{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T19:46:02Z","timestamp":1792007162035,"version":"4.4.0"},"reference-count":16,"publisher":"Walter de Gruyter GmbH","issue":"1","license":[{"start":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T00:00:00Z","timestamp":1782864000000},"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":[[2026,7,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    H syndrome is a rare multisystem genodermatosis with an autosomal recessive inheritance, characterized by cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, hearing loss, heart anomalies, hypogonadism, short stature, hyperglycemia, hallux valgus and flexion contractures of fingers and toes. To date, 161 cases have been reported worldwide with limited data from North Africa. Herein, we report the case of a 17-year-old Moroccan girl diagnosed with H syndrome on the basis of clinical features and molecular testing. Clinical examination revealed dysmorphic features with insulin-dependent diabetes, sensorineural hearing loss, short stature, and progressive hyperpigmented indurated skin lesions with hypertrichosis predominantly affecting the thighs and genital region, associated with flexion contractures of the fingers and toes. Genetic testing identified a homozygous pathogenic splice-site variant c.300+1G&gt;C in the\n                    <jats:italic>SLC29A3<\/jats:italic>\n                    gene, previously reported to be associated with H syndrome. This is the first report of this mutation from northern Morocco, highlighting regional prevalence, phenotypic variability and the challenges faced in diagnosis due to high cost and limited access to molecular testing.\n                  <\/jats:p>","DOI":"10.2478\/bjmg-2026-0004","type":"journal-article","created":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T18:57:32Z","timestamp":1792004252000},"page":"81-86","source":"Crossref","is-referenced-by-count":0,"title":["First Case of H Syndrome in Northern Morocco: Clinical Features and Literature Overview"],"prefix":"10.2478","volume":"29","author":[{"ORCID":"https:\/\/orcid.org\/0009-0000-8216-4452","authenticated-orcid":false,"given":"H","family":"Jelti","sequence":"first","affiliation":[{"name":"Department of Medical Genetics and Oncogenetics , Mohammed VI University Hospital , Tangier , Morocco"},{"name":"Life and Health Sciences Laboratory , Faculty of Medicine and Pharmacy of Tangier, Abdelmalek Essa\u00e2di University , Morocco"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Lamaibdel","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Oncogenetics , Mohammed VI University Hospital , Tangier , Morocco"},{"name":"Life and Health Sciences Laboratory , Faculty of Medicine and Pharmacy of Tangier, Abdelmalek Essa\u00e2di University , Morocco"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Bouressas","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Oncogenetics , Mohammed VI University Hospital , Tangier , Morocco"},{"name":"Life and Health Sciences Laboratory , Faculty of Medicine and Pharmacy of Tangier, Abdelmalek Essa\u00e2di University , Morocco"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Benkacem","sequence":"additional","affiliation":[{"name":"Department of endocrinology , Mohammed VI University Hospital , Tangier , Morocco"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Regragui","sequence":"additional","affiliation":[{"name":"Department of Hematology , Mohammed VI University Hospital , Tangier , Morocco"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Lamzouri","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Oncogenetics , Mohammed VI University Hospital , Tangier , Morocco"},{"name":"Life and Health Sciences Laboratory , Faculty of Medicine and Pharmacy of Tangier, Abdelmalek Essa\u00e2di University , Morocco"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2026,10,14]]},"reference":[{"key":"2026101418572383203_j_bjmg-2026-0004_ref_001","doi-asserted-by":"crossref","unstructured":"Molho-Pessach V, Ramot Y, Camille F, Doviner V, Babay S, Luis SJ, et al. H syndrome: The first 79 patients. J Am Acad Dermatol 2014;70:80\u20138. https:\/\/doi.org\/10.1016\/j.jaad.2013.09.019.","DOI":"10.1016\/j.jaad.2013.09.019"},{"key":"2026101418572383203_j_bjmg-2026-0004_ref_002","doi-asserted-by":"crossref","unstructured":"Molho-Pessach V, Agha Z, Aamar S, Glaser B, Doviner V, Hiller N, et al. The H syndrome: A genodermatosis characterized by indurated, hyperpigmented, and