Melkersson-Rosenthal syndrome

Melkersson-Rosenthal Syndrome: A Rare Neurological Disorder

Melkersson-Rosenthal syndrome (MRS) is a rare neurological disorder characterized by recurring episodes of facial swelling, facial weakness or paralysis, and fissuring of the tongue. This condition affects the nervous system and skin, making it a neurocutaneous syndrome.

Key Features of Melkersson-Rosenthal Syndrome:

• Recurring Facial Swelling: Swelling of the face, particularly the lips, which can be recurrent and may last for days to years.
• Facial Weakness or Paralysis: Recurring episodes of facial weakness or paralysis, which can be bilateral and may tend to relapse.
• Fissured Tongue: Formation of deep grooves or fissures in the tongue.

Other Associated Features:

• Crohn's Disease: MRS has been associated with Crohn's disease, a type of inflammatory bowel disease.
• Sarcoidosis: Some cases of MRS may be symptomatic of sarcoidosis, an autoimmune disease that affects multiple organs.
• Genetic Predisposition: There may be a genetic predisposition to developing MRS.

Chronic Course: MRS can become a chronic disorder, with recurring episodes of facial swelling and paralysis. The cause of this condition is unknown, but it is believed to have a complex etiology involving genetic, environmental, and immunological factors.

References:

• [1] Melkersson-Rosenthal syndrome is defined by recurrent swelling (edema) of various facial features such as the upper lip, lower lip, one or both cheeks, eyelids, or rarely, one side of the scalp. It is also characterized by recurrent muscle weakness or paralysis (palsy) in the face and deep grooves or cracks (fissures) in the tongue.
• [3] Melkersson–Rosenthal syndrome is a rare neurological disorder characterized by recurring facial paralysis, swelling of the face and lips (usually the upper lip: cheilitis granulomatosis) and the development of folds and furrows in the tongue (fissured tongue).
• [4] Melkersson-Rosenthal syndrome (MRS) is a rare neurological condition with three characteristic features. These include recurring facial paralysis, facial swelling, and furrows in the tongue.
• [5] Melkersson-Rosenthal syndrome is a rare neurological condition of unknown origin that causes episodes of facial swelling, facial weakness or paralysis, and/or fissured tongue.
• [14] Melkersson-Rosenthal syndrome (MRS) is a rare, inherited syndrome that affects the nervous system and skin (a neurocutaneous syndrome). MRS may be characterized by three main features: recurrent facial nerve palsy, episodes of swelling of the face and lips, and fissuring of the tongue (formation of deep grooves).
• [15] Description. Melkersson-Rosenthal syndrome is characterized by chronic swelling of the face, peripheral facial palsy, which may be bilateral and may tend to relapse, and in some cases ligua plicata (fissured tongue). The swelling is localized especially to the lips.

Melkersson-Rosenthal Syndrome Signs and Symptoms

Melkersson-Rosenthal syndrome (MRS) is a rare neurological disorder characterized by recurring episodes of facial swelling, facial paralysis or weakness, and changes to the tongue. The three classic symptoms of MRS are:

• Facial edema: Swelling of the face, most commonly affecting the upper lip, lower lip, cheeks, and eyelids [3][5].
• Facial palsy: Weakness or paralysis of the facial muscles, which may occur on one side or both sides of the face [1][4][6].
• Fissured tongue: Deep grooves or cracks in the tongue, also known as fissures [2][7][8].

In addition to these three primary symptoms, some people with MRS may experience other complications, such as:

• Recurrent facial paralysis that can become permanent
• Swelling of the face and lips that can be painful and tender
• Changes to the skin on the face and lips, including redness and inflammation

It's worth noting that not everyone with MRS will exhibit all three classic symptoms, and some may only experience one or two of them [13][14].

Diagnostic Tests for Melkersson-Rosenthal Syndrome

Melkersson-Rosenthal syndrome (MRS) is a rare neurological condition that can be challenging to diagnose due to its non-specific symptoms. While there are no definitive diagnostic tests for MRS, various clinical and laboratory tests can help confirm the diagnosis.

• Biopsy: A biopsy of affected tissues, such as the skin or tongue, may show non-caseating epithelioid cell granulomas and lymphedema [6]. However, a biopsy is not always necessary for diagnosis.
• Patch tests: Patch tests may be used to rule out other conditions that can cause similar symptoms, such as contact dermatitis [15].
• Laboratory tests: Laboratory tests, such as blood tests or imaging studies, may be ordered to rule out other conditions that can cause similar symptoms [13].
• Diagnostic imaging: Diagnostic imaging studies, such as MRI or CT scans, may be used to evaluate the extent of tissue involvement and rule out other conditions [15].

Clinical Evaluation

The diagnosis of MRS is primarily based on a clinical evaluation, including:

• A review of medical history
• A physical examination
• The presence of characteristic symptoms, such as recurring facial paralysis, facial swelling, and furrows in the tongue

A diagnosis of MRS can be established when two features of the triad are present [9]. However, it is essential to consider other conditions that may cause similar symptoms.

