Esther Hullah

Fifteen-minute consultation: a structured approach to the management of recurrent oral ulceration in a child

Objective To present a structured approach for an outpatient consultation of a child with recurrent mouth ulcers. Method Review of literature and description of approach followed in our unit. Conclusions The literature emphasises the need to consider local and systemic causes for oral ulceration in a child. Focused history and examination are key in establishing the cause and in order to ensure appropriate management.

Methotrexate-associated osteonecrosis of the jaw: A report of two cases

There has been a rise in medication-related osteonecrosis of the jaw (MRONJ) predominantly related to antiresorptive and antiangiogenic medications. More evidence is revealing that MRONJ is not limited to these drug groups. With the introduction of newer and varied medications used in the treatment of cancer and autoimmune diseases, reports of possible related osteonecrosis of the jaw (ONJ) are also on the rise. We present 2 cases of ONJ in patients with long-standing arthritis treated with methotrexate in the absence of a lymphoproliferative disorder and antiresorptive or antiangiogenic medications.

An Oral Disease Severity Score (ODSS) validated for use in oral pemphigus vulgaris

Pemphigus vulgaris (PV) is a rare autoimmune bullous disease, which can present with recalcitrant oral mucosal lesions. Optimal management of PV relies upon careful clinical assessment and documentation.

Orofacial Fistulae Associated with Crohn’s Disease

A 28-year-old man presented with facial lesions with discharge that had developed 6 years after a diagnosis of Crohns disease. MRI and radiography revealed three orocutaneous fistulae arising from inflamed oral mucosa associated with dental disease.

Genetic Association Analysis Reveals Differences in the Contribution of NOD2 Variants to the Clinical Phenotypes of Orofacial Granulomatosis.

Background:Orofacial granulomatosis (OFG) is a rare, inflammatory disorder of the mouth, in which some patients also have intestinal Crohns disease (CD). The etiology remains largely unknown, although there is a high prevalence of atopy, and oral granulomas are also seen in other immune disorders particularly CD and sarcoidosis. We investigated whether genetic variants associated with an increased risk of CD, sarcoidosis, or atopy were also associated with susceptibility to OFG. Methods:Patients were stratified clinically as isolated oral manifestations (OFG only) or concurrent intestinal CD (OFG+CD). We genotyped 201 patients and 1023 healthy controls for risk variants in NOD2, IRGM, IL23R, ATG16L1 (CD), BTNL2 (sarcoidosis), and FLG (atopy). The coding regions of the NOD2 gene were screened for rare, potentially pathogenic variants in OFG. Results:A combined analysis of 3 CD-risk variants in NOD2 showed no association with any OFG subgroup. NOD2 p.L1007insC was associated with OFG+CD (P = 0.023) and IL23R p.R381Q with all OFG (P = 0.031). The sarcoidosis risk variant rs2076530 in BTNL2 was associated with all OFG (P = 0.013). We identified 7 rare missense NOD2 alleles in 8 individuals with OFG, 4 OFG-only patients and 4 patients with OFG+CD. There was a significant enrichment of NOD2 variants in the OFG+CD group compared to the OFG-only group (P = 0.008, common variants; P = 0.04, all common and rare variants). Conclusions:Our findings suggest that genetic variants in NOD2 are only associated with OFG in patients with concurrent intestinal disease. A genome-wide association scan is needed to fully define the genetic architecture of OFG.

An Oral Disease Severity Score for pemphigus vulgaris

Pemphigus vulgaris (PV) is a rare and often serious autoimmune disease that causes painful blistering in a number of sites including the skin, mouth, nose, throat or genitals. It does this by producing harmful antibodies that are directed to the skin or mucous membranes. The mouth is a site where the disease often starts and may continue to be affected for many years. Immune suppressant medicines are used to treat PV but in order to use these effectively and safely, clinicians need an accurate and ‘reproducible’ method of assessing and recording the number and site of the lesions. Reproducible means that the test can be repeated by another person and the results will be the same. Scoring tools that have been scientifically validated are therefore used and include the Autoimmune Bullous Skin Disorder Intensity Score (ABSIS) and the Pemphigus Disease Area Index (PDAI). These include an oral (mouth) component but for patients with predominantly oral disease, we have devised a specific Oral Disease Severity Score (ODSS) which looks at 17 sites in the mouth, yet is quick and simple to use. In this UK study, we sought to validate ODSS and to compare its reproducibility with ABSIS, PDAI and the Physicians Global Assessment score. Ten oral medicine specialists, the majority unfamiliar with any of these methodologies, each scored 15 patients with oral PV on one day. Two clinicians rescored all 15 patients. The results have shown that the ODSS was both reliable and reproducible and was at least as good if not better than ABSIS and PDAI for assessing oral disease. By providing a more detailed method for assessing oral PV, we believe that ODSS will be more sensitive (accurate) for long term disease monitoring.

Azathioprine is effective for oral involvement in Crohn's disease but not for orofacial granulomatosis alone

BACKGROUND There have been no previous reports assessing the effectiveness of azathioprine (AZA) in the treatment of orofacial granulomatosis (OFG). This report is a review of patients receiving AZA for active OFG with or without concomitant gut Crohns disease (CD) in a specialist tertiary referral centre. METHODS Clinical response was defined by Global Physician Assessment at 4-, 12- and 24-month follow-up and a standardised oral disease activity score (ODAS). RESULTS Sixty of 215 patients seen with OFG in our clinic over a 12-year period were treated with AZA. Of these, 22 had concomitant CD. The proportion of patients responding to AZA with a diagnosis of CD/OFG vs. OFG only at 4, 12 and 24 months were 54% vs. 21% (P = 0.03), 59% vs. 21% (P = 0.003) and 41% vs. 24% (P = 0.16), respectively. A statistically significant difference was seen between starting and follow-up ODAS scores at 4 months in the CD/OFG group which was not observed in the OFG only group. Factors predicting a need for AZA included a diagnosis of intestinal CD, sulcal swelling, sulcal ulcers and upper lip involvement. The factor predicting response to treatment was a diagnosis of CD at 12 months of follow-up. No difference in the number of adverse effects was observed between the two groups of patients. CONCLUSIONS AZA is significantly more effective in the treatment of oral disease with a concurrent diagnosis of CD rather than in the treatment of OFG alone.