Indian Journal of Pathology and Microbiology

: 2012  |  Volume : 55  |  Issue : 2  |  Page : 262-

Hyaline fibromatosis syndrome: New unifying term and surgical approach

Rafael Denadai1, Debora Romeo Bertola2, Cassio Eduardo Raposo-Amaral1,  
1 Institute of Plastic and Craniofacial Surgery, Brazilian Society of Research and Assistance to Craniofacial Rehabilitation Hospital (SOBRAPAR), Campinas, Brazil
2 Department of Pediatrics, Genetics Unit, Children's Institute, Clinics Hospital, Faculty of Medicine, University of Sao Paulo (HC-FMUSP), S�o Paulo, Brazil

Correspondence Address:
Rafael Denadai
Paula Fabiana Tudela, 161, Esmeralda, 17516-707, Marilia, S�o Paulo

How to cite this article:
Denadai R, Bertola DR, Raposo-Amaral CE. Hyaline fibromatosis syndrome: New unifying term and surgical approach.Indian J Pathol Microbiol 2012;55:262-262

How to cite this URL:
Denadai R, Bertola DR, Raposo-Amaral CE. Hyaline fibromatosis syndrome: New unifying term and surgical approach. Indian J Pathol Microbiol [serial online] 2012 [cited 2023 Sep 29 ];55:262-262
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We read with interest the article reported by Momin et al, [1] and we have the following comments to offer:

Although juvenile hyaline fibromatosis (JHF) and infantile systemic hyalinosis (ISH) present multiple overlapping features, including clinical characteristics, identical histopathologic patterns, and mutation in the same gene (anthrax toxin receptor-2), classically both disorders were reported as distinct diseases and it was adopted by the authors. [1] However, several aspects (e.g., age of onset, types of cutaneous lesion, and visceral involvement) that previously served to distinguish both diseases has also been described overlapping, demonstrating that ISH and JHF represent different degrees of severity of the same disorder. [2],[3],[4] Especially, the age which patients die has been abandoned as a mark of distinction between both diseases. [2] These aspects highlight the difficulty of classifying a patient to a single disease (JHF or ISH). Thus, some unifying terms have been proposed. [2],[3] As in the systemic hyalinosis nomenclature, [2] the term "systemic" excludes several JHF/ISH patients with localized disease, the adoption of a broader term (Hyaline Fibromatosis Syndrome; HFS) as proposed by Nofal et al,[3] and subsequently adopted by our group, seems to make the clinicopathological correlation to diagnose patients in a clearer and simpler way. [3],[4]

Additionally, HFS patients can be divided into mild, moderate, severe, and lethal subtypes (e.g., the child reported by Momin et al, [1] can be classified as a mild form) according to the severity grading system initially proposed by Nofal et al, [3] and recently updated by our group [4] ; therefore demonstrating accurately the complexity of this disease and also emphasizing the risk of potentially life-threatening complications. [3],[4]

Histologically, besides the aspects discussed by Momin et al, [1] it has been described in cutaneous lesions the proliferation of spindle cells without atypia forming strands in the midst of homogeneous and hyaline eosinophilic material that is more denser around certain blood vessels. [4]

HFS typically progresses with the appearance of new lesions and local recurrence following surgical resection. [4],[5] Multiple attempts at surgical treatment can sometimes be as crippling as the disease itself. [4],[5] Thus, our group [4] is reluctant to operate these patients early in life. The ideal timing remains controversial and the benefits of surgical procedure should outweigh the risks of recurrence and others complications. [4] Some groups [5] still adopt early intervention as a criterion standard treatment. However, it is extremely important to follow-up these HFS patients at least two years to achieve a more definitive conclusion. [4] In the light of these considerations, what is the criterion to indicate surgery for your HFS patients [1] ? What is the ideal timing for the surgical approach (immediately after the appearance of lesions or only when the lesions cause functional and/or aesthetic impairment)? Our main concern as plastic surgeons is to ameliorate the patient΄s quality of life with less surgical sequels.


1Momin YA, Bharambe BM, D'Costa G. Juvenile hyaline fibromatosis: a rare lesion. Indian J Pathol Microbiol 2011;54:838-9.
2Urbina F, Sazunic I, Murray G. Infantile systemic hyalinosis or juvenile hyaline fibromatosis? Pediatr Dermatol 2004;21:154-9.
3Nofal 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.
4Denadai R, Raposo-Amaral CE, Bertola D, Kim C, Alonso N, Hart T, et al. Identification of 2 novel ANTXR2 mutations in patients with hyaline fibromatosis syndrome and proposal of a modified grading system. Am J Med Genet A 2012;158A:732-42.
5Woyke S, Domagala W, Markiewicz C. A 19-year follow-up of multiple juvenile hyaline fibromatosis. J Pediatr Surg 1984;19:302-4.