{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,21]],"date-time":"2026-08-21T11:52:25Z","timestamp":1787313145044,"version":"build-2736575974"},"reference-count":15,"publisher":"Walter de Gruyter GmbH","issue":"1","license":[{"start":{"date-parts":[[2024,11,18]],"date-time":"2024-11-18T00:00:00Z","timestamp":1731888000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,3,28]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec id=\"j_almed-2024-0159_abs_001\">\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>Chanarin-Dorfman syndrome is a rare disease inherited in an autosomal recessive pattern whose prevalence does not exceed 130 cases worldwide.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_almed-2024-0159_abs_002\">\n                    <jats:title>Case presentation<\/jats:title>\n                    <jats:p>A 4-year-old patient with generalized erythematous-desquamative ichthyosiform syndrome since birth. The main laboratory finding was persistent hypertransaminasemia. Supplementary studies included peripheral blood smear (PBS), which revealed the presence of multiple cytoplasmatic vacuoles in polymorphonuclear leukocytes (PMN) and platelets. Ichthyosiform lesions concomitant to the presence of lipid vacuoles in peripheral blood PMNs are signs of Chanarin-Dorfman syndrome. Diagnostic suspicion was confirmed by genetic sequencing.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_almed-2024-0159_abs_003\">\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      Chanarin-Dorfman syndrome is characterized by a mutation in the\n                      <jats:italic>CGI-58<\/jats:italic>\n                      gene. This gene is involved in the catabolism of long-chain triglycerides stored in cytoplasmic lipid droplets. Jordans\u2019 anomaly is a congenital alteration characterized by the presence of multiple vacuoles in the granulocytic series due to defective lipid metabolism. In this syndrome, long-chain triglycerides build up in tissues, thereby causing dermatological manifestations that are controllable through diet.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1515\/almed-2024-0159","type":"journal-article","created":{"date-parts":[[2024,11,15]],"date-time":"2024-11-15T02:10:27Z","timestamp":1731636627000},"page":"118-121","source":"Crossref","is-referenced-by-count":1,"title":["Jordans\u2019 anomaly in Chanarin-Dorfman syndrome"],"prefix":"10.1515","volume":"6","author":[{"given":"Jorge","family":"S\u00e1nchez-Cort\u00e9s","sequence":"first","affiliation":[{"name":"Servicio de An\u00e1lisis Cl\u00ednicos , Hospital Universitari Sant Joan de Reus , Reus , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xavier","family":"Gabald\u00f3-Barrios","sequence":"additional","affiliation":[{"name":"Servicio de An\u00e1lisis Cl\u00ednicos , Hospital Universitari Sant Joan de Reus , Reus , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2024,11,18]]},"reference":[{"key":"2025032722230568873_j_almed-2024-0159_ref_001","doi-asserted-by":"crossref","unstructured":"Cakmak, E, Bagci, G. Chanarin-Dorfman syndrome: a comprehensive review. Liver Int 2021;41:905\u201314. https:\/\/doi.org\/10.1111\/liv.14794.","DOI":"10.1111\/liv.14794"},{"key":"2025032722230568873_j_almed-2024-0159_ref_002","doi-asserted-by":"crossref","unstructured":"Jordans, GHW. The familial occurrence of fat containing vacuoles in the leukocytes diagnosed in two brothers suffering from dystrophia musculorum progressiva (ERB). Acta Med Scand 1953;145:419\u201323. https:\/\/doi.org\/10.1111\/j.0954-6820.1953.tb07038.x.","DOI":"10.1111\/j.0954-6820.1953.tb07038.x"},{"key":"2025032722230568873_j_almed-2024-0159_ref_003","doi-asserted-by":"crossref","unstructured":"Dorfman, ML, Hershko, C, Eisenberg, S, Sagher, F. Ichthyosiform dermatosis with systemic lipidosis. Arch Dermatol 1974;110:261\u20136. https:\/\/doi.org\/10.1001\/archderm.1974.01630080059017.","DOI":"10.1001\/archderm.1974.01630080059017"},{"key":"2025032722230568873_j_almed-2024-0159_ref_004","doi-asserted-by":"crossref","unstructured":"Chanarin, I, Patel, A, Slavin, G, Wills, EJ, Andrews, TM, Stewart, G. Neutral-lipid storage disease: a new disorder of lipid metabolism. Br Med J 1975;1:553\u20135. https:\/\/doi.org\/10.1136\/bmj.1.5957.553.","DOI":"10.1136\/bmj.1.5957.553"},{"key":"2025032722230568873_j_almed-2024-0159_ref_005","doi-asserted-by":"crossref","unstructured":"Redaelli, C, Coleman, RA, Moro, L, Dacou-Voutetakis, C, Elsayed, SM, Prati, D, et al.. Clinical and genetic characterization of