Preferred Label : Melkersson-rosenthal syndrome;
CISMeF acronym : MRS;
Type : Phenotype or locus, molecular basis unknown;
Alternative titles and symbols : MRS; Mros; Melkersson syndrome;
Description : 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. *FIELD* RF 1. Caksen, H.; Cesur, Y.; Tombul, T.; Uner, A.; Kirimi,
E.; Tuncer, O.; Odabas, D.: A case of Melkersson-Rosenthal syndrome associated with
Ehlers-Danlos syndrome. Genet. Counsel. 13: 183-186, 2002. 2. Carr, R. D.: Is the
Melkersson-Rosenthal syndrome hereditary? Arch. Derm. 93: 426-427, 1966. 3. Cockerham,
K. P.; Hidayat, A. A.; Cockerham, G. C.; Depper, M. H.; Sorensen, S.; Cytryn, A. S.;
Gavaris, P. T.: Melkersson-Rosenthal syndrome: new clinicopathologic findings in 4
cases. Arch. Ophthal. 118: 227-232, 2000. 4. Kunstadter, R. H.: Melkersson's syndrome:
a case report of multiple recurrences of Bell's palsy and episodic facial edema. Am.
J. Dis. Child. 110: 559-561, 1965. 5. Lygidakis, C.; Tsankanikas, C.; Ilias, A.; Vassilopoulos,
D.: Melkersson-Rosenthal's syndrome in four generations. Clin. Genet. 15: 189-192,
1979. 6. Smeets, E.; Fryns, J. P.; Van den Berghe, H.: Melkersson-Rosenthal syndrome
and de novo autosomal t(9;21)(p11;p11) translocation. Clin. Genet. 45: 323-324, 1994.
*FIELD* CS Autosomal dominant;
Inheritance : Autosomal dominant;
Prefixed ID : %155900;
Origin ID : 155900;
UMLS CUI : C0025235;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- DO Cross reference
- False automatic mappings
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
