Hrev_master Question Given the patient’s history, what is the most likely diagnosis? 1. epidermolysis bullosa acquisita (EBA) 2. porphyria cutanea tarda (PCT) 3. cutaneous adverse drug reaction (CADR) 4. bullous systemic lupus erythematosus (BSLE) Emergency Care Journal 2023; volume 19:11294 [Emergency Care Journal 2023; 19:11294] [page 29] Sun, alcohol, and skin lesions Erika Poggiali, Andrea Vercelli Emergency Department, Guglielmo da Saliceto Hospital, Piacenza, Italy Correspondence: Erika Poggiali, Emergency Department, “Guglielmo da Saliceto” Hospital, Via Giuseppe Taverna 49, Piacenza, Italy. Tel.: +39.0523.303044. E-mail: E.Poggiali@ausl.pc.it Key words: skin lesions, porphyria cutanea tarda, hyperferritinemia. Contributions: EP, patient’s care, detailles collection, manuscript drafting; AV critical revision of the manuscript. All authors approved the final version and stated the integrity of the whole work. Conflict of interest: EP is member of the editorial board of Emergency Care Journal. AV declares no potential conflict of inter- est, and all author confirm accuracy. Availability of data and materials: all data underlying the findings are fully available upon reasonable request to Erika Poggiali, E.Poggiali@ausl.pc.it Ethics approval and consent to participate: as this was a descriptive case report and data was collected without patient identifiers, ethics approval was not required under our hospital’s Institutional Review Board guidelines. Informed consent: the patient provided consent for the access to medical records at the time of admission. Received for publication: 6 March 2023. Accepted for publication: 20 April 2023. This work is licensed under a Creative Commons Attribution 4.0 License (by-nc 4.0). ©Copyright: the Author(s), 2023 Licensee PAGEPress, Italy Emergency Care Journal 2023; 19:11294 doi:10.4081/ecj.2023.11294 Publisher's note: all claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher. A 65-year-old man presented to the emergency room with blistered not itching skin lesions on the dorsal surface of both hands, which developed recurrently after exposure to sun and solved sponta- neously with scarring. The patient had a history of hypertension, diabetes mellitus type 2 and hypercholesterolemia. His medica- tions included ramipril, metformin, simvastatin, and acetylsalicylic acid. He denied smoke, but he used to consume a large amount of alcohol (1 Lt of red wine daily). His body mass index was 29 (overweight). Blood exams revealed: altered glucose metabolism (fasting and post-prandial blood glucose, respectively 172 mg/dL and 267 mg/dL), macrocytosis (mean cell volume 100.6 fL), increased transaminases (AST 62 U/L and ALT 79 U/L, normal value 10-37) and gamma-glutamyl transferase (GGT 255 U/L, nor- mal value 7-40), and an iron assessment as follows: serum ferritin 2234 ng/mL, transferrin saturation 40%, serum iron 138 mcg/dL. Hepatitis C, hepatitis B, and HIV were excluded. Autoimmune screening was negative. Point of care ultrasound documented a grade 3 liver steatosis. Non -co mmerc ial us e o nly Answer Our patient was diagnosed as having PCT and hereditary haemochromatosis according to his medical history, typical skin lesions, and supportive laboratory findings. Total urine porphyrins were elevated (6481 mcg/24 hours, normal value <150), particular- ly uroporphyrin. Molecular diagnostics revealed compound het- erozygosity for the C282Y and H63D mutation within the hemochromatosis HFE gene. Phlebotomy was started as treatment regimen (450 cc/every 2 weeks) until iron depletion. The patient progressively reduced and stopped his alcohol intake. Sun expo- sure was restricted or allowed with total sunscreen. Full remission of skin lesions and liver damage was achieved after 6 months. PCT is the most common type of porphyria worldwide It is a metabolic disorder of the heme biosynthesis pathway caused by decreased activity of hepatic uroporphyrinogen decarboxylase (UROD). This results in an accumulation of photosensitive by- products, such as uroporphyrinogen, which leads to the fragility and blistering of sun-exposed skin and liver damage. Most of the cases (80%) are acquired and strictly related to iron overload with HFE gene mutations,1 alcohol abuse, viral infections (HCV, HIV), and use of cytochrome P-450 inhibitors or oestrogens. Familial PCT is rare (20%) and due to autosomal dominant UROD muta- tions.2 Acquired PCT is more common in males after the age of 30, and it involves both the skin and the liver. Skin manifestations included increased fragility, erosions, bullae, milia, scars and ker- atosis on sun-exposed areas, particularly face and hands.3 Liver damage might present in a wide range of ways from liver function test abnormalities to advanced fibrosis and hepatocellular carcino- ma.4 The toxic effect of iron plays a role in liver damage pathogen- esis. Screening for hereditary haemochromatosis and HCC using ultrasound examination are always recommended in PCT patients, especially with cirrhosis and advanced fibrosis.5 Phlebotomy is the first line treatment to be continued until ferritin concentration is less than 20 to 25 ng/mL. When phlebotomy is contraindicated, 100 mg hydroxychloroquine orally twice a week can be prescribed.2 Broad-spectrum sun protection, alcohol cessation, and hepatitis C treatment must be always recommended to prevent dis- ease progression and relapses. References 1. Elder GH, Worwood M. Mutations in the hemochromatosis gene, porphyria cutanea tarda, and iron overload. Hepatology (Baltimore, Md.) 1998;1:289-91. 2. Singal AK. Porphyria cutanea tarda: Recent update. Mol Genet Metabol 2019;3:271-81. 3. Bleasel NR, Varigos GA. Porphyria cutanea tarda. Australas J Dermatol 2000; 4:197-206. 4. Gisbert JP, Garcia-Buey L, Alonso A, et al. Hepatocellular car- cinoma risk in patients with porphyria cutanea tarda. Eur J Gastroenterol Hepatol 2004;7:689-92. 5. Mogl MT, Pascher A, Presser J, et al. An unhappy triad: hemochromatosis, porphyria cutanea tarda and hepatocellular carcinoma-a case report. World J Gastroenterol 2007;13:1998- 2001. Images in Emergency [page 30] [Emergency Care Journal 2023; 19:11294] Non -co mmerc ial us e o nly