Abstract
Background
H syndrome ([OMIM] 602782) is an autosomal recessive disorder with systemic manifestations and characteristic skin lesions, caused by mutations of the SLC29A3 gene. Short stature and diabetes mellitus are the major endocrine problems related to H syndrome, however, clear data from clinical follow-up of H syndrome patients is lacking in the literature.
Case presentation
Here, we present follow-up of a Turkish girl diagnosed with H syndrome at the age of 10 with a homozygous 310(c.933T>A, p.C310X) early stop codon mutation on exon 6 of the SLC29A3 gene. She had severe short stature non-responsive to growth hormone (GH) treatment and gluten-free diet despite low GH levels and celiac antibody positivity. She developed insulin dependent diabetes mellitus (IDDM) symptoms 6 years after the initial diagnosis.
Conclusions
H syndrome patients can develop IDDM years after characteristic symptoms. Short stature in H syndrome patients may not respond to GH replacement or gluten-free diet alone.
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Research funding: None declared.
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
References
1. Molho-Pessach V, Ramot Y, Camille F, Doviner V, Babay S, et al. The H syndrome: the first 79 patients. J Am Acad Dermatol 2014;70:80–8.10.1016/j.jaad.2013.09.019Search in Google Scholar PubMed
2. Hsu C-L, Lin W, Seshasayee D, Chen YH, Ding X, et al. Equilibrative nucleoside transporter 3 deficiency perturbs lysosome function and macrophage homeostasis. Science 2011;335:89–92.10.1126/science.1213682Search in Google Scholar PubMed
3. Mutlu GY, Ramot Y, Babaoglu K, Altun G, Zlotogorski A, et al. Agenesis of the inferior vena cava in H syndrome due to a novel SLC29A3 mutation. Pediatr Dermatol 2013;30:e70–3.10.1111/pde.12085Search in Google Scholar PubMed
4. Mistry A, Parry D, Matthews B, Laws P, Goodfield M, et al. A case of SLC29A3 Spectrum disorder-unresponsive to multiple immunomodulatory therapies. J Clin Immunol 2016;36:429–33.10.1007/s10875-016-0301-6Search in Google Scholar PubMed
5. Bloom JL, Lin C, Imundo L, Guthery S, Stepenaskie S, et al. H syndrome: 5 new cases from the United States with novel features and responses to therapy. Pediatr Rheumatol 2017;15(1):76.10.1186/s12969-017-0204-ySearch in Google Scholar PubMed PubMed Central
6. Barstow C, Rerucha C. Evaluation of short and tall stature in children. Am Fam Physician 2015;92:43–50.Search in Google Scholar
7. Broshtilova V, Ramot Y, Molho-Pessach V, Zlotogorski A. Diabetes mellitus may be the earliest and sole manifestation of the H syndrome. Diabet Med 2009;26:1179–80.10.1111/j.1464-5491.2009.02843.xSearch in Google Scholar PubMed
8. Elbarbary NS, Tjora E, Molnes J, Lie BA, Habib 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. Pediatr Diabetes 2012;14:466–72.10.1111/j.1399-5448.2012.00925.xSearch in Google Scholar PubMed
9. Hussain K, Padidela R, Kapoor RR, James C, Banerjee K, et al. Diabetes mellitus, exocrine pancreatic deficiency, hypertrichosis, hyperpigmentation, and chronic inflammation: Confirmation of a syndrome. Pediatr Diabetes 2008;10:193–7.10.1111/j.1399-5448.2008.00470.xSearch in Google Scholar PubMed
10. Cliffe ST, Kramer JM, Hussain K, Robben JH, de Jong EK, et al. SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway. Hum Mol Genet 2009;18:2257–65.10.1093/hmg/ddp161Search in Google Scholar PubMed
11. Prendiville J, Rogers M, Kan A, de Castro F, Wong M, et al. Pigmented hypertrichotic dermatosis and insulin dependent diabetes: manifestations of a unique genetic disorder? Pediat Derm 2007;24:101–7.10.1111/j.1525-1470.2007.00352.xSearch in Google Scholar PubMed
12. Jesus JD, Imane Z, Senée V, Romero S, Guillausseau PJ, et al. 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;39:281–5.10.1016/j.diabet.2013.03.007Search in Google Scholar PubMed
13. Marina S, Broshtilova V. POEMS in childhood. Pediatr Dermatol 2006;23:145–8.10.1111/j.1525-1470.2006.00201.xSearch in Google Scholar PubMed
14. Tekin B, Atay Z, Ergun T, Can M, Tuney D, et al. H syndrome: a multifaceted histiocytic disorder with hyperpigmentation and hypertrichosis. Acta Dermato Venereologica 2015; 95:1021–3.10.2340/00015555-2145Search in Google Scholar PubMed
©2019 Walter de Gruyter GmbH, Berlin/Boston