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Table of Contents 
Year : 2017  |  Volume : 62  |  Issue : 2  |  Page : 210-212
Juvenile hyaline fibromatosis: A 10-year follow-up

1 Department of Periodontology, Faculty of Dentistry, Karadeniz Technical University, Trabzon, Turkey
2 Department of Periodontology, Faculty of Dentistry, Kocaeli University, Kocaeli, Turkey
3 Department of Pathology, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey
4 Beytepe Hospital Dental Clinic, Hacettepe University, Ankara, Turkey
5 Department of Plastic and Reconstructive Surgery, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey

Date of Web Publication9-Mar-2017

Correspondence Address:
Esra Baltacioglu
Department of Periodontology, Faculty of Dentistry, Karadeniz Technical University, Kanuni Kampusu, Trabzon 61080
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ijd.IJD_166_16

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Juvenile hyaline fibromatosis (JHF) is a rare hereditary disease with an autosomal recessive transmission. JHF is characterized by papulonodular skin lesions, osteolytic bone lesions, flexural joint contractures, and gingival hyperplasia and usually diagnosed in infancy or early childhood. JHF is thought to be a disorder of collagen metabolism and characterized by homogenous amorphous eosinophilic material and fibrous tissue. We report the case of a 14-year-old male child with multiple papulonodular skin lesions, progressive flexion contractures of joints, and severe gingival hyperplasia, with a 10-year follow-up. Although the lesions were totally removed thrice during the last 10 years, they recurred rigorously.

Keywords: Gingival hyperplasia, gingivectomy, juvenile hyaline fibromatosis

How to cite this article:
Baltacioglu E, Guzeldemir E, Sukuroglu E, Yildiz K, Yuva P, Aydin G, Karacal N. Juvenile hyaline fibromatosis: A 10-year follow-up. Indian J Dermatol 2017;62:210-2

How to cite this URL:
Baltacioglu E, Guzeldemir E, Sukuroglu E, Yildiz K, Yuva P, Aydin G, Karacal N. Juvenile hyaline fibromatosis: A 10-year follow-up. Indian J Dermatol [serial online] 2017 [cited 2021 Sep 25];62:210-2. Available from:

What was known?
Juvenile Hyaline Fibromatosis is a very rare hereditary disorder characterized by papulonodular skin lesions, osteolytic bone defects, joint contractures, and gingival hyperplasia.

   Introduction Top

Juvenile hyaline fibromatosis (JHF) is a rare mesenchymal dysplasia that is inherited in an autosomal recessive transmission with unknown etiology. JHF is characterized by tumorous and papulonodular skin lesions, osteolytic bone lesions, flexural joint contractures, and gingival hyperplasia.[1] The skin lesions may consist of multiple, large cutaneous nodules or tumors involving head, commonly the scalp, ears, nose, lower lips, neck, and perianal regions. Gingival hyperplasia which can in turn lead to malnutrition, recurrent infections, and even death is a substantial finding. JHF is usually diagnosed in young infants and in children younger than 5 years.[2] We here in report a severe case of JHF with a 10-year follow-up.

   Case Report Top

In 2003, a 14-month-old male child was referred to a dermatology clinic. The patient was born to third-degree consanguineous parents following normal pregnancy. His parents noticed limitation in moving his limbs after 2 months of his birth. When he was 6 months old, contractures of the knees and elbows and limitation of movement of the shoulders, wrists, ankles, interphalangeal joints, spine, hands, and hips were noticed.[3] Findings of his first evaluation included pink, confluent papules on the paranasal folds, chin, gluteal sulcus, and gluteofemoral regions, nodular lesions on his bilateral periauricular and perianal regions, joint contractures on his shoulders, knees, and elbows, and severe gingival hypertrophy.[4] Histopathological examination of a gingival biopsy revealed focal epithelial atrophy, proliferation of fibroblasts, superficial edema, and telangiectasia. No mitotic activity or nuclear pleomorphism was observed. Immunohistochemical studies showed that the spindle-shaped cells were positive for vimentin but negative for alpha-smooth muscle actin, S-100 protein. The patient was diagnosed with JHF by dermatologists based on these clinic and histopathological findings.

