What does evidence show for treating Melkerson-Rosenthal syndrome with methotrexate?

Comment by InpharmD Researcher

Evidence for methotrexate in Melkerson-Rosenthal syndrome is very limited and comes primarily from isolated case reports. Available evidence describes inconsistent outcomes, with some patients showing gradual improvement in facial swelling, headache severity, or steroid dependence with low-dose weekly methotrexate, while others experienced little or no benefit, particularly when disease was progressive or systemic. In several cases, methotrexate was used along with intralesional corticosteroids (e.g., triamcinolone acetonide), making its independent effect difficult to determine.

Background

A 2025 review article meticulously examines the clinical presentation, diagnosis, and management of Melkersson-Rosenthal Syndrome (MRS), a rare neuro-mucocutaneous disorder. The review synthesizes information from case reports, clinical trials, and previous studies to present a comprehensive overview of this condition, highlighting the challenges in timely diagnosis and effective management due to its variable presentations and overlap with other diseases like Bell’s palsy and Crohn’s disease. The authors state that methotrexate is used as an immunosuppressive agent for refractory cases of MRS, specifically when patients do not respond adequately to corticosteroid therapy. Methotrexate is typically administered at 7.5 to 25 mg weekly, with the intended effect of inhibiting immune-mediated inflammation and reducing recurrence rates of MRS symptoms. It is listed among systemic immunosuppressants used to manage persistent or recurrent orofacial edema and facial palsy, alongside azathioprine, and is described as a long-term option. However, documented adverse effects such as immunosuppression and liver toxicity are reported. Notably, no additional efficacy data, comparative outcomes, or detailed clinical results regarding methotrexate use in MRS are provided in the article. In general, managing MRS requires careful ethical consideration, emphasizing patient autonomy and a holistic approach due to the condition's significant psychosocial impact and the potential side effects of long-term medications. Future prospects for care include research into genetic pathways and targeted biological therapies for more effective and less invasive treatment. [1]

A 2020 review article provides an extensive analysis of the management strategies for MRS. This review highlights the challenges in diagnosing MRS due to its varied clinical presentation and the rarity of all three cardinal symptoms appearing simultaneously. While there are no randomized controlled trials specifying the optimal corticosteroid regimen, corticosteroids are a central treatment, often leading to significant improvement and reduced relapse rates, despite a lack of standardized protocols. For localized orofacial edema, intralesional triamcinolone acetonide injections are highly effective, often providing long-term relief. However, the authors note that second-line immunosuppressants may be required in refractory or recurrent MRSm and methotrexate is listed among these options. Specifically, the review cites methotrexate in the context of systemic involvement or possible collagen vascular disease, referencing a report in which cutaneous Crohn’s disease mimicking MRS was treated with methotrexate; however, no controlled studies, dosing information, or direct evidence of methotrexate efficacy for classic MRS are described. Overall, treatment for MRS is typically chosen based on symptom presentation, with oral corticosteroids preferred for concurrent facial paralysis and edema, and intralesional injections for isolated or persistent swelling. [2]

A 2021 article reviewed the clinical and histopathological characteristics of MRS and orofacial granulomatosis across a cohort of 51 patients. Due to the absence of a universally successful treatment for MRS, a trial-and-error approach is necessary, with clinicians advised to continue a drug for at least three months before deeming it ineffective. In one study, the most common treatments were intralesional steroid injections, thalidomide, and dapsone, which showed the highest improvement rates. Many patients required combination therapy. Surgical intervention was reserved for specific situations: complete resistance to medication, residual lip enlargement after the disease was controlled, or severe gingival involvement that did not improve with drugs alone. Notably, systemic immunosuppressants, including methotrexate, were used in 8 of 51 eligible patients (15.68%) as part of the therapeutic interventions. However, the study does not provide disaggregated outcomes for methotrexate specifically, nor does it report detailed response rates, dosing regimens, duration, or adverse effects attributable to methotrexate alone. Instead, the authors note that overall treatment responses varied across modalities, and no single therapy demonstrated universal efficacy. [3]

References:

[1] Tidke M, Borghare P, Pardhekar P, Sheikh RS. Melkersson-rosenthal syndrome: a review of clinical presentation, diagnosis and management. JCDR. Published online June 1, 2025. doi:10.7860/JCDR/2025/76474.21058
[2] Dhawan SR, Saini AG, Singhi PD. Management Strategies of Melkersson-Rosenthal Syndrome: A Review. Int J Gen Med. 2020;13:61-65. Published 2020 Feb 26. doi:10.2147/IJGM.S186315
[3] Gavioli CF, Florezi GP, Lourenço SV, Nico MM. Clinical Profile of Melkersson-Rosenthal Syndrome/Orofacial Granulomatosis: A Review of 51 Patients. J Cutan Med Surg. 2021;25(4):390-396. doi:10.1177/1203475421995132

Literature Review

A search of the published medical literature revealed 4 studies investigating the researchable question:

What does evidence show for treating Melkerson-Rosenthal syndrome with methotrexate?

