MELKERSSON-ROSENTHAL SYNDROME: SYMPTOMS, CAUSES - NEUROPSYCHOLOGY - 2025

The Melkersson-Rosenthal syndrome is a rare neurological disorder characterized by the presence of recurrent bouts of paralysis and facial edema. At the clinical level, its course is usually defined by a symptomatological triad consisting of a lingual fissure, facial / lingual edema and peripheral facial paralysis.

The etiological origin of this syndrome has not yet been identified. However, it is usually categorized as a neuro-muco-cutaneous disorder of a granulomatous inflammatory nature.

Despite this, in many cases its appearance has been associated with the suffering of other types of pathologies such as Crohn's disease, chronic infectious granulomas or sarcoidosis. Diagnosis is usually based on medical signs and histopathological results of laboratory tests.

There is no satisfactory curative treatment for the treatment of Melkersson syndrome. The approaches used usually focus on the administration of corticosteroids, antibiotics, radiation therapy, or facial surgery, although they only offer temporary results in most cases.

History

Melkersson-Rosenthal syndrome was initially described by the neurologist E. Melkersson in 1928. In his clinical report, Melkersson referred to various cases defined by the presence of lip swelling and recurrent facial paralysis.

Later, in 1931, the researcher C. Rosenthal added to the clinical description the identification of lingual fissures defined as scrotal or folded tongue. In addition, he focused on the analysis of the genetic factors of the syndrome. His studies were based on the family appearance of lingual alterations.

It was not until 1949 when Luscher made a grouping of clinical descriptions and names this clinical entity with the name of its discoverers, Melkersson-Rosenthal syndrome.

Despite this, some specialists like Stevens point out that this pathology could be identified by other authors, like Hubschmann in 1849 or Rossolino in 1901.

Currently, the National Institute of Neurological Disorders and Stroke defines Melkersson-Rosenthal syndrome as a rare neurological disorder characterized by recurrent facial paralysis, inflammation of different areas of the face and lips (especially the upper lip) and progressive development of grooves and folds on the tongue.

The initial manifestation of this syndrome is usually located in childhood or early adulthood. Its clinical course tends to be characterized by recurrent attacks or episodes of inflammation, which may be chronic.

Characteristics of Melkersson-Rosenthal syndrome

Melkersson-Rosenthal syndrome is a neuromucocutaneous disease with a complex clinical course. It is usually defined by a variable severity and evolution. It primarily affects the facial and oral regions, generating inflammatory and edematous processes.

The term neuromucocutaneous disease is usually used to refer to a group of pathologies characterized by the existence of a significant association between various dermatological abnormalities (cutaneous and mucosa) and a neurological involvement or disorder. Therefore, it can cause the appearance of signs and symptoms in any area of ​​the skin or any mucosal structure.

The mucosa is defined as a layer of connective and epithelial tissue that covers those body structures that are in direct contact with the external environment. Normally, they are associated with glands that secrete mucous or watery substances. They are responsible for providing moisture and immune protection.

In the case of Melkerson syndrome, the most affected areas are the skin structure of the face and the mucous areas of the mouth and tongue. Furthermore, in the clinical setting, Melkersson-Rosenthal syndrome is also referred to as a type of inflammatory granulomatosis.

This term is used to categorize various diseases characterized by the development of granulomas (inflammatory mass of immune cells) and abscesses (inflamed and purulent area) due to elevated immune susceptibility.

Statistics

Melkersson-Rosenthal syndrome is often considered a rare or rare disease in the general population. Epidemiological studies estimate the incidence of this pathology at 0.08%.

A significant number of specialists point out that this figure could be underestimated due to cases whose clinical presentation is mild and healthcare assistance is not requested.

Although it has a low incidence, Melkersson-Rosenthal syndrome is more common in women and tends to affect mostly Caucasian individuals.

It can appear in any age group, however, it is a more frequent syndrome among children or young adults. The most common is that it begins between the second and fourth decade of life.

The unknown aetiology and the limited prevalence of this syndrome mean that its diagnosis is significantly delayed and, consequently, therapeutic interventions.