In 2004, severe gingival hyperplasia was noticed [Figure 1]a and [Figure 1]b and excised by cut cautery, and the other lesions were totally removed by scalpel under general anesthesia by a plastic and reconstructive surgeon.[3] The results of the histopathological examination showed an abundance of amorphous, homogeneous, eosinophilic extracellular matrix that contained spindle-shaped cells. The hyaline material was periodic acid-Schiff positive and did not stain with Congo red; the diagnosis was confirmed as JHF. As the literature review revealed that systemic steroid therapy and radiotherapy had only modest success and long-term risks, the patient was planned to be seen on follow-up visits frequently.
Figure 1: Intraoral views of severe gingival hyperplasia in 2004, with courtesy of Editor Tim McCalmont on behalf of the Journal of Cutaneous Pathology. (a and b) Intraoral views of severe gingival hyperplasia presented with edema, hyperemia and marginal inflammation, and dental caries in 2008 (c)

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In 2008, when he was 6 years old, he was referred to the Department of Periodontology for the evaluation of severe gingival hyperplasia. He had compromised oral hygiene and mastication and feeding and sucking difficulties, which lead to malnutrition caused by gingival overgrowth. Physical examination revealed multiple papular lesions on the neck, nodular lesions on the perianal region, flexion contracture of the joints, and limited motion of the right shoulder. Nodules in both ears and nodular and confluent, pink lesions in the nose were noted [Figure 2]a. Intraoral examination of the patient revealed diffuse gingival hyperplasia which presented with hyperemic, edematous, and inflammatory gingiva and spontaneous gingival bleeding. He also had multiple mucosal nodules and fibrous lesions on the buccal and labial mucosa [Figure 1]c.
Figure 2: The facial view of the patient in 2008 (a) and in 2012 (b)

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A periodontal surgery was planned for removing excessive gingival tissue and contouring the texture of the gingiva. Since he was 6 years old, the patient underwent gingivectomy operation (periodontal surgery) by scalpel under the general anesthesia. During the surgery, excessive hemorrhage was experienced. The severe periodontal destruction was observed especially in the posterior region where intense and larger gingival hyperplasia was seen as compared to other sides. Involved teeth were removed at the posterior region. Recovery from general anesthesia and postoperative healing was uneventful. [Figure 3] shows postoperative 10th day. However, the gingival hyperplasia was recurred in a month and persisted.
Figure 3: Postoperative 10th day following periodontal surgery (gingivectomy)

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The maintenance visits were scheduled; however, the patient did not show up. When we called the patient, his parents reported that he was not able to remove his body easily; they did not accept to bring him to the hospital. At the phone call, it was learned that the patient was operated once again in 2010 and all excessive tissues in his body were removed; nevertheless, the results could not be maintained and the recurrence was seen in 1½ years later and we informed that another operation was planned for him in November 2012.

Before fourth surgery, his physician referred the patient to a periodontology clinic. When he came for consultation in October 2012, prognosis of the disease was worse and all lesions were remarkably large compared to previous visits in 2003, 2004, and 2008 [Figure 2]b. Severe progressive flexion contractures of joints increasingly limit movement than previous visits.[3] He was almost unable to walk and had difficulties while breathing. Hard and large nodules were present over his entire scalp and in the periauricular region, in both ears and nose. He had severe gingival hyperplasia and his mouth opening was very limited because of stiffness in the temporomandibular joint. The patient was seen in the periodontology clinic in May 2013 for the last time due to similar severe oral clinic findings, and no surgical operation was applied on the gingiva due to the difficulty of the operation. The patient was then followed up by plastic surgeons. It was learned that any improvement was observed in the patients' clinic status, and the prognosis deteriorated.

