{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T16:53:51Z","timestamp":1790182431002,"version":"4.1.0"},"reference-count":8,"publisher":"MDPI AG","issue":"9","license":[{"start":{"date-parts":[[2023,8,31]],"date-time":"2023-08-31T00:00:00Z","timestamp":1693440000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Children"],"abstract":"<jats:p>An infant with a prenatal diagnosis of citrullinemia, who started standard treatment at birth (L-arginine; sodium benzoate and a personalized diet characterized by a low protein intake and supplementation of essential nutrients and amino acids), presented at 4 months of age with extended, progressive, and severe skin lesions consistent with acrodermatitis dysmetabolica. Guidelines for the diagnosis and management of urea cycle disorders underline that a low-protein diet places patients at risk of essential fatty acids, trace elements, and vitamin deficiency. At hospital admission, our patient had normal levels of zinc and alkaline phosphatases. The plasmatic amino acid profile revealed a severe and generalized deficiency. In particular, the serum levels of arginine, valine, and isoleucine were very low and the dermatitis did not improve until the blood levels of these amino acids increased. In our patient, skin lesions happened despite an early diagnosis of citrullinemia and timely treatment due to compliance issues as a consequence of linguistic barriers.<\/jats:p>","DOI":"10.3390\/children10091491","type":"journal-article","created":{"date-parts":[[2023,8,31]],"date-time":"2023-08-31T11:31:18Z","timestamp":1693481478000},"page":"1491","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["A Case of Acrodermatitis Dysmetabolica in a Child Affected by Citrullinemia Type I: When Early Diagnosis and Timely Treatment Are Not Enough"],"prefix":"10.3390","volume":"10","author":[{"given":"Laura","family":"Bruni","sequence":"first","affiliation":[{"name":"Specialty School of Pediatrics-Alma Mater Studiorum, University of Bologna, 40126 Bologna, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3048-4531","authenticated-orcid":false,"given":"Alessandra","family":"Cassio","sequence":"additional","affiliation":[{"name":"Department of Medical & Surgical Sciences, University of Bologna, 40138 Bologna, Italy"},{"name":"Pediatric Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valeria","family":"Di Natale","sequence":"additional","affiliation":[{"name":"Pediatric Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3470-6880","authenticated-orcid":false,"given":"Federico","family":"Baronio","sequence":"additional","affiliation":[{"name":"Pediatric Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8218-1463","authenticated-orcid":false,"given":"Rita","family":"Ortolano","sequence":"additional","affiliation":[{"name":"Pediatric Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0379-9562","authenticated-orcid":false,"given":"Andrea","family":"Pession","sequence":"additional","affiliation":[{"name":"Pediatric Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6537-9689","authenticated-orcid":false,"given":"Bianca Maria","family":"Piraccini","sequence":"additional","affiliation":[{"name":"Unit of Dermatology, IRCCS di Policlinico S. Orsola, 40126 Bologna, Italy"},{"name":"Division of Dermatology, Department of Experimental, Diagnostic and Specialty Medicine, University of Bologna, 40138 Bologna, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8552-0771","authenticated-orcid":false,"given":"Iria","family":"Neri","sequence":"additional","affiliation":[{"name":"Unit of Dermatology, IRCCS di Policlinico S. Orsola, 40126 Bologna, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,8,31]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1192","DOI":"10.1002\/jimd.12100","article-title":"Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision","volume":"42","author":"Burlina","year":"2019","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"218","DOI":"10.1016\/S0022-3476(77)80633-1","article-title":"Neonatal citrullinemia: Treatment with ketoanalogues of essential amino acids","volume":"90","author":"Thoene","year":"1977","journal-title":"J. Pediatr."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1016\/S0190-9622(86)70035-2","article-title":"Neonatal citrullinemia associated with cutaneous manifestations and arginine deficiency","volume":"14","author":"Goldblum","year":"1986","journal-title":"J. Am. Acad. Dermatol."},{"key":"ref_4","unstructured":"Block, R.J., and Weiss, K.W. (1956). Amino Acids Handbook: Methods and Results of Protein Analysis, Charles C Thomas Publisher."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"1541a","DOI":"10.1001\/archderm.1987.01660350148032","article-title":"Control of growth and differentiation in vitro of human keratinocytes cultured in serum-free medium","volume":"123","author":"Shipley","year":"1987","journal-title":"Arch Dermatol."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"150","DOI":"10.1111\/j.1525-1470.2008.00803.x","article-title":"Acrodermatitis Enteropathica-Like Eruption in Metabolic Disorders: Acrodermatitis Dysmetabolica Is Proposed as a Better Term","volume":"26","author":"Duru","year":"2009","journal-title":"Pediatr. Dermatol."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"375","DOI":"10.1016\/S0151-9638(06)70919-X","article-title":"Acrodermatitis enteropathica-like syndrome secondary to branched-chain amino acid deficiency during treatment of maple syrup urine disease","volume":"133","author":"Templier","year":"2006","journal-title":"Ann. Dermatol. Venereol."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"416","DOI":"10.1016\/S0022-3476(94)70364-7","article-title":"Acrodermatitis enteropathica-like cutaneous lesions in organic aciduria","volume":"124","author":"Ramet","year":"1994","journal-title":"J. Pediatr."}],"container-title":["Children"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2227-9067\/10\/9\/1491\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T20:43:49Z","timestamp":1760129029000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2227-9067\/10\/9\/1491"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,8,31]]},"references-count":8,"journal-issue":{"issue":"9","published-online":{"date-parts":[[2023,9]]}},"alternative-id":["children10091491"],"URL":"https:\/\/doi.org\/10.3390\/children10091491","relation":{},"ISSN":["2227-9067"],"issn-type":[{"value":"2227-9067","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,8,31]]}}}