DOI: 10.12890/2026_006206

An unusual syndromic presentation in diabetes: histiocytosis-lymphadenopathy plus syndrome

Authors

  • Hanae Rachedi Endocrinology, diabetology and nutrition department, Mohammed VI University Hospital Center, Faculty of Medicine and Pharmacy, University of Mohammed First, Oujda, Morocco
  • Khawla Rhouzali Endocrinology, diabetology and nutrition department, Mohammed VI University Hospital Center, Faculty of Medicine and Pharmacy, University of Mohammed First, Oujda, Morocco
  • Yousra Laalaoua Endocrinology, diabetology and nutrition department, Mohammed VI University Hospital Center, Faculty of Medicine and Pharmacy, University of Mohammed First, Oujda, Morocco
  • Nisrine Bouichrat 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
  • Siham Rouf 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
  • Hanane Latrech 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

hlatrech@hotmail.fr

Keywords

Histiocytosis-lymphadenopathy plus syndrome, H-syndrome, SLC29A3 gene, human equilibrative nucleoside transporter (hENT3), deformities, skin hyperpigmentation, diabetes mellitus

Abstract

Introduction: Histiocytosis-lymphadenopathy plus syndrome is a rare autosomal recessive multisystemic disorder caused by mutations in the SLC29A3 gene, 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: We 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: This 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: With 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.

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References

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Published

2026-05-06

Issue

Vol. 13 No. 6 (2026)

Categories

How to Cite

1.
Rachedi H, Rhouzali K, Laalaoua Y, Bouichrat N, Rouf S, Latrech H. An unusual syndromic presentation in diabetes: histiocytosis-lymphadenopathy plus syndrome. EJCRIM [Internet]. 2026 May 6 [cited 2026 Nov. 3];13(6). Available from: https://ejcrim.com/index.php/ejcrim/article/view/6206