Level of evidence

D - Case reports or unreliable data  Read more→



Please see Tables 1-4 for your response.


 

Unsuccessful Treatment of Cheilitis Granulomatosa with Oral Methotrexate

Design

Case report

Case presentation

A 26-year-old man presented with a one-year history of diffuse, painless upper-lip swelling that had gradually become persistent. Examination showed localized, firm upper-lip edema, and biopsy demonstrated chronic non-caseating granulomatous inflammation, confirming cheilitis granulomatosa (CG).

He was treated with intralesional triamcinolone acetonide 10 mg/mL every 2 weeks, injected into the left side of the lip, alongside oral methotrexate 10 mg once weekly and daily folic acid 5mg. After 3 months, the injected side showed marked improvement, while the non-injected side remained unchanged; intralesional steroids were then administered to the right side as well. By 5 months, swelling had improved bilaterally.

Study Author Conclusions

We present a case who presented with asymptomatic swelling of the upper lip without gastrointestinal symptoms or other systemic symptoms. The diagnosis of CG was made by clinicopathological correlation. The management of CG remains challenging. Glucocorticoids are still the mainstay in the acute phase of the disease; however, recurrence may occur. Thus, long-term treatment options were discussed with the patient. He was treated with oral low-dose MTX in combination with intralesional steroid injection on one side of the upper lip every 2 weeks. The injected side showed improvement, while the noninjected side remained unchanged after 3 months of treatment. Therefore, from our experience, CG is refractory to treatment with MTX.

References:

Sutharaphan T, Chanprapaph K, Vachiramon V. Unsuccessful Treatment of Cheilitis Granulomatosa with Oral Methotrexate. Case Rep Dermatol. 2019;11(3):249-255. Published 2019 Sep 27. doi:10.1159/000503138

Melkersson-Rosenthal Syndrome: Elevations In Serum Angiotensin Converting Enzyme And Results Of Treatment With Methotrexate

Design

Case report

Case presentation

A 37-year-old male presented to the Veterans Administration Medical Center emergency room with intermittent facial swelling primarily affecting the right side, including the eye area, forehead, cheek, and lower lip. This swelling began in December 1985 and was associated with severe right-sided temporal headaches, which only subsided with sleep. The patient had a history of a significant eye injury from 1967 caused by an explosion in Vietnam, leading to an enucleation and a right orbital prosthesis. Despite the absence of cranial nerve palsies at the time, frequent headaches persisted. An otolaryngologic examination conducted four months later indicated no orbital infection but revealed decreased sensation in the areas innervated by the ophthalmic and maxillary divisions of the trigeminal nerve on the right side. A CT scan identified a 4 mm metallic foreign body in the lateral wall of the orbit, with no associated soft tissue swelling or cavernous sinus abnormalities. An initial diagnosis of Melkersson-Rosenthal syndrome was made, supported by the presence of a non-pitting, erythematous, edematous plaque and corroborated cranial nerve findings. Despite treatment with prednisone, acetaminophen with codeine, propranolol, and later amitriptyline and nifedipine, symptoms persisted, with facial swelling and incapacitating headaches remaining prominent issues. A trial of methotrexate began in September 1986, leading to significant improvements in facial swelling and a reduction in headache frequency and intensity over subsequent months. The patient's headaches became less severe, occurring only twice a week, and facial swelling episodes decreased. Overall, the methotrexate therapy was well-tolerated, and the patient experienced a gradual symptomatic improvement. Prednisone was withdrawn, and although there was some new ocular weakness, the patient's course appeared to be stabilizing after seven months of methotrexate therapy, with continued monitoring of serum angiotensin converting enzyme levels.

Study Author Conclusions

We have presented the case of a 37-year-old white man who had recurrent, unilateral, facial edema, temporary partial facial nerve palsy, sensory loss along the ophthalmic and maxillary divisions of the fifth cranial nerve, ageusia bilaterally on the anterior two thirds of the tongue, right extraocular muscle palsies, and intractable migraine-type headaches, leading to the diagnosis of Melkersson-Rosenthal syndrome. The serum angiotensin converting enzyme levels, which are postulated to derive from undiscovered granu-lomas, were found to be elevated. Methotrexate therapy mitigated the clinical course of the disease, and may prove to be useful in the treatment of this rare and recalcitrant condition.
References:

Leicht S, Youngberg G, Modica L. Melkersson-Rosenthal syndrome: elevations in serum angiotensin converting enzyme and results of treatment with methotrexate. South Med J. 1989;82(1):74-76.

