{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,20]],"date-time":"2026-03-20T03:23:41Z","timestamp":1773977021691,"version":"3.50.1"},"reference-count":13,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2025,1,15]],"date-time":"2025-01-15T00:00:00Z","timestamp":1736899200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2025,1,15]],"date-time":"2025-01-15T00:00:00Z","timestamp":1736899200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Med Case Reports"],"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:sec>\n            <jats:title>Background<\/jats:title>\n            <jats:p>Poikiloderma with neutropenia is a rare genetic disorder primarily characterized by the presence of poikiloderma and congenital chronic neutropenia. Mutations in the <jats:italic>C16orf57<\/jats:italic> gene, which encodes the USB1 protein, are implicated as the underlying cause of poikiloderma with neutropenia.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Case presentation<\/jats:title>\n            <jats:p>Our patient, an 11-year-old Syrian male child who presented with poikiloderma, palmoplantar keratoderma, pachyonychia, recurrent infections, and neutropenia, is considered to be the first documented case in Syria. Clinical examinations, laboratory tests, radiographic imaging, and genetic analyses have been conducted, with the latter being essential and definitive for diagnosis.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusion<\/jats:title>\n            <jats:p>This study aimed to evaluate whether poikiloderma with neutropenia should be considered for differential diagnosis because of its diagnostic complexity, emphasizing the importance of follow-up for the early identification of potential complications.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1186\/s13256-025-05027-2","type":"journal-article","created":{"date-parts":[[2025,1,15]],"date-time":"2025-01-15T03:17:53Z","timestamp":1736911073000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Poikiloderma with neutropenia: a case report"],"prefix":"10.1186","volume":"19","author":[{"ORCID":"https:\/\/orcid.org\/0009-0006-7712-2366","authenticated-orcid":false,"given":"Jebran","family":"Chekr","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-5665-6830","authenticated-orcid":false,"given":"Jan","family":"Andraws","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-0348-0745","authenticated-orcid":false,"given":"Jubran","family":"Elias","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9986-4110","authenticated-orcid":false,"given":"Diana","family":"Alasmar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2025,1,15]]},"reference":[{"issue":"9","key":"5027_CR1","doi-asserted-by":"publisher","DOI":"10.1002\/pbc.27262","volume":"65","author":"R Sakka","year":"2018","unstructured":"Sakka R, Mahjoub B, Kerkeni E, Werdani A, Boussoffara R, Ben Cheikh H, et al. Poikiloderma with neutropenia in a Tunisian patient with a novel C16orf57 gene mutation. Pediatr Blood Cancer. 2018;65(9): e27262.","journal-title":"Pediatr Blood Cancer"},{"issue":"2","key":"5027_CR2","doi-asserted-by":"publisher","first-page":"395","DOI":"10.1111\/bjh.19184","volume":"204","author":"L Larizza","year":"2024","unstructured":"Larizza L. From clinical findings to the pathomechanism of poikiloderma with neutropenia. Br J Haematol. 2024;204(2):395\u20136. https:\/\/doi.org\/10.1111\/bjh.19184.","journal-title":"Br J Haematol"},{"issue":"3","key":"5027_CR3","first-page":"331","volume":"14","author":"T Patiroglu","year":"2015","unstructured":"Patiroglu T, Akar HH. Clericuzio-type poikiloderma with neutropenia syndrome in a Turkish family: a three report of siblings with mutation in the C16orf57 gene. Iran J Allergy Asthma Immunol. 2015;14(3):331\u20137.","journal-title":"Iran J Allergy Asthma Immunol"},{"issue":"6","key":"5027_CR4","doi-asserted-by":"publisher","first-page":"e366","DOI":"10.1111\/pde.13645","volume":"35","author":"DP Hertel","year":"2018","unstructured":"Hertel DP, Mohammad TF, Shwayder TA. Poikiloderma with neutropenia and associated squamous cell carcinoma: a case report. Pediatr Dermatol. 2018;35(6):e366\u20137.","journal-title":"Pediatr Dermatol"},{"key":"5027_CR5","volume-title":"Poikiloderma with neutropenia","author":"L Wang","year":"1993","unstructured":"Wang L, Clericuzio C, Larizza L, Concolino D. Poikiloderma with neutropenia. Seattle: GeneReviews; 1993."