chanarin-dorfman syndrome patients: first report of large deletions in the ABHD5 gene. Orphanet J Rare Dis 2010;6:6. https:\/\/doi.org\/10.1186\/1750-1172-6-6.","DOI":"10.1186\/1750-1172-6-6"},{"key":"2025032722230568873_j_almed-2024-0159_ref_006","doi-asserted-by":"crossref","unstructured":"Singh, S, Sharma, S, Agarwal, S, Nangia, A, Chander, R, Varghese, B. Neutral lipid storage disease with unusual presentation: report of three cases. Pediatr Dermatol 2012;29:341\u20134. https:\/\/doi.org\/10.1111\/j.1525-1470.2011.01429.x.","DOI":"10.1111\/j.1525-1470.2011.01429.x"},{"key":"2025032722230568873_j_almed-2024-0159_ref_007","doi-asserted-by":"crossref","unstructured":"Musumeci, S, D\u2019Agata, A, Romano, C, Patan\u00e9, R, Cutrona, D, Neri, G, et al.. Ichthyosis and neutral lipid storage disease. Am J Med Genet 1988;29:377\u201382. https:\/\/doi.org\/10.1002\/ajmg.1320290219.","DOI":"10.1002\/ajmg.1320290219"},{"key":"2025032722230568873_j_almed-2024-0159_ref_008","doi-asserted-by":"crossref","unstructured":"Wolf, R, Zaritzky, A, Pollak, S. Value of looking at leukocytes in every case of ichthyosis. Dermatology 1988;177:237\u201340. https:\/\/doi.org\/10.1159\/000248570.","DOI":"10.1159\/000248570"},{"key":"2025032722230568873_j_almed-2024-0159_ref_009","doi-asserted-by":"crossref","unstructured":"Arora, S, Roy, S, Arora, D, Patil, C, Jain, AK. Chanarin-Dorfman syndrome with absent Jordan\u2019s anomaly. Indian J Dermatol 2017;62:549. https:\/\/doi.org\/10.4103\/ijd.ijd_613_16.","DOI":"10.4103\/ijd.IJD_613_16"},{"key":"2025032722230568873_j_almed-2024-0159_ref_010","doi-asserted-by":"crossref","unstructured":"Yu, L, Li, Y, Gris\u00e9, A, Wang, H. CGI-58: versatile regulator of intracellular lipid droplet homeostasis. Adv Exp Med Biol 2020;1276:197\u2013222. https:\/\/doi.org\/10.1007\/978-981-15-6082-8_13.","DOI":"10.1007\/978-981-15-6082-8_13"},{"key":"2025032722230568873_j_almed-2024-0159_ref_011","doi-asserted-by":"crossref","unstructured":"Fischer, J, Lef\u00e8vre, C, Morava, E, Mussini, J-M, Lafor\u00eat, P, Negre-Salvayre, A, et al.. The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy. Nat Genet 2007;39:28\u201330. https:\/\/doi.org\/10.1038\/ng1951.","DOI":"10.1038\/ng1951"},{"key":"2025032722230568873_j_almed-2024-0159_ref_012","doi-asserted-by":"crossref","unstructured":"Yamaguchi, T, Osumi, T. Chanarin-Dorfman syndrome: deficiency in CGI-58, a lipid droplet-bound coactivator of lipase. Biochim Biophys Acta Mol Cell Biol Lipids 2009;1791:519\u201323. https:\/\/doi.org\/10.1016\/j.bbalip.2008.10.012.","DOI":"10.1016\/j.bbalip.2008.10.012"},{"key":"2025032722230568873_j_almed-2024-0159_ref_013","doi-asserted-by":"crossref","unstructured":"Ohno, Y, Kamiyama, N, Nakamichi, S, Kihara, A. PNPLA1 is a transacylase essential for the generation of the skin barrier lipid \u03c9-O-acylceramide. Nat Commun 2017;8:1\u20138. https:\/\/doi.org\/10.1038\/ncomms14610.","DOI":"10.1038\/ncomms14610"},{"key":"2025032722230568873_j_almed-2024-0159_ref_014","unstructured":"Bonada Sanjaume, A, Az\u00f3n, A, Guill\u00e9n Rey, N, Figueredo, R, Salas-Salvad\u00f3, J. Dieta pobre en triglic\u00e9ridos de cadena larga: \u00fanico tratamiento eficaz en un ni\u00f1o con s\u00edndrome de Dorfman-Chanarin (enfermedad por dep\u00f3sito de l\u00edpidos neutros). Nutr Hosp 2004;19:57."},{"key":"2025032722230568873_j_almed-2024-0159_ref_015","doi-asserted-by":"crossref","unstructured":"Kakourou, T, Drogari, E, Christomanou, H, Giannoulia, A, Dacou-Voutetakis, C. Neutral lipid storage disease\u00a0\u2013 response to dietary intervention. Arch Dis Child 1997;77:184. https:\/\/doi.org\/10.1136\/adc.77.2.183c.","DOI":"10.1136\/adc.77.2.183c"}],"container-title":["Advances in Laboratory Medicine \/ Avances en Medicina de Laboratorio"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/almed-2024-0159\/xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/almed-2024-0159\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,3,28]],"date-time":"2025-03-28T04:40:06Z","timestamp":1743136806000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/almed-2024-0159\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,11,18]]},"references-count":15,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2024,12,2]]},"published-print":{"date-parts":[[2025,3,28]]}},"alternative-id":["10.1515\/almed-2024-0159"],"URL":"https:\/\/doi.org\/10.1515\/almed-2024-0159","relation":{},"ISSN":["2628-491X"],"issn-type":[{"value":"2628-491X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,11,18]]}}}