{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T14:08:33Z","timestamp":1780582113844,"version":"3.54.1"},"reference-count":14,"publisher":"SMC Media","issue":"6","license":[{"start":{"date-parts":[[2026,5,6]],"date-time":"2026-05-06T00:00:00Z","timestamp":1778025600000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"abstract":"<jats:p>Introduction:\u00a0Histiocytosis-lymphadenopathy plus syndrome is a rare autosomal recessive multisystemic disorder caused by mutations in the\u00a0SLC29A3\u00a0gene, which encodes the nucleoside transporter hENT3. This mutation has been linked to a group of syndromic histiocytoses including H-syndrome, pigmented hypertrichosis with insulin-dependent diabetes, Faisalabad histiocytosis and familial Rosai-Dorfman disease. Case description:\u00a0We report the case of an 18-year-old woman from an Arab country with no parental consanguinity who presented to our department with uncontrolled diabetes, repeated severe hypoglycaemic episodes, short stature and delayed puberty. Her history included exocrine pancreatic insufficiency, marked skin hyperpigmentation with thickening of the lower limbs, skeletal deformities, chronic anaemia, impacted teeth and a constellation of findings strongly evocative of H-syndrome. In addition, she presented with multiple deep lymphadenopathies. Discussion:\u00a0This case reflects the variable expression of H-syndrome. We report, for the first time, dental inclusion as a possible additional feature of this syndrome. The patient presented with a severe systemic form involving multiple organs, including pancreatic insufficiency, diabetes with persistent glycaemic instability despite multiple daily insulin injections and close monitoring, delayed puberty requiring initiation of transdermal oestradiol therapy, and dermatological manifestations poorly responsive to topical treatments. These findings underscore both the heterogeneity of clinical presentation and the challenges in managing H-syndrome. Conclusion:\u00a0With fewer than 100 cases described worldwide, histiocytosis-lymphadenopathy plus syndrome remains vastly underdiagnosed. This case highlights the importance of recognising its characteristic clinical features and aims to raise awareness among clinicians, encouraging them to consider uncommon diagnoses when faced with unusual combinations of dermatological, endocrine and skeletal signs.<\/jats:p>","DOI":"10.12890\/2026_006206","type":"journal-article","created":{"date-parts":[[2026,5,14]],"date-time":"2026-05-14T09:02:23Z","timestamp":1778749343000},"source":"Crossref","is-referenced-by-count":0,"title":["An unusual syndromic presentation in diabetes: histiocytosis-lymphadenopathy plus syndrome"],"prefix":"10.12890","volume":"13","author":[{"given":"Hanae","family":"Rachedi","sequence":"first","affiliation":[{"name":"Endocrinology, diabetology and nutrition department, Mohammed VI University Hospital Center, Faculty of Medicine and Pharmacy, University of Mohammed First, Oujda, Morocco"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Khawla","family":"Rhouzali","sequence":"first","affiliation":[{"name":"Endocrinology, diabetology and nutrition department, Mohammed VI University Hospital Center, Faculty of Medicine and Pharmacy, University of Mohammed First, Oujda, Morocco"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yousra","family":"Laalaoua","sequence":"first","affiliation":[{"name":"Endocrinology, diabetology and nutrition department, Mohammed VI University Hospital Center, Faculty of Medicine and Pharmacy, University of Mohammed First, Oujda, Morocco"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nisrine","family":"Bouichrat","sequence":"first","affiliation":[{"name":"Endocrinology, diabetology and nutrition department, Mohammed VI University Hospital Center, Faculty of Medicine and Pharmacy, University of Mohammed First, Oujda, Morocco; Laboratory of Epidemiology, Clinical Research and Public Health, Faculty of Medicine and Pharmacy, University of Mohammed First, Oujda, Morocco"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Siham","family":"Rouf","sequence":"first","affiliation":[{"name":"Endocrinology, diabetology and nutrition department, Mohammed VI University Hospital Center, Faculty of Medicine and Pharmacy, University of Mohammed First, Oujda, Morocco; Laboratory of Epidemiology, Clinical Research and Public Health, Faculty of Medicine and Pharmacy, University of Mohammed First, Oujda, Morocco"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanane","family":"Latrech","sequence":"first","affiliation":[{"name":"Endocrinology, diabetology and nutrition department, Mohammed VI University Hospital Center, Faculty of Medicine and Pharmacy, University of Mohammed First, Oujda, Morocco; Laboratory of Epidemiology, Clinical Research and Public Health, Faculty of Medicine and Pharmacy, University of Mohammed First, Oujda, Morocco"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"10397","published-online":{"date-parts":[[2026,5,6]]},"reference":[{"key":"10.12890\/2026_006206_ref1","doi-asserted-by":"crossref","unstructured":"Mori KS, Balachandran K, Asirvatham AR, Mahadevan S. \u2018H-syndrome\u2019: a multisystem genetic disorder with cutaneous clues. BMJ Case Rep 2021;14:e238973. doi: 10.1136\/bcr-2020-238973","DOI":"10.1136\/bcr-2020-238973"},{"key":"10.12890\/2026_006206_ref2","doi-asserted-by":"crossref","unstructured":"Hamad A, Elwaheidi H, Salameh F, Alyahya M, El Fakih R, Aljurf M. H-syndrome: a histiocytosis-lymphadenopathy plus syndrome. A comprehensive review of the literature. Hematol Oncol Stem Cell Ther 2024;17:159\u2013167. doi: 10.4103\/hemoncstem.HEMONCSTEM-D-24-00004","DOI":"10.4103\/hemoncstem.HEMONCSTEM-D-24-00004"},{"key":"10.12890\/2026_006206_ref3","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\u201388. doi: 10.1016\/j.jaad.2013.09.019","DOI":"10.1016\/j.jaad.2013.09.019"},{"key":"10.12890\/2026_006206_ref4","doi-asserted-by":"crossref","unstructured":"Elmansour OKA, Babikir AOA. H-syndrome: report of the first case in African ethnicity. 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