Infections, Whitish Skin Papules and Subcutaneous Nodules

  • Delara BabaeiEmail author


  • Hyaline fibromatosis syndrome (HFS) is an autosomal recessive condition characterized by abnormal hyaline deposition in body tissues, primarily skin and mucous membranes

  • Joint contractures, gingival hypertrophy, osteopenia, osteoporosis, failure to thrive, and protein losing enteropathy are among clinical features of HFS

  • Protein losing enteropathy might lead to infection susceptibility and secondary immunodeficiency


Protein losing enteropathy Hyaline fibromatosis syndrome CMG2 


  1. 1.
    Lehman H. Skin manifestations of primary immune deficiency. Clin Rev Allergy Immunol. 2014;46(2):112–9.CrossRefGoogle Scholar
  2. 2.
    Szczawinska-Poplonyk A, Gerreth K, Breborowicz A, Borysewicz-Lewicka M. Oral manifestations of primary immune deficiencies in children. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2009;108(3):e9–20.CrossRefGoogle Scholar
  3. 3.
    Rezaei N, de Vries E, Gambineri E, Haddad E. Common presentations and diagnostic approaches. In: Sullivan KE, Stiehm ER, editors. Stiehm’s immune deficiencies. London: Elsevier; 2014. p. 29.Google Scholar
  4. 4.
    Shieh JTC, Hoyme HE, Arbour LT. Hyalinosis, inherited systemic. GeneReviews, 11 Apr 2013.Google Scholar
  5. 5.
    Momin YA, Bharambe BM, D’Costa G. Juvenile hyaline fibromatosis: a rare lesion. Indian J Pathol Microbiol. 2011;54(4):838–9.PubMedGoogle Scholar
  6. 6.
    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.CrossRefGoogle Scholar
  7. 7.
    Lindvall LE, Kormeili T, Chen E, Ramirez MCM, 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.CrossRefGoogle Scholar
  8. 8.
    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.CrossRefGoogle Scholar
  9. 9.
    Glover MT, Lake BD, Atherton DJ. Infantile systemic hyalinosis: newly recognized disorder of collagen? Pediatrics. 1991;87(2):228–34.PubMedGoogle Scholar
  10. 10.
    Urbina F, Sazunic I, Murray G. Infantile systemic hyalinosis or juvenile hyaline fibromatosis? Pediatr Dermatol. 2004;21(2):154–9.CrossRefGoogle Scholar
  11. 11.
    Klebanov 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.CrossRefGoogle Scholar
  12. 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.CrossRefGoogle Scholar
  13. 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. 2015;35(8):696–726.Google Scholar
  14. 14.
    Cunningham-Rundles C, Warnatz K. Hypogammaglobulinemia and common variable immunodeficiency. In: Sullivan KE, Stiehm ER, editors. Stiehm’s immune deficiencies. London: Elsevier; 2014. p. 347–61.CrossRefGoogle Scholar
  15. 15.
    Onigbanjo MT, Orange JS, Perez EE, Sullivan KE. Hypogammaglobulinemia in a pediatric tertiary care setting. Clin Immunol. 2007;125(1):52–9.CrossRefGoogle Scholar
  16. 16.
    Woyke S, Domagala W, Markiewicz C. A 19-year follow-up of multiple juvenile hyaline fibromatosis. J Pediatr Surg. 1984;19:302–4.CrossRefGoogle Scholar
  17. 17.
    Remberger K, Krieg T, Kunze D, Weinmann H-M, Hübner G. Fibromatosis hyalinica multiplex (juvenile hyalin fibromatosis). Light microscopic, electron microscopic, immunohistochemical, and biochemical findings. Cancer. 1985;56:614–24.CrossRefGoogle Scholar
  18. 18.
    Kitano Y. Juvenile hyaline fibromatosis. Arch Dermatol. 1976;112:86–8.CrossRefGoogle Scholar
  19. 19.
    Aldred MJ, Crawford PJ. Juvenile hyaline fibromatosis. Oral Surg Oral Med Oral Pathol. 1987;63:71–7.CrossRefGoogle Scholar
  20. 20.
    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.CrossRefGoogle Scholar
  21. 21.
    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.CrossRefGoogle Scholar

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© Springer Nature Switzerland AG 2020

Authors and Affiliations

  1. 1.Department of Allergy and Clinical ImmunologyMofid Children’s Hospital, Shahid Beheshti University of Medical SciencesTehranIran

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