{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,19]],"date-time":"2026-10-19T23:42:38Z","timestamp":1792453358716,"version":"4.5.0"},"reference-count":16,"publisher":"Wiley","license":[{"start":{"date-parts":[[2026,10,19]],"date-time":"2026-10-19T00:00:00Z","timestamp":1792368000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2026,10,19]],"date-time":"2026-10-19T00:00:00Z","timestamp":1792368000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Dermatology"],"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    H syndrome is a rare autosomal recessive genodermatosis caused by loss\u2010of\u2010function\n                    <jats:italic>SLC29A3<\/jats:italic>\n                    variants, combining hyperpigmented indurated plaques and hypertrichosis with life\u2010threatening autoinflammation. We report a 5\u2010year\u2010old South African girl of first\u2010cousin parents who presented with hyperinflammation mimicking macrophage activation syndrome, progressing to purpura fulminans with digital gangrene and autoamputation of fingertips and toes, myocarditis, flexion contractures, flat feet, and enlarged cheeks. Next\u2010generation sequencing identified a homozygous\n                    <jats:italic>SLC29A3<\/jats:italic>\n                    variant, c.7G&gt;A (p.Val3Ile), of uncertain significance, though the phenotype fulfills published criteria. Recognizing H syndrome's cutaneous, musculoskeletal, and vascular hallmarks can shorten a potentially fatal delay in diagnosis.\n                  <\/jats:p>","DOI":"10.1111\/pde.70393","type":"journal-article","created":{"date-parts":[[2026,10,19]],"date-time":"2026-10-19T23:16:17Z","timestamp":1792451777000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Clinicogenetic Characterization of H Syndrome in a South African Child"],"prefix":"10.1111","author":[{"ORCID":"https:\/\/orcid.org\/0009-0000-5322-9827","authenticated-orcid":false,"given":"Tshimogo Tswelopele","family":"Sathekge","sequence":"first","affiliation":[{"name":"Department of Paediatrics George Regional Hospital  George South Africa"},{"name":"Faculty of Health Sciences University of Pretoria  Pretoria South Africa"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claude","family":"Bailly","sequence":"additional","affiliation":[{"name":"Faculty of Health Sciences Department of Human Genetics University of Cape Town  Cape Town South Africa"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,10,19]]},"reference":[{"issue":"4","key":"e_1_2_9_2_1","doi-asserted-by":"crossref","first-page":"529","DOI":"10.1016\/j.ajhg.2008.09.013","article-title":"The H Syndrome Is Caused by Mutations in the Nucleoside Transporter hENT3","volume":"83","author":"Molho\u2010Pessach V.","year":"2008","journal-title":"American Journal of Human Genetics"},{"issue":"1","key":"e_1_2_9_3_1","first-page":"1","article-title":"Genodermatoses With Autoinflammatory Features: A Practical Approach","volume":"89","author":"Nofal A.","year":"2023","journal-title":"Journal of the American Academy of Dermatology"},{"issue":"3","key":"e_1_2_9_4_1","first-page":"467","article-title":"Systemic Autoinflammation With Cutaneous Features: A Review of Genodermatoses With Immunodysregulation","volume":"47","author":"Ramot Y.","year":"2022","journal-title":"Clinical and Experimental Dermatology"},{"issue":"1","key":"e_1_2_9_5_1","doi-asserted-by":"crossref","first-page":"80","DOI":"10.1016\/j.jaad.2013.09.019","article-title":"H Syndrome: The First 79 Patients","volume":"70","author":"Molho\u2010Pessach V.","year":"2014","journal-title":"Journal of the American Academy of Dermatology"},{"issue":"1","key":"e_1_2_9_6_1","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1186\/s12969-017-0204-y","article-title":"H Syndrome: 5 New Cases From the United States With Novel Features and Responses to Therapy","volume":"15","author":"Bloom J. L.","year":"2017","journal-title":"Pediatric Rheumatology Online Journal"},{"issue":"7","key":"e_1_2_9_7_1","first-page":"1345","article-title":"H Syndrome Presenting as a Mimic of Familial Mediterranean