Indian Journal of Pathology and Microbiology
Home About us Instructions Submission Subscribe Advertise Contact e-Alerts Ahead Of Print Login 
Users Online: 11924
Print this page  Email this page Bookmark this page Small font sizeDefault font sizeIncrease font size

  Table of Contents    
Year : 2012  |  Volume : 55  |  Issue : 4  |  Page : 610
Juvenile Hyaline Fibromatosis or Hyaline Fibromatosis Syndrome?

Assistant Professor, Department of Pathology, Grant Government Medical College, Mumbai, India

Click here for correspondence address and email

Date of Web Publication4-Mar-2013

How to cite this article:
Bharambe B. Juvenile Hyaline Fibromatosis or Hyaline Fibromatosis Syndrome?. Indian J Pathol Microbiol 2012;55:610

How to cite this URL:
Bharambe B. Juvenile Hyaline Fibromatosis or Hyaline Fibromatosis Syndrome?. Indian J Pathol Microbiol [serial online] 2012 [cited 2021 Dec 4];55:610. Available from: https://www.ijpmonline.org/text.asp?2012/55/4/610/107860


We were enlightened by the response on our article by Rafael Dendai et al. [1]

We refreshed our knowledge through previous studies and found that infantile systemic hyalinosis and juvenile hyaline fibromatosis are allelic and intermediate phenotypes between these two disorders have been described. It has therefore been suggested that both disorders constitute parts of the same disease. [2] Thus, the adoption of another single term hyaline fibromatosis syndrome (HFS) seems to make the clinicopathological correlation in a clearer and simpler way for diagnosis and patients with HFS can be graded into mild, moderate, severe, and lethal subtypes. [3],[4] HFS is a human genetic disease caused by mutations in the anthrax toxin receptor 2 (cmg2) gene, which encodes a membrane protein thought to be involved in the homeostasis of the extracellular matrix. Little is known about the structure and function of the protein and the genotype-phenotype relationship of the disease. [5] No specific treatment is available. Early surgical excision is recommended by some authors in juvenile hyaline fibromatosis to prevent the appearance of new lesions, although excision may be followed by recurrences. Intralesional steroids may reduce the size of early lesions. Excision is indicated only for those lesions that either present a significant cosmetic problem or produce some degree of functional impairment. Capsulotomy of joints may show some temporary, beneficial effect; radiotherapy is ineffective. Gingival overgrowth may be treated with partial gingivectomy. Oral D-penicillamine has been used in some cases. Therapeutic trials with dimethyl sulfoxide, ketotifen and calcitriol are being done.

   References Top

1.Denadai R, Bertola DR, Raposo-Amaral CE. Hyaline Fibromatosis syndrome: New unifying term and surgical approach. Indian J Pathol Microbiol 2012;55:262.  Back to cited text no. 1
[PUBMED]  Medknow Journal  
2.Urbina F, Sazunic I, Murray G. Infantile systemic hyalinosis or juvenile hyaline fibromatosis? Pediatr Dermatol 2004;21:154-9.  Back to cited text no. 2
3.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;61:695-700.  Back to cited text no. 3
4.Deuquet J, Lausch E, Guex N, Abrami L, Salvi S, Lakkaraju A, et al. Hyaline fibromatosis syndrome inducing mutations in the ectodomain of anthrax toxin receptor 2 can be rescued by proteasome inhibitors. EMBO Mol Med 2011;3:208-21.  Back to cited text no. 4
5.Denadai R, Bertola DR, Raposo-Amaral CE. Systemic hyalinosis: New terminology, severity grading system, and surgical approach. J Pediatr 2012;161:173.  Back to cited text no. 5

Correspondence Address:
Bhavana Bharambe
Flat 32, Trimurti Bldg, Opp JJ Post Office, JJ Hospital Campus, Byculla, Mumbai
Login to access the Email id

Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0377-4929.107860

Rights and Permissions

This article has been cited by
1 A case report of juvenile hyaline fibromatosis
Mohammed H. Abduljabbar
Journal of Dermatology & Dermatologic Surgery. 2014; 18(1-2): 38
[Pubmed] | [DOI]


    Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
    Email Alert *
    Add to My List *
* Registration required (free)  


 Article Access Statistics
    PDF Downloaded47    
    Comments [Add]    
    Cited by others 1    

Recommend this journal