Juvenile hyaline fibromatosis: impact of periodontal care on quality of life and a patient perspective

Case presentation

A 20-year-old male was initially referred to the Periodontal Department at Birmingham Dental Hospital in July 2008 from Ear Nose Throat (ENT) and Maxillofacial colleagues because of the complex oral management he required. The patient was wheelchair-bound with skin lesions, which were particularly prominent on the ears and nose. He also had marked gingival overgrowth. At the point of referral, his mouth opening was limited such that surgical management under general anaesthesia was not appropriate. It was deemed more suitable that his oral care be managed in a specialist periodontal environment (Figure 1).

Upon initial presentation, the patient's mouth opening was limited to approximately 30 mm and he was unable to chew. The maxillary overgrowth was such that the maxillary teeth appeared displaced palatally. Access to the retro-molar fossa for inferior alveolar nerve block local anaesthesia was extremely limited, with the pterygomandibular raphae just being visible. There was limited elasticity in the cheeks and the patient complained of waking with blood on his pillow (Figures 2 and 3).

The preliminary proposed treatment plan involved staged surgical procedures anteriorly to de-bulk the gingival overgrowth and facilitate exposure of the teeth for mastication. Due to the vascularity of the tissue, it was thought that local anaesthesia would be relatively short-lived. The patient had never experienced local anaesthesia intra-orally and, given the ‘cardboard-like’ consistency of the intra-oral local anatomy and sulcus to inject into, the gingival surgery was initially conducted in the lower incisor region only. If the patient was comfortable, a similar procedure was planned for the upper incisor region and, if this proved successful, then an attempt would be made to reduce the posterior overgrowth and de-bulk the hard palate.

The patient was also being treated for his temporomandibular joint dysfunction (TMJD) to improve mouth opening, though with limited success.

The histopathological report of the excised gingival tissue revealed that the mucosa was covered by parakeratinized squamous epithelium which was acanthotic and hyperplastic. The underlying corium was fibrous, hyperplastic and contained a florid lymphoplasmocytic infiltrate. In places there were sheets of densely hyalinized stroma in which there were fibroblasts present. These latter areas are typical of JHF. The diagnosis of JHF and fibro-epithelial hyperplasia was confirmed, the latter being most likely caused by chronic inflammation (Figure 4).

As well as being treated within the Birmingham Dental Hospital for management of his gingival overgrowth and TMJD, the patient was also under the care of ENT, who undertook surgery to ease the discomfort caused by multiple ear nodules in 2011 (Figure 5). Furthermore, in 2011, the patient was treated by the Rheumatology Department to manage his progressive skeletal deformity, particularly related to an increasing scoliosis concave to the right, with flexion contractures to the knees, hips and elbows. Both shoulders had limited mobility, and the right shoulder in particular showed no movement at all. There were also nodules over his fingers and bulbous enlargement of the thumbs (Figure 5). His hip rotation was limited, with hips flexed at 90 degrees, and there were longstanding deformities of the ankles and feet. A history of pressure sores to the heels and back were also reported.

The patient coped well with the local anaesthesia, as this was acutely painful when administered and he coped well psychologically, given that he had never previously experienced local anaesthesia.

In 2012, the patient returned to the Periodontal Department and was limited to a liquid diet as he was unable to swallow or chew food due to recurrence of his gingival overgrowth and reduced mouth-opening as a result of the TMJD. The patient reported shortness of breath and being aware of a decline in breathing capacity. Further gingival surgery was performed to facilitate improved function and ability to eat.

Further samples were sent for histopathological report from the palatal and buccal tissue in the maxillary arch. The underlying sub-mucosal architecture had been replaced by fibromatosis showing extensive hyaline change. The appearance was entirely consistent with JHF and there was associated chronic inflammation (Figure 6 a and b).

In 2013, the patient returned to the Periodontal Department and, over the previous six years, various surgical procedures had been conducted to uncover the patient's teeth which had been buried by overgrowth of gingival tissue (Table 1). Diathermy loops were employed to uncover the palate to reduce the risk of haemorrhage that would be difficult to control as a result of limited intra-oral access. However, surgery was progressively more challenging due to the patient's limited mouth-opening.

The major concerns at this point were that, as mouth-opening continued to deteriorate, the patient would be unable to eat and would require a PEG (percutaneous endoscopic gastrostomy). Also with mouth-opening, at less than 17 mm, access to perform surgery and maintaining his airway would be compromised. Referral was therefore made to maxillofacial colleagues within the TMJD clinic of Birmingham Dental Hospital. Wooden sticks and jaw exercises had already been attempted to improve jaw opening, but with little benefit, and therefore further suggestions for management of the trismus were requested.

Patient's reflections

‘My name is Shyam Chandegra and I suffer with a condition called systemic hyalinosis. The condition affects my joints, muscles and causes excessive tissue growth on my fingers and ears. The condition also causes my gums to overgrow which has resulted in me having numerous minor surgeries at the dental hospital. At first it was very difficult for me to chew any solid food due to my teeth being covered by the overgrowth and so it was very difficult for me to partake in family meals. But now, after having some repeated surgery, I can honestly say it has benefited me in such a way that I feel more independent because I am able to go out with friends and family to restaurants. Also, it has made my speech more clear, which helps me a lot as I'm an ambassador for Acorns Hospice for which I undertake numerous tasks which entails speaking in front of different organizations.’

Discussion

This report demonstrates how periodontal intervention, as part of an ongoing care pathway and multidisciplinary team approach, helped improve this patient's quality of life with an otherwise debilitating disease.

Initial management was conservative in order to enable the patient to cope with his first dental injection and with advanced dental surgery. A staged surgical approach was planned in order to establish feasibility of surgical intervention as a treatment modality, given the potential for haemorrhagic sequelae and the surgical challenges faced by the operator (ILC). It was also deemed important to consider patient factors and whether the patient could tolerate or, indeed, desired multiple surgical procedures. The difficulty faced by the operator included that of very limited access due to the patient's marked trismus. Likewise, gaining suitable levels of anaesthesia for patient comfort, and also ensuring airway patency were important considerations.

The patient tolerated the surgery extremely well, and was reviewed regularly and often instigated the process of further surgical procedures as and when he felt they were required. His positive attitude and excellent tolerance to surgical therapy has led to a very smooth communication pathway between himself, his family and the surgical team and a very good mutual understanding of his requirements and the limitations of surgical management. The removal of excess tissue in the posterior region of the oral cavity played an important role in maintaining airway patency. The positive impact of the surgery on the patient's functional and psycho-social wellbeing is evident from his personal reflection of the care offered. Prior to surgical intervention the patient was limited to a liquid diet; the surgery has thus had an impact on his nutritional state and general quality of life.

Conclusion

JHF is a rare condition with fewer than 70 reported cases in the literature (Appendix) and it is therefore important to report information about the condition, how it presents and possible interventions and management strategies in order to aid with diagnosis and management should a patient with similar clinical manifestations of the condition present in the future.

Despite the many symptoms the patient reported due to the condition, including spinal deformity, joint contractures and skin nodules, the provision of early dental management as part of a multidisciplinary team approach had a significant impact on his day-to-day life and greatly contributed to improving the patient's quality of life.