Melkersson-Rosenthal Syndrome

Melkersson-Rosenthal syndrome is the term used when there is cheilitis (chronic swelling of the face), peripheral facial palsy, and lingua plicata (“scrotal” tongue). Granulomatous cheilitis is a chronic swelling of the lip caused by granulomatous inflammation. 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.

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

Unknown. Condition is rare. No racial or gender predilection. Onset usually is in young adult life.

Autosomal dominant; gene on chromosome 9.

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.

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.

Characterized by episodic swelling of the face and orofacial granulomatosis. The eyelids, pharynx, oral mucosa, and larynx may be affected by granuloma formation. The tongue is said to be “scrotal” in appearance. Recurrent peripheral facial paralysis as a result of involvement of the facial nerve.

History and examination should assess the extent of airway involvement by granulomas.

Even in the presence of a normal upper airway, the possibility of laryngeal and upper tracheal granulomas must be considered. Upper airway and facial swelling may cause considerable problems with face-mask fit and tracheal intubation. Postoperative airway obstruction has been reported.

No specific considerations have been demonstrated.

Iceland Amyloidosis (Amyloiosis Type VI; Cerebral Amyloid Angiopathy Syndrome; Icelandic Cerebroarterial Amyloidosis Syndrome): Autosomal dominant disorder characterized by facial paralysis or swelling around the mouth, which is similar to Melkersson-Rosenthal syndrome. Other clinical features include premature stroke, intracranial hemorrhage, and dementia with an onset during the third or fourth decade of life. Death occurs before age 40 years and most often related to intracerebral hemorrhage. There is evidence that the disorder is caused by mutation in the gene encoding cystatin C in some patients. Cerebral amyloid angiopathy has also been observed with high-density lipoprotein deficiency. The British type of cerebral amyloid angiopathy is caused by mutations in the ITM2B gene.