated-orcid":false,"given":"Namita","family":"Mishra","sequence":"additional","affiliation":[{"name":"Pediatrics, All India Institute of Medical Sciences, 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porphyria: Recent advances","volume":"128","author":"Erwin","year":"2019","journal-title":"Mol Genet Metab"},{"key":"2025082709361746000_18.3.e264795.10","article-title":"Congenital Erythropoietic Porphyria: A Rare Inherited Disorder","volume":"16","author":"Saikrishna","year":"2024","journal-title":"Cureus"},{"key":"2025082709361746000_18.3.e264795.11","doi-asserted-by":"crossref","DOI":"10.1111\/liv.16012","article-title":"Practical recommendations for biochemical and genetic diagnosis of the porphyrias","volume":"45","author":"Aarsand","year":"2025","journal-title":"Liver Int"}],"container-title":["BMJ Case 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