Archives of Pediatric Infectious Diseases

Published by: Kowsar

Primary Immune Deficiency or Infantile Hyaline Fibromatosis? A Case Report

Delara Babaie 1 , Mohammad Qaisari 2 , Hanieh Sadat Mirzade 1 , Fatemeh Abdolinejad 1 and Farahnaz Bidari Zerehpoush 3 , *
Authors Information
1 Mofid Children’s Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran
2 Skin Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran
3 Loghman Hakim Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran
Article information
  • Archives of Pediatric Infectious Diseases: October 2018, 6 (4); e62182
  • Published Online: August 7, 2018
  • Article Type: Case Report
  • Received: September 25, 2017
  • Revised: December 9, 2017
  • Accepted: December 13, 2017
  • DOI: 10.5812/pedinfect.62182

To Cite: Babaie D, Qaisari M , Mirzade H S , Abdolinejad F , Bidari Zerehpoush F. Primary Immune Deficiency or Infantile Hyaline Fibromatosis? A Case Report, Arch Pediatr Infect Dis. 2018 ; 6(4):e62182. doi: 10.5812/pedinfect.62182.

Copyright © 2018, Author(s). This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 International License ( 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
  • 1. Shieh JTC, Hoyme HE, Arbour LT. Hyalinosis, inherited systemic. GeneReviews. 2013.
  • 2. Momin YA, Bharambe BM, D'Costa G. Juvenile hyaline fibromatosis: a rare lesion. Indian J Pathol Microbiol. 2011;54(4):838-9. doi: 10.4103/0377-4929.91546. [PubMed: 22234127].
  • 3. Aghighi Y, Bahremand S, Nematollahi LR. Infantile systemic hyalinosis: report of three Iranian children and review of the literature. Clin Rheumatol. 2007;26(1):128-30. doi: 10.1007/s10067-005-0124-y. [PubMed: 16328093].
  • 4. Lindvall LE, Kormeili T, Chen E, Ramirez MC, Grum-Tokars V, Glucksman MJ, et al. Infantile systemic hyalinosis: Case report and review of the literature. J Am Acad Dermatol. 2008;58(2):303-7. doi: 10.1016/j.jaad.2007.06.008. [PubMed: 18222328].
  • 5. Klebanova Y, Schwindt C. Infantile Systemic Hyalinosis: A Case Report of Compromised Cellular and Humoral Branches of the Immune System Leading to Infections. Pediatr Asthma Allergy Immunol. 2009;22(3):127-30. doi: 10.1089/pai.2009.0011. [PubMed: 20563226]. [PubMed Central: PMC2885719].
  • 6. Nofal A, Sanad M, Assaf M, Nofal E, Nassar A, Almokadem S, et al. Juvenile hyaline fibromatosis and infantile systemic hyalinosis: a unifying term and a proposed grading system. J Am Acad Dermatol. 2009;61(4):695-700. doi: 10.1016/j.jaad.2009.01.039. [PubMed: 19344977].
  • 7. Glover MT, Lake BD, Atherton DJ. Infantile systemic hyalinosis: newly recognized disorder of collagen? Pediatrics. 1991;87(2):228-34. [PubMed: 1702887].
  • 8. Urbina F, Sazunic I, Murray G. Infantile systemic hyalinosis or juvenile hyaline fibromatosis? Pediatr Dermatol. 2004;21(2):154-9. doi: 10.1111/j.0736-8046.2004.21214.x. [PubMed: 15078358].
  • 9. Dowling O, Difeo A, Ramirez MC, Tukel T, Narla G, Bonafe L, et al. Mutations in capillary morphogenesis gene-2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemic hyalinosis. Am J Hum Genet. 2003;73(4):957-66. doi: 10.1086/378781. [PubMed: 12973667]. [PubMed Central: PMC1180616].
  • 10. Deuquet J, Lausch E, Superti-Furga A, van der Goot FG. The dark sides of capillary morphogenesis gene 2. EMBO J. 2012;31(1):3-13. doi: 10.1038/emboj.2011.442. [PubMed: 22215446]. [PubMed Central: PMC3252584].
  • 11. Warnatz C C R. Hypogammaglobulinemia and Common Variable Immunodeficiency. In: Kathleen E, Sullivan ERS, editors. Stiehm's Immune Deficiencies. UK: Elsevier; 2014. p. 347-61.
  • 12. Conley ME, Notarangelo LD, Etzioni A. Diagnostic criteria for primary immunodeficiencies. Representing PAGID (Pan-American Group for Immunodeficiency) and ESID (European Society for Immunodeficiencies). Clin Immunol. 1999;93(3):190-7. doi: 10.1006/clim.1999.4799. [PubMed: 10600329].
  • 13. Al-Herz W, Bousfiha A, Casanova JL, Chapel H, Conley ME, Cunningham-Rundles C, et al. Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency. Front Immunol. 2011;2:54. doi: 10.3389/fimmu.2011.00054. [PubMed: 22566844]. [PubMed Central: PMC3342372].
  • 14. Onigbanjo MT, Orange JS, Perez EE, Sullivan KE. Hypogammaglobulinemia in a pediatric tertiary care setting. Clin Immunol. 2007;125(1):52-9. doi: 10.1016/j.clim.2007.05.017. [PubMed: 17631052].

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