hypertrichotic skin with systemic manifestations. J Am Acad Dermatol 2008;59:79\u201385. https:\/\/doi.org\/10.1016\/j.jaad.2008.03.021.","DOI":"10.1016\/j.jaad.2008.03.021"},{"key":"2026101418572383203_j_bjmg-2026-0004_ref_003","doi-asserted-by":"crossref","unstructured":"Baldwin SA, Yao SYM, Hyde RJ, Ng AML, Foppolo S, Barnes K, et al. Functional Characterization of Novel Human and Mouse Equilibrative Nucleoside Transporters (hENT3 and mENT3) Located in Intra-cellular Membranes. J Biol Chem 2005;280:15880\u20137. https:\/\/doi.org\/10.1074\/jbc.M414337200.","DOI":"10.1074\/jbc.M414337200"},{"key":"2026101418572383203_j_bjmg-2026-0004_ref_004","doi-asserted-by":"crossref","unstructured":"Melki I, Lambot K, Jonard L, Couloigner V, Quartier P, Neven B, et al. Mutation in the SLC29A3 Gene: A New Cause of a Monogenic, Autoinflammatory Condition. Pediatrics 2013;131:e1308\u201313. https:\/\/doi.org\/10.1542\/peds.2012-2255.","DOI":"10.1542\/peds.2012-2255"},{"key":"2026101418572383203_j_bjmg-2026-0004_ref_005","doi-asserted-by":"crossref","unstructured":"Doviner V, Maly A, Ne\u2019eman Z, Qawasmi R, Aamar S, Sultan M, et al. H Syndrome: Recently Defined Genodermatosis With Distinct Histologic Features. A Morphological, Histochemical, Immunohistochemical, and Ultrastructural Study of 10 Cases. Am J Dermatopathol 2010;32:118\u201328. https:\/\/doi.org\/10.1097\/DAD.0b013e3181b28572.","DOI":"10.1097\/DAD.0b013e3181b28572"},{"key":"2026101418572383203_j_bjmg-2026-0004_ref_006","doi-asserted-by":"crossref","unstructured":"Ungureanu IA, Cohen-Aubart F, H\u00e9ritier S, Fraitag S, Charlotte F, Lequain H, et al. OCT2 expression in histiocytoses. Virchows Arch 2023;483:81\u20136. https:\/\/doi.org\/10.1007\/s00428-023-03508-7.","DOI":"10.1007\/s00428-023-03508-7"},{"key":"2026101418572383203_j_bjmg-2026-0004_ref_007","doi-asserted-by":"crossref","unstructured":"Govindarajan R, Leung GPH, Zhou M, Tse C-M, Wang J, Unadkat JD. Facilitated mitochondrial import of antiviral and anticancer nucleoside drugs by human equilibrative nucleoside transporter-3. Am J Physiol-Gastrointest Liver Physiol 2009;296:G910\u201322. https:\/\/doi.org\/10.1152\/ajpgi.90672.2008.","DOI":"10.1152\/ajpgi.90672.2008"},{"key":"2026101418572383203_j_bjmg-2026-0004_ref_008","doi-asserted-by":"crossref","unstructured":"Kang N, Jun AH, Bhutia YD, Kannan N, Unadkat JD, Govindarajan R. Human Equilibrative Nucleoside Transporter-3 (hENT3) Spectrum Disorder Mutations Impair Nucleoside Transport, Protein Localization, and Stability. J Biol Chem 2010;285:28343\u201352. https:\/\/doi.org\/10.1074\/jbc.M110.109199.","DOI":"10.1074\/jbc.M110.109199"},{"key":"2026101418572383203_j_bjmg-2026-0004_ref_009","doi-asserted-by":"crossref","unstructured":"Rahman MF, Askwith C, Govindarajan R. Molecular determinants of acidic pH-dependent transport of human equilibrative nucleoside transporter 3. 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SLC29A3 mutation in a patient with syndromic diabetes with features of pigmented hypertrichotic dermatosis with insulin-dependent diabetes, H syndrome and Faisalabad histiocytosis. Diabetes Metab 2013;39:281\u20135. https:\/\/doi.org\/10.1016\/j.diabet.2013.03.007.","DOI":"10.1016\/j.diabet.2013.03.007"},{"key":"2026101418572383203_j_bjmg-2026-0004_ref_013","doi-asserted-by":"crossref","unstructured":"Elbarbary NS, Tjora E, Molnes J, Lie BA, Habib MA, Salem MA, et al. An Egyptian family with H syndrome due to a novel mutation in SLC29A3 illustrating overlapping features with pigmented hypertrichotic dermatosis with insulin-dependent diabetes and Faisalabad histiocytosis: H syndrome and SLC29A3. Pediatr Diabetes 2013;14:466\u201372. https:\/\/doi.org\/10.1111\/j.1399-5448.2012.00925.x.","DOI":"10.1111\/j.1399-5448.2012.00925.x"},{"key":"2026101418572383203_j_bjmg-2026-0004_ref_014","doi-asserted-by":"crossref","unstructured":"Bakhchane A, Kindil Z, Charoute H, Benchikhi K, Khadir K, Nadifi S, et al. Compound heterozygous SLC29A3 mutation causes H syndrome in a Moroccan patient: A case report. Curr Res Transl Med 2016;64:65\u20138. https:\/\/doi.org\/10.1016\/j.retram.2016.01.008.","DOI":"10.1016\/j.retram.2016.01.008"},{"key":"2026101418572383203_j_bjmg-2026-0004_ref_015","doi-asserted-by":"crossref","unstructured":"Huber-Ruano I, Errasti-Murugarren E, Godoy V, Vera \u00c1, Andreu AL, Garcia-Arumi E, et al. Functional outcome of a novel SLC29A3 mutation identified in a patient with H syndrome. 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