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European Archives of Paediatric Dentistry

, Volume 12, Issue 4, pp 224–226 | Cite as

Case report: Infantile systemic hyalinosis: a dental perspective

  • D. Olczak-KowalczykEmail author
  • E. Krasuska-Slawińska
  • D. Rokicki
  • M. Pronicki
Article

Abstract

BACKGROUND: Infantile systemic hyalinosis is a rare genetic disorder which involves accumulation of hyaline in the skin, bones, mucous membranes, and occasionally, also in internal organs. The major manifestations include painful articular contractures, cutaneous lesions (hyperpig-mentation, subcutaneous nodules), malnutrition resulting from diarrhoea, gingival, labial and buccal hypertrophy. CASE REPORT: The phenotype characteristics of infantile systemic hyalinosis (ISH) in a two year old boy were present. The characteristics of flattered occiput, limited limb movements and articular abnormalities of elbows and knees. Dental findings showed excessive gingival hypertrophy completely covering maxilary and mandibular teeth treatment. The gingival hypertrophy was surgically treated by gingivectomy under general anaesthesia. FOLLOW-UP: The patient showed a full constellation of clinical manifestations of the disease. Despite the surgical intervention no improvement in oral hygiene was observed. CONCLUSIONS: Surgical treatment of the gingival hypertrophy was the treatment of choice.

Keywords

Infantile systemic hyalinosis non-steroidal anti-inflammatory drugs medium chain triglyceridies 

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References

  1. Aghighi Y, Bahremand S, Nematollahi LR. Infantile systemic hyalinsis: report of three Iranian children and review of the literature. Clin Reumatol 2007; 26:128–130.CrossRefGoogle Scholar
  2. Al-Malik, Batheq MA, Rehhini ZA. Gingival hyperplasia in hyaline fibromatosis-a report of two cases. J Int Acad Peroodontol 2007; 9:42–48.Google Scholar
  3. Al-Mayouf S. Familial Arthropathy in Saudi Arabian Children. Demographic, clinical, and Biochemical Features. Arthritis Rheum 2007; 36:256–261.Google Scholar
  4. Al-Mubarak L, Al-Makadma A, Al-Khenaizan S. Infantile systemic hyalinosis presenting as intractable infantile dioarrhoea. Eur J Pediatr 2009; 168:363–365.PubMedCrossRefGoogle Scholar
  5. Al-Najjadah I, Bang R, Ghoneim I et al. Infantile Systemic Hyalinosis. J Cranifac Surg 2003; 14:719–723.CrossRefGoogle Scholar
  6. Borge FF, Shiraichi L, da Silva MR. Is focal segmentai glomerulosclerosis increasing in patients with nephrotic syndrome. Pediatr Nephrol 2007; 22:1309–1313.CrossRefGoogle Scholar
  7. Büyükgebiz B, Oztürk Y, Yilmaz S et al. A rare cause of protein-losing enteropathy and growth retardation in infancy: infantile systemic hyalinosis. Turkish J Pediatr. 2003; 45:258–260.Google Scholar
  8. Chaudhary SJ, Dayal PK. Hyalinosis cutis et mucosae. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 1995; 80:167–171.Google Scholar
  9. Devlin H, Sloan P, Thakkar NS. Oral manifestation of infantile systemic hyalinosis. J Oral Pathol Med. 1991; 24;140–143.CrossRefGoogle Scholar
  10. Editor Desk: Anthrax toxin receptors and infantile hyalinosis. Matrix Biology 2007; 26:73–74.CrossRefGoogle Scholar
  11. El-Kamah GY, Mostafa Ml. Heterogeneity and atypical presentation in infantile systemic hyalinosis with severe labio-gingival enlargement. First Egyptian report Dermatol OnLine Jour 2009; 15:6.Google Scholar
  12. Hahn H, Park YS, Ha IS et al. Age-related differences in Adriamycin-induced nephropathy. Pediatr Nephrol 2004; 19:761–766.PubMedCrossRefGoogle Scholar
  13. Lim AA, Kozakewich MD, Feingold M et al. Juvenile haline fibromatosis: report of a case and comparison with infantile systemic hyalinosis. J Oral Maxil-lofac Surg. 2005; 63:271–274.CrossRefGoogle Scholar
  14. Lindvall LE, Kormelli T, Chen E et al. Infantile systemic hyalinosis: Case report and review of the literature. J Am Acad Dermatol 2008; 58:303–307.PubMedCrossRefGoogle Scholar
  15. Norman B, Soni N, Madden N. Anaesthesia and juvenile hyaline fibromatosis. Britsh J Anaest. 1996; 76:163–166.CrossRefGoogle Scholar
  16. Osterby R, Hartmann A, Bangsted HJ. Structural changes in renal arterioles in Type I diabetic patients. Diabetologia 2002; 45:542–549.PubMedCrossRefGoogle Scholar
  17. Pollard M, Ollitte EM and Walker RWM. The anaesthetic management of a child withinfantile systemic hyalinosis. Pediatr Anesth 2008; 18:1123–1124.CrossRefGoogle Scholar
  18. Raham N, Dunstan M, Teare MD et al. The Gene for Juvenile Hyaline Fibromatosis Maps to Chromosome 4q21. Am J Hum Genet 2002; 71:975–980.CrossRefGoogle Scholar
  19. Shieh J, Hoyme H, Arbour L. Hyalinosis, inherited systemic. In: Pagon RA, Bird TD, Dolan CR, Stephens K, editors. Source GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2008 Feb 27.Google Scholar
  20. Shin HT, Palier A, Hoganson G et al. Infantile systemic hyalinosis. J Am Acad Dermatol 2004; 50:S61–4.PubMedCrossRefGoogle Scholar
  21. Yayli S, Unu S, Alpay K et al. A case of juvenile hyaline fibromatosis. J Dermatol 2006; 33:260–264.PubMedCrossRefGoogle Scholar
  22. Zolkpi Z, Longman C, Brown S et al: Skeletal muscle involvement in infantile systemic hyalinosis. Eur J Paediatr Neur 2003; 7:401–406.CrossRefGoogle Scholar

Copyright information

© European Archives of Paediatric Dentistry 2011

Authors and Affiliations

  • D. Olczak-Kowalczyk
    • 1
    Email author
  • E. Krasuska-Slawińska
    • 2
  • D. Rokicki
    • 3
  • M. Pronicki
    • 4
  1. 1.Pecliatric Dentistry DepartmentMedical University of WarsawWarsawPoland
  2. 2.Department of Oral PathologyThe Children’s Memorial Health InstituteWarsawPoland
  3. 3.Department of Metabolic Diseases, Endocrinology and DiabetesThe Children’s Memorial Health InstituteWarsawPoland
  4. 4.Department of PathologyThe Children’s Memorial Health InstituteWarsawPoland

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