Melkersson Rosenthal syndrome
Melkersson-Rosenthal syndrome is a rare, inherited neurological disorder that affects the nervous system and skin (a neurocutaneous syndrome). Melkersson-Rosenthal syndrome may be characterized by three main features: recurrent facial nerve palsy, episodes of swelling of the face and lips (usually the upper lip) and fissuring of the tongue (formation of deep grooves). The majority of people with Melkersson-Rosenthal syndrome only have one or two of these features, rather than all three 1. The age when symptoms begin and frequency of episodes varies from person to person (even within the same family), but usually symptoms begin during childhood or early adolescence 2. 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. Melkersson-Rosenthal syndrome is more common in females than in males 1. Approximately 300 cases have been reported but the condition may be under-diagnosed because facial palsy is not always present 3.
The cause of Melkersson-Rosenthal syndrome is unknown, but there may be a genetic predisposition. Inheritance of Melkersson-Rosenthal syndrome is autosomal dominant, but a consistent genetic cause has not been found. It is possible that more than one gene is responsible for Melkersson-Rosenthal syndrome, and/or that environmental “triggers” may contribute to causing the syndrome in some genetically predisposed individuals. In some cases, Melkersson-Rosenthal syndrome may be associated with Crohn’s disease or sarcoidosis 2. Melkersson-Rosenthal syndrome is diagnosed based on the symptoms present and medical history, and a biopsy of the lips may be needed to confirm the diagnosis in some cases 3.
Treatment for Melkersson-Rosenthal syndrome aims to relieve symptoms, but the effectiveness of current treatment options has not been well-established 4. Treatment options may include medications to reduce swelling (such as nonsteroidal anti-inflammatory drugs and corticosteroids), antibiotics, immunosuppressants, surgery (to relieve pressure on the facial nerves and reduce swelling), and facial rehabilitation (which may involve physiotherapy and speech-language therapy) 5.
Does Melkersson Rosenthal syndrome develop in childhood?
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 and cracked with a reddish-brown discoloration. The tongue may develop furrows.
Melkersson Rosenthal syndrome causes
The cause of Melkersson-Rosenthal syndrome is unknown. 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.
Melkersson Rosenthal syndrome symptoms
The first symptom of Melkersson-Rosenthal syndrome is usually swelling of the upper lip, lower lip, one or both cheeks, eyelids, or rarely, one side of the scalp. The first episode may resolve in hours or days, but swelling may be more severe and last longer in subsequent episodes and can become permanent. The enlarged lips may appear cracked and discolored and can be painful. Fever, headache and visual disturbances sometimes occur with an episode. A fissured tongue is seen in 20-40% of those affected and may be present since birth. Salivary gland secretion may be reduced and the sense of taste may be diminished. Facial palsy occurs in about 30% of those affected. 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.
Melkersson Rosenthal syndrome diagnosis
Melkersson-Rosenthal syndrome is diagnosed by 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 treatment
Most signs and symptoms of Melkersson-Rosenthal syndrome resolve without treatment but episodes may occur more often and last longer if the condition is not treated. Treatment for Melkersson-Rosenthal syndrome may include corticosteroid injections to reduce swelling, nonsteroidal anti-inflammatory drugs (NSAIDs), antibiotics and immunosuppressants. Surgery and/or radiation are sometimes recommended to relieve pressure on the facial nerves and to reduce abnormally swollen lips, but its effectiveness has not been established. Massage and electrical stimulation may also be prescribed.
Melkersson Rosenthal syndrome prognosis
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.
References- Pei Y, Beaman GM, Mansfield D, Clayton-Smith J, Stewart M, Newman WG. Clinical and genetic heterogeneity in Melkersson-Rosenthal Syndrome. Eur J Med Genet. September 11, 2018 https://doi.org/10.1016/j.ejmg.2018.09.003
- Melkersson-Rosenthal Syndrome Information Page. https://www.ninds.nih.gov/Disorders/All-Disorders/Melkersson-Rosenthal-Syndrome-Information-Page
- Melkersson Rosenthal Syndrome. https://rarediseases.org/rare-diseases/melkersson-rosenthal-syndrome
- Wehl G, Rauchenzauner M. A systematic review of the literature of the three related disease entities cheilitis granulomatosa, orofacial granulomatosis and Melkersson – Rosenthal syndrome. Curr Pediatr Rev. May 14, 2018; [Epub ahead of print]:https://www.ncbi.nlm.nih.gov/pubmed/29766816
- Melkersson-Rosenthal Syndrome. https://www.facialpalsy.org.uk/causesanddiagnoses/melkersson-rosenthal-syndrome
