Melkersson-Rosenthal Syndrome

The features are chronic swelling of the face, peripheral facial palsy that tends to relapse and may be bilateral, and in some cases lingua plicata ('scrotal' tongue). The disease often begins in childhood or youth. The swelling is localized especially to the lips. Kunstadter (1965) described a case with onset at 5.5 years of age. The maternal grandmother developed unilateral Bell palsy without facial edema at age 68. A maternal aunt developed unilateral Bell palsy with questionable edema at 10 years of age and recovered completely. Carr (1966) found at least 4 other reported families in which 2 generations were affected and 1 instance of 3 generations affected. In a Greek kindred, Lygidakis et al. (1979) observed 7 cases in 5 sibships of 4 generations, with 1 instance of male-to-male transmission and 1 instance of 'skipped generation.'

Smeets et al. (1994) described a 26-year-old female with typical clinical features of Melkersson-Rosenthal syndrome and a de novo t(9;21)(p11;p11) translocation, and suggested that the gene is located at 9p11. The patient's mother had normal chromosomes. The patient developed episodes of recurrent and transient swelling of the upper lip in late adolescence. The swelling gradually became persistent and more manifest, also involving the lower lip. Her tongue had been of the scrotal type since childhood. There had been no facial palsy, although she complained of loss of taste in the anterior part of the tongue. On physical examination, discrete swelling of her chin and eyelids was also noted.

Cockerham et al. (2000) reviewed the clinicopathologic features of eyelid involvement in Melkersson-Rosenthal syndrome. The 3 men and 1 woman studied ranged in age from 33 to 74 years. Each had insidious, painless, nonpitting eyelid edema: 3 had unilateral edema; 1 had bilateral, asymmetric involvement. Ipsilateral lip edema was present in 1 case. Computed tomography aided in the diagnosis. Histopathology of each eyelid biopsy in this study revealed granulomatous lymphangitis unique to Melkersson-Rosenthal syndrome. The authors recommended biopsy of all cases of unexplained nonpitting eyelid edema.

Caksen et al. (2002) described Melkersson-Rosenthal syndrome in association with Ehlers-Danlos syndrome and found 1 previously reported instance of the association.