Fever: A Diagnostic Challenge","volume":"54","author":"Hussain K.","year":"2015","journal-title":"Rheumatology"},{"issue":"5","key":"e_1_2_9_8_1","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and Guidelines for the Interpretation of Sequence Variants","volume":"17","author":"Richards S.","year":"2015","journal-title":"Genetics in Medicine"},{"key":"e_1_2_9_9_1","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1016\/j.jdrv.2025.04.007","article-title":"H\u2010Syndrome: Proposed Diagnostic Criteria for a Clinical Challenge","volume":"5","author":"Nofal H.","year":"2025","journal-title":"JAAD Reviews"},{"issue":"5","key":"e_1_2_9_10_1","doi-asserted-by":"crossref","first-page":"884","DOI":"10.1002\/humu.22048","article-title":"Next\u2010Generation Sequencing Demands Next\u2010Generation Phenotyping","volume":"33","author":"Hennekam R. C.","year":"2012","journal-title":"Human Mutation"},{"key":"e_1_2_9_11_1","doi-asserted-by":"crossref","first-page":"1061182","DOI":"10.3389\/fimmu.2023.1061182","article-title":"H Syndrome Treated With Tocilizumab: Two Case Reports and Literature Review","volume":"14","author":"Jacquot R.","year":"2023","journal-title":"Frontiers in Immunology"},{"issue":"1","key":"e_1_2_9_12_1","first-page":"146","article-title":"SLC29A3 Spectrum Disorders: An Update on Mammalian Nucleoside Transport, Lymphohistiocytosis and Histiocytosis","volume":"13","author":"Molho\u2010Pessach V.","year":"2018","journal-title":"Orphanet Journal of Rare Diseases"},{"issue":"1","key":"e_1_2_9_13_1","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1186\/s12969-021-00586-2","article-title":"A Patient With H Syndrome, Cardiogenic Shock, Multiorgan Infiltration, and Leukemia","volume":"19","author":"Ventura\u2010Espejo V.","year":"2021","journal-title":"Pediatric Rheumatology Online Journal"},{"key":"e_1_2_9_14_1","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1136\/jmg-2024-110606","article-title":"Clinicogenetic Characterisation of SLC29A3\u2010Related Syndromes: A Case Series, Tracing Ancestral Variants and Molecular Dynamics Simulation","volume":"62","author":"Biglari S.","year":"2025","journal-title":"Journal of Medical Genetics"},{"issue":"7497","key":"e_1_2_9_15_1","doi-asserted-by":"crossref","first-page":"469","DOI":"10.1038\/nature13127","article-title":"Guidelines for Investigating Causality of Sequence Variants in Human Disease","volume":"508","author":"MacArthur D. G.","year":"2014","journal-title":"Nature"},{"issue":"5","key":"e_1_2_9_16_1","doi-asserted-by":"crossref","first-page":"e20163148","DOI":"10.1542\/peds.2016-3148","article-title":"Tocilizumab for the Treatment of SLC29A3 Mutation Positive PHID Syndrome","volume":"140","author":"Rafiq N. K.","year":"2017","journal-title":"Pediatrics"},{"key":"e_1_2_9_17_1","doi-asserted-by":"crossref","first-page":"e65","DOI":"10.4158\/EP15762.CR","article-title":"The H Syndrome: Molecular Diagnosis Using Next\u2010Generation Sequencing","volume":"2","author":"Doddabelavangala Mruthyunjaya M.","year":"2016","journal-title":"AACE Clinical Case Reports"}],"container-title":["Pediatric Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.70393","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/pde.70393","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.70393","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,10,19]],"date-time":"2026-10-19T23:16:20Z","timestamp":1792451780000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pde.70393"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,10,19]]},"references-count":16,"alternative-id":["10.1111\/pde.70393"],"URL":"https:\/\/doi.org\/10.1111\/pde.70393","archive":["Portico"],"relation":{},"ISSN":["0736-8046","1525-1470"],"issn-type":[{"value":"0736-8046","type":"print"},{"value":"1525-1470","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,10,19]]},"assertion":[{"value":"2026-04-28","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-10-12","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-10-19","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"pde.70393"}}