Combination of four features of SLC29A3 spectrum disorder in a child: A case report.
H syndrome
SLC29A3 disorder
histiocytosis‐lymphadenopathy plus syndrome
Journal
Pediatric dermatology
ISSN: 1525-1470
Titre abrégé: Pediatr Dermatol
Pays: United States
ID NLM: 8406799
Informations de publication
Date de publication:
30 Apr 2024
30 Apr 2024
Historique:
received:
27
08
2023
accepted:
30
03
2024
medline:
1
5
2024
pubmed:
1
5
2024
entrez:
1
5
2024
Statut:
aheadofprint
Résumé
SLC29A3 spectrum disorder, also known as histiocytosis-lymphadenopathy plus syndrome (HLPS), presents a wide variety of multi-systemic manifestations that can be mistaken for other conditions. Herein, we report a 9-year-old girl who presented with a complex clinical presentation since birth, including chronic generalized lymphadenopathy in association with hepatosplenomegaly, short stature, flexion contractures, hearing loss, hyperpigmentation, and heart anomalies. She was ultimately diagnosed with the SLC29A3 spectrum disorder.
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© 2024 Wiley Periodicals LLC.
Références
Bolze A, Abhyankar A, Grant AV, et al. A mild form of SLC29A3 disorder: a frameshift deletion leads to the paradoxical translation of an otherwise noncoding mRNA splice variant. PLoS One. 2012;7(1):e29708.
Yesudian P, Sarveswari K, Karrunya K, Thomas K. H syndrome‐a case report. Indian Dermatol Online J. 2019;10(3):300‐302.
Molho‐Pessach V, Ramot Y, Camille F, et al. H syndrome: the first 79 patients. J Am Acad Dermatol. 2014;70(1):80‐88.
Bagherian R, Yousefipour F, Mousavi HS, et al. Identification of a novel homozygous frameshift mutation in SLC29A3 gene in a case with H syndrome from Iran. Curr Res Transl Med. 2019;67(2):72‐75.
Malakan Rad E, Yaghmaei B, Ziaee V, Beirami F, Pouraliakbar H. Multimodality imaging of constrictive pericarditis in H syndrome. Echocardiography. 2021;38(6):1021‐1032.
Razmyar M, Rezaieyazdi Z, Tayebi Meibodi N, Fazel Z, Layegh P. H syndrome masquerade as rheumatologic disease. Int J Pediatr. 2018;6(7):7965‐7971.
Cliffe ST, Kramer JM, Hussain K, 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(12):2257‐2265.
Polat R, Ustyol A, Altunbaş R, Ceylaner S. Renal involvement in H syndrome, a rare cause of diabetes mellitus: case report. Endocr Metab Immune Disord Drug Targets. 2023;23(5):727‐731.
El‐Bassyouni HT, Thomas MM, Tosson AMS. Mutation in the SLC29A3 Gene in an Egyptian patient with H syndrome: a case report and review of literature. J Pediatr Genet. 2020;9(2):109‐113.
Molho‐Pessach V, Varma M, Godbole K, Kamath N, Zlotogorski A. H syndrome—four new patients from India. Indian J Dermatol Venereol Leprol. 2014;80(6):579.
Ahmed EOK, Ahmed BAO. H syndrome: report of the first case in African ethnicity. Cureus. 2022;14(3):e23281.
Avitan‐Hersh E, Mandel H, Indelman M, Bar‐Joseph G, Zlotogorski A, Bergman R. A case of H syndrome showing immunophenotye similarities to Rosai–Dorfman disease. Am J Dermatopathol. 2011;33(1):47‐51.
Colmenero I, Molho‐Pessach V, Torrelo A, Zlotogorski A, Requena L. Emperipolesis: an additional common histopathologic finding in H syndrome and Rosai–Dorfman disease. Am J Dermatopathol. 2012;34(3):315‐320.
Meena D, Chauhan P, Hazarika N, Kansal NK. H syndrome: a case report and review of literature. Indian J Dermatol. 2018;63(1):76‐78.
Low D‐E, Tang MM, Surana U, Lee JY, Pramano ZAD, Leong KF. H syndrome–the first report in Malaysia. Int J Dermatol. 2019;58(10):e190‐e193.
Senniappan S, Hughes M, Shah P, et al. Pigmentary hypertrichosis and non‐autoimmune insulin‐dependent diabetes mellitus (PHID) syndrome is associated with severe chronic inflammation and cardiomyopathy, and represents a new monogenic autoinflammatory syndrome. J Pediatr Endocrinol Metab. 2013;26(9–10):877‐882.
De Jesus J, Imane Z, Senee V, 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(3):281‐285.
Moynihan LM, Bundey SE, Heath D, et al. Autozygosity mapping, to chromosome 11q25, of a rare autosomal recessive syndrome causing histiocytosis, joint contractures, and sensorineural deafness. Am J Hum Genet. 1998;62(5):1123‐1128.
Prendiville J, Rogers M, Kan A, et al. Pigmented hypertrichotic dermatosis and insulin dependent diabetes: manifestations of a unique genetic disorder? Pediatr Dermatol. 2007;24(2):101‐107.
Bakhchane A, Kindil Z, Charoute H, et al. Compound heterozygous SLC29A3 mutation causes H syndrome in a Moroccan patient: a case report. Curr Res Transl Med. 2016;64(2):65‐68.