},{"issue":"4","key":"5027_CR6","doi-asserted-by":"publisher","first-page":"357","DOI":"10.1007\/s10875-017-0385-7","volume":"37","author":"A Aglaguel","year":"2017","unstructured":"Aglaguel A, Abdelghaffar H, Ailal F, Habti N, Hesse S, Kohistani N, et al. Poikiloderma with neutropenia in Morocco: a report of four cases. J Clin Immunol. 2017;37(4):357\u201362.","journal-title":"J Clin Immunol"},{"key":"5027_CR7","doi-asserted-by":"publisher","first-page":"680363","DOI":"10.3389\/fmed.2021.680363","volume":"8","author":"V Piccolo","year":"2021","unstructured":"Piccolo V, Russo T, Di Pinto D, Pota E, Di Martino M, Piluso G, et al. Poikiloderma with neutropenia and mastocytosis: a case report and a review of dermatological signs. Front Med. 2021;8:680363.","journal-title":"Front Med"},{"issue":"4","key":"5027_CR8","doi-asserted-by":"publisher","first-page":"866","DOI":"10.1111\/j.1365-2133.2010.09929.x","volume":"163","author":"AW Arnold","year":"2010","unstructured":"Arnold AW, Itin PH, Pigors M, Kohlhase J, Bruckner-Tuderman L, Has C. Poikiloderma with neutropenia: a novel C16orf57 mutation and clinical diagnostic criteria. Br J Dermatol. 2010;163(4):866\u20139.","journal-title":"Br J Dermatol"},{"issue":"22","key":"5027_CR9","doi-asserted-by":"publisher","first-page":"4453","DOI":"10.1093\/hmg\/ddq371","volume":"19","author":"AJ Walne","year":"2010","unstructured":"Walne AJ, Vulliamy T, Beswick R, Kirwan M, Dokal I. Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund\u2013Thomson syndrome. Hum Mol Genet. 2010;19(22):4453\u201361.","journal-title":"Hum Mol Genet"},{"issue":"1","key":"5027_CR10","doi-asserted-by":"publisher","first-page":"8","DOI":"10.1016\/j.ejmg.2011.07.004","volume":"55","author":"J Piard","year":"2012","unstructured":"Piard J, Holder-Espinasse M, Aral B, Gigot N, Rio M, Tardieu M, et al. Systematic search for neutropenia should be part of the first screening in patients with poikiloderma. Eur J Med Genet. 2012;55(1):8\u201311.","journal-title":"Eur J Med Genet"},{"issue":"6","key":"5027_CR11","doi-asserted-by":"publisher","first-page":"452","DOI":"10.1046\/j.1365-2230.1999.00530.x","volume":"24","author":"Porter","year":"1999","unstructured":"Porter, Hardman, Abdalla, Powles. Haematological disease in siblings with Rothmund\u2013Thomson syndrome. Clin Exp Dermatol. 1999;24(6):452\u20134. https:\/\/doi.org\/10.1046\/j.1365-2230.1999.00530.x.","journal-title":"Clin Exp Dermatol"},{"key":"5027_CR12","doi-asserted-by":"publisher","first-page":"26","DOI":"10.1016\/j.jdcr.2023.08.045","volume":"48","author":"A Al Haddabi","year":"2024","unstructured":"Al Haddabi A, Mufti G, du Vivier A, Basu TN. Clericuzio-type poikiloderma with neutropenia and leg ulceration. JAAD Case Rep. 2024;48:26\u20139.","journal-title":"JAAD Case Rep."},{"issue":"4","key":"5027_CR13","doi-asserted-by":"publisher","first-page":"494","DOI":"10.1007\/s10875-018-0508-9","volume":"38","author":"EA Colombo","year":"2018","unstructured":"Colombo EA, Elcioglu NH, Graziano C, Farinelli P, Di Fede E, Neri I, et al. Insights into mutation effect in three poikiloderma with neutropenia patients by transcript analysis and disease evolution of reported patients with the same pathogenic variants. J Clin Immunol. 2018;38(4):494\u2013502. https:\/\/doi.org\/10.1007\/s10875-018-0508-9.","journal-title":"J Clin Immunol"}],"container-title":["Journal of Medical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13256-025-05027-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s13256-025-05027-2\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13256-025-05027-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,1,15]],"date-time":"2025-01-15T15:07:14Z","timestamp":1736953634000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmedicalcasereports.biomedcentral.com\/articles\/10.1186\/s13256-025-05027-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,1,15]]},"references-count":13,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2025,12]]}},"alternative-id":["5027"],"URL":"https:\/\/doi.org\/10.1186\/s13256-025-05027-2","relation":{},"ISSN":["1752-1947"],"issn-type":[{"value":"1752-1947","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,1,15]]},"assertion":[{"value":"30 May 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"20 December 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"15 January 2025","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"This is a case report; therefore, it did not require ethical approval from the ethics committee.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consent was obtained from the patient\u2019s legal guardian for publication of this case report and any accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"16"}}