Rosenthal syndrome

Overview

Rosenthal syndrome, also known as Melkersson–Rosenthal syndrome (MRS), is a rare neurological disorder characterized by a classic triad of symptoms: recurrent facial nerve palsy, chronic facial swelling (especially of the lips), and a fissured or furrowed tongue (lingua plicata). While all three symptoms may not be present at the same time in every patient, the combination of two or more features often leads to diagnosis.

MRS typically begins in childhood or early adulthood and may present episodically or progressively. The recurrent facial paralysis can be mistaken for Bell’s palsy, but the chronic swelling and distinctive tongue changes help differentiate the condition. Although benign, the syndrome can be cosmetically and functionally distressing, and early recognition is important for symptom control and quality of life.

Causes

The exact cause of Rosenthal syndrome is unknown, but it is believed to have a multifactorial origin involving genetic, inflammatory, and possibly allergic or infectious mechanisms.

Potential Contributing Factors:

• Genetic predisposition: Familial cases have been reported, suggesting a hereditary component

• Granulomatous inflammation: Histologic findings often show non-caseating granulomas, similar to those seen in Crohn’s disease or sarcoidosis

• Allergic or immune responses: May contribute to swelling episodes

• Infections: Viral or bacterial infections may trigger facial nerve inflammation

Associated Conditions:

• Crohn’s disease

• Sarcoidosis

• Down syndrome (in rare reports)

Symptoms

Symptoms of Rosenthal syndrome can appear individually or in combination. While the full triad is considered classic, it is only seen in a minority of patients. Episodes may last from days to weeks and recur unpredictably.

Core Triad of Symptoms:

• Facial nerve palsy: Sudden weakness or paralysis on one side of the face, often recurrent and sometimes affecting both sides over time

• Orofacial swelling: Most commonly affects the lips (cheilitis granulomatosa), but may involve eyelids, cheeks, or scalp

• Fissured tongue (lingua plicata): Deep grooves or fissures on the dorsal surface of the tongue; usually painless and present from birth or early childhood

Additional Symptoms:

• Facial pain or tingling

• Drooling or difficulty with facial movements during palsy episodes

• Difficulty speaking or eating during swelling episodes

• Cosmetic deformity due to chronic swelling

Diagnosis

Diagnosis of Rosenthal syndrome is clinical and based on the presence of one or more features of the characteristic triad. There is no specific diagnostic test, so ruling out other conditions is essential.

Clinical Evaluation:

• History of recurrent facial palsy and lip or facial swelling

• Observation of fissured tongue

• Evaluation of timing and recurrence of symptoms

Diagnostic Tests (to rule out other causes):

• MRI of the brain: To exclude structural lesions or multiple sclerosis

• Blood tests: To check for autoimmune markers, sarcoidosis (ACE levels), or Crohn’s-related inflammation

• Lip or mucosal biopsy: May reveal non-caseating granulomas confirming granulomatous cheilitis

• Genetic testing: Not routine, but may be done in familial cases or if syndromic associations are suspected

Differential Diagnosis:

• Bells palsy (isolated, non-recurrent facial palsy)

• Angioedema

• Granulomatous diseases like Crohn’s disease or sarcoidosis

• Allergic reactions

Treatment

There is no definitive cure for Rosenthal syndrome, and treatment focuses on managing symptoms and reducing inflammation. A multidisciplinary approach involving neurologists, dermatologists, and oral medicine specialists is often beneficial.

1. Medical Therapy:

• Corticosteroids: First-line treatment during acute swelling or facial palsy episodes (oral or injectable)

• Non-steroidal anti-inflammatory drugs (NSAIDs): For mild inflammation or pain

• Immunosuppressive agents: Such as methotrexate or azathioprine in chronic or steroid-resistant cases

• Antibiotics: Occasionally used if secondary infection or bacterial trigger is suspected

2. Surgical Options:

• Cheiloplasty: Surgical reduction of persistent lip swelling for cosmetic or functional reasons

• Facial nerve decompression: Rarely performed, but considered in severe, recurrent facial nerve palsy with poor recovery

3. Supportive Therapies:

• Physical therapy and facial exercises during recovery from facial palsy

• Speech therapy if articulation is affected

• Psychological support or counseling for patients affected by facial disfigurement or chronic symptoms

Prognosis

Rosenthal syndrome is a chronic, relapsing condition. The course can be unpredictable, with symptoms flaring and remitting over time. While it is not life-threatening, the disorder can cause cosmetic and emotional distress, particularly due to recurrent facial paralysis and persistent facial swelling.

With appropriate treatment and symptom management, many patients experience improved quality of life and reduced frequency of attacks. However, chronic or untreated inflammation may lead to permanent facial changes. Early diagnosis and intervention are key to preventing long-term complications and disfigurement.

Continued follow-up and monitoring are recommended, especially for patients with progressive swelling or neurological involvement.