   Discussion Top

In the present case report, the patient was 14 months old when he was diagnosed as JHF; the diagnosis was confirmed with histopathological examination of the gingival tissue specimens.[4],[5] When he was first sent to the periodontology clinic, he was 6 years old. He was suffering from severe gingival hyperplasia which resulted in feeding difficulties, impaired oral hygiene, and unaesthetic view. The recommended treatment for gingival hyperplasia due to JHF is the surgical removal of the enlarged tissues/lesions; however, recurrences are common.[6],[7],[8],[9]

The patient underwent a clinical follow-up examination. The rapid recurrences in a month were experienced following surgery. We failed to maintain postoperative result in long term. Nevertheless, control visits were scheduled; however, he did not show up after the last visit in 2008. On phone call, his parents reported that he could not remove easily due to severe flexion contractures joint and another surgery was planned for him soon. Then, he referred to periodontology for consultation in 2012 before surgery. Severe overgrowth of lesions and nodules and very limited mouth opening were noticed. Progressive flexion contractures of joints had increasingly limited movement compared to his visit in 2008. Contractures of the joints may be resulted with disability and immobilizing and need for wheelchair in his early adulthood.[10] Bound to wheelchair may trigger ulcerations, pain, and secondary infections. Hence, the main complications related to JHF are arising from contractions of joints and gingival overgrowth.[11]

There is strong evidence for the presence of a deleterious mutation in the capillary morphogenesis gene 2 located on chromosome 4q21.[11] Unraveling of this gene mutation responsible for this condition may lead the researchers correct this fundamental defect with gene therapies in the future and results with the cure of this life-restraining disease.[12]

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship


Conflicts of interest

There are no conflicts of interest.

   References Top

Karabulut AB, Ozden BC, Onel D, Demiryont M. Management of airway obstruction in a severe case of juvenile hyaline fibromatosis. Ann Plast Surg 2005;54:328-30.  Back to cited text no. 1
Shehab ZP, Raafat F, Proops DW. Juvenile hyaline fibromatosis. Int J Pediatr Otorhinolaryngol 1995;33:179-86.  Back to cited text no. 2
Karaçal N, Gülçelik N, Yildiz K, Mungan S, Kutlu N. Juvenile hyaline fibromatosis: A case report. J Cutan Pathol 2005;32:438-40.  Back to cited text no. 3
Yayli S, Uncu S, Alpay K, Yildiz K, Cimsit G, Bahadir S. A case of juvenile hyaline fibromatosis. J Dermatol 2006;33:260-4.  Back to cited text no. 4
Krishnamurthy J, Dalal BS, Sunila, Gubanna MV. Juvenile hyaline fibromatosis. Indian J Dermatol 2011;56:731-3.  Back to cited text no. 5
[PUBMED]  [Full text]  
Keser G, Karabulut B, Oksel F, Calli C, Ustün EE, Akalin T, et al. Two siblings with juvenile hyaline fibromatosis: Case reports and review of the literature. Clin Rheumatol 1999;18:248-52.  Back to cited text no. 6
Quintal D, Jackson R. Juvenile hyaline fibromatosis. A 15-year follow-up. Arch Dermatol 1985;121:1062-3.  Back to cited text no. 7
Katagiri K, Takasaki S, Fujiwara S, Kayashima K, Ono T, Shinkai H. Purification and structural analysis of extracellular matrix of a skin tumor from a patient with juvenile hyaline fibromatosis. J Dermatol Sci 1996;13:37-48.  Back to cited text no. 8
Slimani S, Haddouche A, Haid S, Ladjouze-Rezig A. Juvenile hyaline fibromatosis: Focus on radiographic features in adulthood. Rheumatol Int 2011;31:273-6.  Back to cited text no. 9
Ribeiro SL, Guedes EL, Botan V, Barbosa A, Freitas EJ. Juvenile hyaline fibromatosis: A case report and review of literature. Acta Reumatol Port 2009;34:128-33.  Back to cited text no. 10
Hakki SS, Ataoglu T, Avunduk MC, Erdemli E, Gunhan O, Rahman N. Periodontal treatment of two siblings with juvenile hyaline fibromatosis. J Clin Periodontol 2005;32:1016-21.  Back to cited text no. 11
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;73:957-66.  Back to cited text no. 12

What is new?

  • The present case is unique due to 10 years follow up, rapidly progressive tissue overgrowth, and severe stiffness of the joints which is life threatening.
  • The treatment of gingival hyperplasia due to JHF is surgical removal of the enlarged tissues; however, recurrences are common.


  [Figure 1], [Figure 2], [Figure 3]


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