Symptoms

Melkersson-Roshenthal syndrome is usually defined by a classic triad of symptoms consisting of facial paralysis, recurrent orofacial edema, and fissured tongue. Its complete presentation is rare, it is only described in 10-25% of diagnosed cases.

The most common is that it appears in its oligosymptomatic form. This is defined by the differential presentation of edema and facial paralysis or edema and fissured tongue.

The incomplete clinical course of Melkesson-Rosenthal syndrome is considered its most frequent form, accounting for 47% of cases. Next, we will describe the most characteristic signs and symptoms:

Facial paralysis

Facial paralysis has a neurological origin and is specified as an immobility of the muscles that innervate the facial areas. This medical condition is usually the result of the presence of temporary or permanent injuries to the facial nerves (inflammation, tissue damage, etc.).

The facial nerve, also called cranial VII, is a nerve terminal that is responsible for innervating various facial areas and adjacent structures. The main function of this structure is to control facial mimicry allowing the expression of emotions, the articulation of language sounds, blinking, feeding, etc.

The presence of various pathological factors, such as infectious processes, can cause the weakening or paralysis of the areas innervated by the facial nerve. In Melkersson-Rosenthal syndrome, facial paralysis may have a peripheral character, affecting only one side of the face with a recurrent course.

This symptom can be observed in more than 30% of those affected. It usually presents a rapid development, establishing itself in about 24-48 hours. In addition, the intermittent or recurrent appearance usually appears around 3 or 4 weeks later.

In some cases, facial paralysis can be total or partial and can generate sequelae related to ocular malocclusion. It is also possible to identify clinical manifestations related to involvement of other cranial nerves, such as the auditory, hypoglossal, glossopharyngeal, auditory and olfactory nerves.

Orofacial edema

Orofacial edema is often considered the central clinical manifestation of Melkerson-Rosenthal syndrome. It is the basic form of presentation in about 80% of cases. It is defined by the presence of an abnormal and pathological accumulation of fluid that generates inflammation or swelling of the affected area. It can completely or partially affect the face, tongue, gums or oral mucosa.

The most common is that a significant thickening of the lips is identified, especially the upper one. A structure 2 or 3 times higher than usual can be achieved.

Orofacial edema is likely to be accompanied by febrile episodes and other mild constitutional symptoms. This clinical symptom usually appears in a few hours or days, however, it is likely that in a short time its clinical course will acquire a recurrent character. As a consequence, the inflamed areas tend to progressively acquire a firm and hard structure.

Other manifestations related to painful erosions, redness, cracking of the commissures, burning sensation, hermitages, etc. may appear.

Fissured tongue

Another common symptom of Melkersson-Rosenthal syndrome is the development of a folded or scrotal tongue. The tongue acquires a longitudinal groove in the center and transverse fissures appear, acquiring a scrotal, cerebriform or folded appearance.

In general, an increase in the depth of the tongue grooves is observed, without causing erosion or involvement of the mucosa. This symptom is usually associated with a genetic abnormality and is usually accompanied by a reduction in taste acuity and paresthesias.

Causes

Current research has not yet been able to identify the causes of Melkerson-Rosenthal syndrome.

The National Organization for Rare disorders highlights the possible incidence of genetic factors given the description of family cases in which various members are affected by this pathology.

In addition, it also highlights the contribution of other types of pathologies to its presentation. Sometimes Crohn's disease, sacoidosis, or food allergies often precede the onset of Melkersson-Rosenthal syndrome.

Diagnosis

The diagnosis of this syndrome is made based on the suspicion of the classic symptomatological triad. There is no laboratory test that can unequivocally determine its presence.

However, histopathological studies are often used for the analysis of edema.

Treatment

Many of the signs and symptoms that make up the clinical course of Melkersson-Rosenthal syndrome usually resolve without therapeutic intervention. However, if no type of treatment is used, recurrent episodes may appear.

First-line treatment usually includes the administration of corticosteroids, non-steroidal anti-inflammatory drugs, and antibiotics. In other cases, surgical procedures or radiation therapy may be used. Especially in cases where there is a significant lip alteration.

References

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