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At a glance

It is a disorder characterized by recurring facial paralysis associated with cheilitis (chronic swelling of the face), and lingua plicata (“scrotal” tongue). The tongue is often hypertrophic and macroglossic. Granulomatous cheilitis is a chronic swelling of the face and lips, especially the upper lip that is caused by granulomatous inflammation. The onset of the disease begins in childhood or early adolescence. After recurrent attacks that can last days to years in between, the swelling may persist, increase, and eventually become permanent. Miescher cheilitis is the term used when the granulomatous changes are confined to the lip. Miescher cheilitis generally is regarded as a monosymptomatic form of the Melkersson-Rosenthal Syndrome, although the possibility remains that they are separate diseases. It is believed symptomatic of Crohn’s disease and sarcoidosis.

N.B.: The reader should not be confused with Rosenthal Syndrome (hemophilia C) as a result of the clotting factor XI deficiency.

Synonyms

Melkersson Syndrome; Cheilitis Granulomatosis; Orofacial Granulomatosis Syndrome; Miescher-Melkersson-Rosenthal Syndrome.

History

This medical condition was first described in 1931 and named after Ernst Melkersson and Curt Rosenthal. However, there were earlier descriptions of this condition by Lothar von Frankl-Hochwart (1862-1914) in 1891, Paul Hübschmann (1878-) in 1894 and Rossolimo in 1901. It was fully described by Melkersson in 1928 and subsequently by Rosenthal in 1931, the latter emphasized about the association with the hypertrophic lingua plicata, often called a “scrotal tongue” because of its appearance. The Miescher’s cheilitis is considered a variant of the Melkersson-Rosenthal Syndrome when affected individual present only the facial cheilitis. It was described by Guido Miescher (1877-1961), Italian-born Swiss dermatologist, in 1931.

Incidence

The exact incidence remains unknown. There are 400 cases reported in the medical literature worldwide. There seems to be higher prevalence among certain ethnic groups in Bolivia. This medical condition is considered very rare in the general population. No racial or gender predilection. The onset of the disease is late childhood or young adult life.

Genetic inheritance

Autosomal dominant; gene on chromosome 9.

Pathophysiology

Probably of autoimmune origin related to HLA-DR histocompatibility complex. Normal lip architecture eventually is altered by the presence of lymphedema and noncaseating granulomas in the lamina propria.

Diagnosis

Episodic swelling of the face with relapsing peripheral nerve palsy; uveitis is accompanied by granulomas elsewhere. The main differential diagnosis is with sarcoidosis. However, the Kveim test is negative.

Clinical aspects

It is characterized by a triad of symptoms consisting of recurrent facial paralysis, chronic edema of the face and lips (especially upper lip), and macroglossic plicata. The presence of episodic swelling of the face and orofacial granulomatosis is called cheilitis. The eyelids, pharynx, oral mucosa, and larynx may be affected by ...

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