Melkersson–Rosenthal syndrome is a rare neurological disorder characterized by recurring facial paralysis, swelling of the face and lips (usually the upper lip), and the development of folds and furrows in the tongue.

The condition is named after Ernst Melkersson and Curt Rosenthal

Onset is in childhood or early adolescence. After recurrent attacks (ranging from days to years in between), swelling may persist and increase, eventually becoming permanent. The lip may become hard, cracked, and fissured with a reddish-brown discoloration. The cause of Melkersson–Rosenthal syndrome is unknown, but there may be a genetic predisposition. It can be symptomatic of Crohn’s disease or sarcoidosis.

Some affected individuals may have all three of these features and others may have only one or two.

Melkersson Rosenthal syndrome is characterized by:

  • recurrent
  • long-lasting swelling of the face
  • particularly one or both lips (granulomatous cheilitis)
  • facial muscle weakness (palsy)
  • fissured tongue.
  • recurring facial paralysis
  • swelling of the face and lips (usually the upper lip)
  • development of folds
  • furrows on the tongue.
Melkersson–Rosenthal syndrome (MRS)
Melkersson–Rosenthal syndrome (MRS)

After recurrent attacks (ranging from days to years in between), swelling may persist and increase, eventually becoming permanent. The lip may become hard, cracked, and fissured with a reddish-brown discoloration.

The cause of Melkersson-Rosenthal syndrome is unknown, but there may be a genetic predisposition.

Other Names of Melkersson Rosenthal Syndrome

  • Melkersson Syndrome
  • MROS
  • MRS
  • Cheilitis Granulomatosa

Causes of Melkersson Rosenthal Syndrome

Melkersson Rosenthal Syndrome is thought to be caused by genetic factors in some cases because families have been described in which multiple members are affected. Melkersson Rosenthal Syndrome is sometimes a symptom of another condition such as Crohn’s disease or sarcoidosis. Dietary and other allergens may also be involved.

Only genetic causation is established as it is associated with twins and family members.

Signs & Symptoms of Melkersson Rosenthal Syndrome

The first symptom of MRS are described below, usually, 80%-99% of people have these symptoms

  • swelling of the upper lip or lower lip
  • swelling of one or both cheeks
  • swelling of eyelids, or rarely, one side of the scalp.
  • Cheilitis
  • Inflammatory abnormality of the skin
  • Mask-like facies
  • Oligosacchariduria
  • Periorbital edema
Melkersson–Rosenthal syndrome (MRS)
Melkersson–Rosenthal syndrome (MRS)

30%-79% of people have these symptoms

  • Facial palsy
  • Furrowed tongue
  • Macroglossia

5%-29% of people have these symptoms

  • Dysautonomia
  • Fever
  • Lymphadenopathy
  • Nystagmus

People have these Symptoms

  • Abnormality of the eye
  • Autosomal dominant inheritance
  • Facial edema

It usually occurs after episodes of lip swelling have already occurred but is sometimes the first symptom. The facial palsy can be on one side or both resolves initially but can become permanent.

Diagnosis of Melkersson Rosenthal Syndrome

Diagnosis is mainly based on clinical features. However, biopsy has been useful in diagnosis as well as in differentiating between the different types of the disease.

MRS is a clinical syndrome with no need for histological evidence in the establishment of a diagnosis and the absence of typical findings do not exclude it. However, histopathology may help to exclude other conditions and, in our case, allowed additional characterization of the underlying inflammatory process, which may help us better understand the mechanisms of the disease. A histological exam also revealed chronic sialadenitis of a minor salivary gland, although the patient has had no symptoms suggestive of exocrine gland dysfunction and no serological changes suggestive of an autoimmune disease.

An Incisional biopsy will be helpful for diagnosing Melkersson Rosenthal Syndrome

Histopathological examination reveals

  • labial mucosa with perivascular mononuclear inflammatory infiltration
  • fibrosis and an increase in neurovascular branching.

MRS is diagnosed with physical findings and history. A biopsy of the lips may be necessary to confirm the diagnosis in some cases. Specialized laboratory studies and procedures may be recommended to rule out Crohn’s disease and sarcoidosis.

Melkersson–Rosenthal syndrome (MRS)
Melkersson–Rosenthal syndrome (MRS)

Differential Diagnosis of Melkersson Rosenthal Syndrome

  • Sarcoidosis
  • Crohn’s disease
  • Bell’s palsy
  • Orofacial Granulomatosis

Decompression of facial nerve.(Melkersson-Rosenthal syndrome)-recurrent facial palsy,recurrent facial edema,congenitally furrowed tongue

Prognosis of Melkersson–Rosenthal syndrome

Melkersson–Rosenthal syndrome may recur intermittently after its first appearance. It can become a chronic disorder. Follow-up care should exclude the development of Crohn’s disease or sarcoidosis.

What is INHERITANCE Pattern of Melkersson–Rosenthal syndrome

  • Autosomal dominant
HEAD & NECK Symptoms
Face
– Facial edema
Eyes
– Insidious, painless, nonpitting eyelid edema
– Periorbital heterogeneous thickening on CT scan
– Granulomatous lymphangitis on eyelid biopsy
Mouth
– Lip swelling
– Scrotal tongue
– Fissured tongue
NEUROLOGIC
Peripheral Nervous System
– Recurrent peripheral facial palsy
MISCELLANEOUS
– Onset in childhood or youth
Melkersson–Rosenthal syndrome (MRS)
Melkersson–Rosenthal syndrome (MRS)

Treatment of Melkersson-Rosenthal syndrome

Treatment is symptomatic and may include nonsteroidal anti-inflammatory drugs (NSAIDs) and corticosteroids to reduce swelling, antibiotics, and immunosuppressants. Surgery may be indicated to relieve pressure on the facial nerves and reduce swelling, but its efficacy is uncertain. Massage and electrical stimulation may also be prescribed.

Most signs and symptoms of MRS resolve without treatment but episodes may occur more often and last longer if the condition is not treated. Treatment for MRS may include corticosteroid injections, nonsteroidal anti-inflammatory agents, and antibiotics. Surgery and/or radiation are sometimes recommended to reduce abnormally swollen lips.

Melkersson–Rosenthal syndrome may recur intermittently after its first appearance. It can become a chronic disorder. Follow-up care should exclude the development of Crohn’s disease or sarcoidosis.

The Melkersson-Rosenthal syndrome may present over the course of most of the lifespan and may require several years of observation to be diagnosed. Neurologists who observe a combination of facial edema and facial palsy in a patient should consider the diagnosis of MRS and proceed to a diagnostic skin biopsy and a trial of steroid treatment for their patient.

Following drugs can be given in Melkersson-Rosenthal syndrome

Melkersson–Rosenthal syndrome (MRS)
Melkersson–Rosenthal syndrome (MRS)
  • 0.5 mg/kg per day of oral deflazacort
  • minocycline (100 mg daily)
  • roxithromycin (150-300 mg daily); promising results have been obtained with metronidazole using doses of 750-1000 mg daily.
  • Infliximab, effective in the treatment of Crohn’s disease
  • Methotrexate reduces the proliferation of immune cell lines and was used effectively in doses of 5-10 mg given orally at weekly intervals.

A good oral hygiene, avoidance of irritating foods and intermittent use of anti-inflammatory and alkaline solutions may be of benefit in cases with fissured tongue.

LEAVE A REPLY

Please enter your comment!
Please enter your name here