Cutaneous Crohn's Disease Mimicking Melkersson-Rosenthal Syndrome: Treatment with Methotrexate

Design

Case report

Case presentation

A 36-year-old Caucasian woman presented with sudden, persistent, asymptomatic swelling of the upper lip and left cheek, initially diagnosed as angioedema and partially responsive to systemic corticosteroids. Recurrent swelling prompted biopsy, which demonstrated non-caseating granulomatous inflammation. Extensive laboratory evaluation, imaging, allergen testing, and initial colonoscopy were unremarkable. She was diagnosed with cheilitis granulomatosa (monosymptomatic Melkersson-Rosenthal syndrome) and experienced only partial or transient improvement with dapsone, doxycycline, and intralesional triamcinolone.

Over several years, swelling progressed to involve the right upper lip and cheek. A repeat colonoscopy, performed because of a remote perirectal abscess and a family history of Crohn’s disease, revealed terminal ileal inflammation with cryptitis and crypt abscesses, establishing a diagnosis of Crohn’s disease. After azathioprine was discontinued due to intolerance, methotrexate was initiated at 5 mg weekly, leading to marked reduction in facial swelling within 2 months; dose escalation to 10 mg weekly resulted in near-complete resolution, with sustained benefit over 16 months without complications.

Study Author Conclusions

This case supports the importance of vigilance and inquiry among patients with orofacial granulomatosis in order to avoid oversight of an underlying medical disorder such as Crohn’s disease. In addition, treatment of such patients with low doses of oral methotrexate may be associated with control of longstanding disease with minimal adverse effects.

References:

Tonkovic-Capin V, Galbraith SS, Rogers RS 3rd, Binion DG, Yancey KB. Cutaneous Crohn's disease mimicking Melkersson-Rosenthal syndrome: treatment with methotrexate. J Eur Acad Dermatol Venereol. 2006;20(4):449-452. doi:10.1111/j.1468-3083.2006.01458.x

An Extraordinary Form of the Melkersson-Rosenthal Syndrome Successfully Treated With the Tumour Necrosis Factor-α Blocker Adalimumab

Design

Case report

Case presentation

A 29-year-old male presented to the hospital with orofacial edema, a cobblestone appearance of the buccal mucosa, and tongue swelling, accompanied by intermittent fatigue, influenza-like symptoms, tinnitus, and acute hearing loss. Initial lab work was negative for infectious etiologies but demonstrated a moderate shift in leukocytes (neutrophilic granulocytes 78.1% and lymphocytes 13.4%), suggesting an underlying systemic disease. A biopsy of the oral mucosa confirmed non-caseating granulomatous inflammation consistent with Melkersson–Rosenthal syndrome (MRS).

Conventional therapy with prednisolone (60 mg/day) was attempted twice. Each course initially diminished symptoms, but tapering triggered rebound symptoms and worsening condition. As the patient’s condition progressed, repeat laboratory testing reflected increased disease activity (ANA titre to 1:320, thyroid autoantibodies to 509 U/mL, IgG cardiolipin antibodies to 31.7 U/mL, IgG levels to 21.4%, iron to 199 µg/dL, neutrophils to 89%, and lymphocytes down to 7%), in addition to a positive lupus screening test. Continued immunosuppressive therapy with prednisolone and subsequent trials with azathioprine (two 50 mg doses discontinued due to adverse effects) and methotrexate (15 mg/day) failed to provide durable symptom control or prevent ongoing systemic deterioration.

Given the absence of established therapeutic guidelines for MRS and following extensive discussion with the patient, clinicians initiated off-label treatment with adalimumab. The adalimumab regimen consisted of an 80 mg initial subcutaneous dose followed by 40 mg every three weeks, in combination with 20 mg/day of prednisolone. Under adalimumab therapy, the patient achieved complete remission of all symptoms, including the systemic manifestations that had more significantly affected his quality of life than the orofacial swelling. This improvement allowed for a gradual taper and eventual discontinuation of prednisolone without relapse of symptoms. Laboratory abnormalities also normalized during treatment, with restoration of lymphocyte counts, granulocyte balance, IgG, and iron levels.

Study Author Conclusions

Adalimumab appears to be able to cure MRS to the extent that all attendant symptoms were brought into lasting remission. Anti-TNFα therapy can therefore be considered a valid and effective therapy, which may be administered to patients with MRS after careful consideration of individual risks and benefits.
References:

Stein J, Paulke A, Schacher B, Noehte M. An extraordinary form of the Melkersson-Rosenthal syndrome successfully treated with the tumour necrosis factor-α blocker adalimumab. BMJ Case Rep. 2014;2014:bcr2014204674. Published 2014 May 14. doi:10.1136/bcr-2014-204674