Archives of Pediatric Infectious Diseases

Published by: Kowsar

A Child With H Syndrome

Amir Nasimfar 1 , Anahita Sanaei Dashti 2 , * and Hossein Haghbin 3
Authors Information
1 Department of Pediatrics, Urmia University of Medical Sciences, Urmia, IR Iran
2 Shiraz HIV/AIDS Research Center, Shiraz University of Medical Sciences, Shiraz, IR Iran
3 Professor Alborzi Clinical Microbiology Research Center, Namazi Hospital, Shiraz University of Medical Sciences, Shiraz, IR Iran
Article information
  • Archives of Pediatric Infectious Diseases: April 01, 2016, 4 (2); e28321
  • Published Online: February 23, 2016
  • Article Type: Case Report
  • Received: March 2, 2015
  • Revised: August 29, 2015
  • Accepted: September 22, 2015
  • DOI: 10.5812/pedinfect.28321

To Cite: Nasimfar A, Sanaei Dashti A, Haghbin H. A Child With H Syndrome, Arch Pediatr Infect Dis. 2016 ; 4(2):e28321. doi: 10.5812/pedinfect.28321.

Abstract
Copyright © 2016, Pediartric Infections Research Center. This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 International License (http://creativecommons.org/licenses/by-nc/4.0/) which permits copy and redistribute the material just in noncommercial usages, provided the original work is properly cited.
1. Introduction
2. Case Presentation
3. Discussion
Acknowledgements
Footnote
References
  • 1. Molho-Pessach V, Lerer I, Abeliovich D, Agha Z, Abu Libdeh A, Broshtilova V, et al. The H syndrome is caused by mutations in the nucleoside transporter hENT3. Am J Hum Genet. 2008; 83(4): 529-34[DOI][PubMed]
  • 2. 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(1): 79-85[DOI][PubMed]
  • 3. Hamadah IR, Banka N. Autosomal recessive plasma cell panniculitis with morphea-like clinical manifestation. J Am Acad Dermatol. 2006; 54(5 Suppl)-91[DOI][PubMed]
  • 4. Prendiville J, Rogers M, Kan A, de Castro F, Wong M, Junker A, et al. Pigmented hypertrichotic dermatosis and insulin dependent diabetes: manifestations of a unique genetic disorder? Pediatr Dermatol. 2007; 24(2): 101-7[DOI][PubMed]
  • 5. 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(1): 80-8[DOI][PubMed]
  • 6. Sayama K, Chen M, Shiraishi S, Miki Y. Morphea profunda. Int J Dermatol. 1991; 30(12): 873-5[PubMed]
  • 7. Doviner V, Maly A, Ne'eman 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(2): 118-28[DOI][PubMed]
  • 8. Soler C, Garcia-Manteiga J, Valdes R, Xaus J, Comalada M, Casado FJ, et al. Macrophages require different nucleoside transport systems for proliferation and activation. FASEB J. 2001; 15(11): 1979-88[DOI][PubMed]
  • 9. Minuesa G, Purcet S, Erkizia I, Molina-Arcas M, Bofill M, Izquierdo-Useros N, et al. Expression and functionality of anti-human immunodeficiency virus and anticancer drug uptake transporters in immune cells. J Pharmacol Exp Ther. 2008; 324(2): 558-67[DOI][PubMed]
  • 10. Baldwin SA, Yao SY, Hyde RJ, Ng AM, Foppolo S, Barnes K, et al. Functional characterization of novel human and mouse equilibrative nucleoside transporters (hENT3 and mENT3) located in intracellular membranes. J Biol Chem. 2005; 280(16): 15880-7[DOI][PubMed]
  • 11. Govindarajan R, Blonski M, Tse CMM, Wang J, Unadkat JD. The human equilibrative nucleoside transporter-3 is a mitochondrial transporter that transports anti-HIV dideoxynucleoside drugs. The FASEB Journal. 2008; 22(1_MeetingAbstracts): 1132.2
  • 12. Munnich A, Rustin P, Rotig A, Chretien D, Bonnefont JP, Nuttin C, et al. Clinical aspects of mitochondrial disorders. J Inherit Metab Dis. 1992; 15(4): 448-55[PubMed]
  • 13. Vellodi A. Lysosomal storage disorders. Br J Haematol. 2005; 128(4): 413-31[DOI][PubMed]
  • 14. Birch-Machin MA. Mitochondria and skin disease. Clin Exp Dermatol. 2000; 25(2): 141-6[PubMed]
  • 15. Bodemer C, Rotig A, Rustin P, Cormier V, Niaudet P, Saudubray JM, et al. Hair and skin disorders as signs of mitochondrial disease. Pediatrics. 1999; 103(2): 428-33[PubMed]
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