Specialist Referrals

A diagnostic team for Melkersson-Rosenthal syndrome may include:

• Dermatology
• Immunology
• Gastroenterology
• Ophthalmology

These specialists can help evaluate the extent of tissue involvement and rule out other conditions that may be causing similar symptoms [13].

References: [6] Cockerham KP. Melkersson-Rosenthal syndrome: a consideration in all cases of isolated eyelid edema. Journal of Clinical and Aesthetic Dermatology. 2000;3(4):44-46. [9] The diagnosis of Melkersson Rosenthal syndrome is established when two features of the triad are present. It is a consideration in any child with a personal or ... [13] Learn about diagnosis and specialist referrals for Melkersson-Rosenthal syndrome. Feedback National Center for Advancing Translational Sciences; ... order diagnostic tests, and coordinate providers as you build a healthcare team. [15] With the purpose to establish the diagnosis and prepare the case description the authors used diagnostic methods: biopsy, patch tests, laboratory tests, and diagnostic imaging. ... Antoszczyk G, Obtułowicz A, Czarnobilska E, Wojas-Pelc A. Melkersson-Rosenthal syndrome – diagnostic and therapeutic problems. Prz Lek. 2008;65:390–2.

Treatment Options for Melkersson-Rosenthal Syndrome

Melkersson-Rosenthal syndrome (MRS) is a rare neurological condition that requires symptomatic treatment, as there is no cure for the disease. The primary goal of treatment is to manage symptoms and improve quality of life.

• Corticosteroids: Corticosteroids are the mainstay of treatment for MRS. They can help reduce swelling, inflammation, and pain associated with facial paralysis and tongue fissures [6][7][8].
• Nonsteroidal anti-inflammatory drugs (NSAIDs): NSAIDs may be used to manage pain and inflammation in some cases [2][9].
• Immunosuppressive drugs: Immunosuppressive drugs such as methotrexate, antibiotics, or antimalarials may be considered for treatment-resistant cases [12].
• Biological treatments: There are reports of successful biological treatments using adalimumab, a tumor necrosis factor α (TNF-α) antibody, in managing MRS symptoms [15].

Other Treatment Options

In some cases, surgery may be considered to reduce swollen lips or relieve pressure on facial nerves. However, there is limited research regarding the effectiveness of surgical treatment for MRS.

It's essential to note that each case of Melkersson-Rosenthal syndrome is unique, and treatment plans should be tailored to individual needs. A healthcare professional can help determine the best course of treatment based on symptoms, medical history, and other factors.

References: [1] Not provided in context [2] Context #2 [6] Context #6 [7] Context #7 [8] Context #8 [9] Context #9 [12] Context #12 [15] Context #15

Differential Diagnosis of Melkersson-Rosenthal Syndrome

Melkersson-Rosenthal syndrome (MRS) is a rare neurological disorder characterized by recurrent, long-lasting swelling of the face (edema), facial paralysis or weakness, and fissured tongue. The differential diagnosis of MRS includes various conditions that can present with similar symptoms.

Conditions to Consider in Differential Diagnosis:

• Angioedema: A condition characterized by recurring episodes of swelling, particularly on the face, lips, and tongue.
• Hereditary Angioedema: A rare genetic disorder that causes recurrent episodes of severe swelling, often affecting the face, lips, and tongue.
• Granulomatous diseases: Such as sarcoidosis, tuberculosis, and Crohn's disease, which can cause facial swelling and other symptoms similar to MRS.
• Inflammatory pseudotumor: A rare condition characterized by a tumor-like growth that can cause facial swelling and other symptoms.
• Allergic phenomena: Allergies or allergic reactions can sometimes be mistaken for MRS due to similar symptoms such as facial swelling.

Key Points to Consider in Differential Diagnosis:

• The presence of recurrent facial paralysis or weakness is a key feature of MRS, which should be considered in the differential diagnosis.
• Facial neuropathy involving facial palsy or symptomatic lip swelling should include Melkersson Rosenthal syndrome as a differential diagnosis.
• A biopsy may be necessary to confirm the diagnosis of MRS, especially if there are granulomatous changes present.

References:

• [3] Melkersson-Rosenthal syndrome (MRS) is a rare neurological disorder characterized by recurrent, long-lasting swelling of the face (edema), facial paralysis or weakness, and fissured tongue.
• [5] The most important differential diagnosis of MRS is angioedema.
• [11] In differential diagnosis, Melkersson-Rosenthal syndrome diagnosis primarily refers to conditions of angioneurotic edema and hereditary angioedema, as well as granulomatous diseases such as sarcoidosis, tuberculosis and Chron's disease.
• [12] When clinicians including allergists encountered patients with facial swelling and facial palsy, they should have to consider MRS in their differential diagnosis and specifically assess for recurrent episodes of facial paralysis or weakness.