Melkersson Rosenthal Syndrome
Discussion
Early
descriptions of this conditon were made by
Rossolimo in 1901 and Paul Hübschmann (1878-) in 1894 and Lothar von
Frankl-Hochwart (1862-1914) in 1891. It was described by Melkersson in
1928;
Rosenthal in 1931 emphasised that lingua plicata is a common related
condition.
Synonums:
- MROS
- Melkersson
Syndrome
- MRS
Genetic:
MELKERSSON
SYNDROME Gene map locus 9p11
*Note:
Actual cause of MRS is unknown
Symptoms:
- Facial
Swelling
- Lip Swelling
- Partial
facial paralysis
- Tongue
abornmalities
- Tongue folds
- Tongue
furrows
- Episodes of
facial paralysis
- Episodes of
facial edema
- Episodes of
swollen lip
- Episodes of
swollen cheeks
- Episodes of
swollen chin
- Episodes of
swollen tongue
- Scrota
tongue (1)
- Lymphedema
(lymphatic dysplasia)
Treatment:
Treatment is
symptomatic and may include surgery
to relieve pressure on the facial nerves and to reduce swollen tissue.
Drug
therapy, including steroids, may also reduce swelling. Massage and
electrical
stimulation may also be prescribed.
Pat
O'Connor
June 7, 2008
-----------------------------------------
Melkersson-Rosenthal Syndrome
What is
Melkersson-Rosenthal
Syndrome?
Is there any treatment?
What is the prognosis?
What research is
being done?
Organizations
What is
Melkersson-Rosenthal
Syndrome?
Melkersson-Rosenthal syndrome is a rare neurological disorder
characterized by
recurring facial paralysis, swelling of the face and lips (usually the
upper
lip), and the development of folds and furrows in the tongue. 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, cracked, and fissured with a
reddish-brown
discoloration. The cause of Melkersson-Rosenthal syndrome is unknown,
but there
may be a genetic predisposition. It can be symptomatic of Crohn’s
disease or
sarcoidosis.
Is there any treatment?
Treatment is symptomatic and may include medication therapies with
nonsteroidal
anti-inflammatory drugs (NSAIDs) and corticosteroids to reduce
swelling, as well
as antibiotics and immunosuppressants. Surgery may be recommended to
relieve
pressure on the facial nerves and to reduce swollen tissue, but its
effectiveness has not been established. Massage and electrical
stimulation may
also be prescribed.
What is the 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.
What research is being done?
The NINDS supports research on neurological disorders such as
Melkersson-Rosenthal
syndrome. Much of this research is aimed at increasing knowledge of
these
disorders and finding ways to treat, prevent, and ultimately cure them.
Select
this link to view a list of all studies
currently seeking patients.
Organizations
National Organization for Rare Disorders (NORD)
P.O. Box 1968
(55 Kenosia Avenue)
Danbury, CT 06813-1968
orphan@rarediseases.org
http://www.rarediseases.org
Tel: 203-744-0100 Voice Mail 800-999-NORD (6673)
Fax: 203-798-2291
NINDS health-related
material is provided for information purposes only and does not
necessarily
represent endorsement by or an official position of the National
Institute of
Neurological Disorders and Stroke or any other Federal agency. Advice
on the
treatment or care of an individual patient should be obtained through
consultation with a physician who has examined that patient or is
familiar with
that patient's medical history.
All
NINDS-prepared information is in the public domain and may be freely
copied. Credit to the NINDS or the NIH is appreciated.
National
Institutes of Health
...........................
Melkersson-Rosenthal Syndrome
Background
The
Melkersson-Rosenthal Syndrome (MRS) is a rare syndrome involving the
head and neck. MRS is characterized by a triad of findings:
Chronic
orofacial swelling predominately involving the lips
Relapsing peripheral facial nerve paralysis
Furrowed dorsum of the tounge (lingua plicata)
However,
there are variants where only 1 or 2 features are present. The most
frequent is Granulomatous cheilitis of Miescher (GC). The complete
triad is only present in about 25% of cases. The orofacial edema is the
dominant finding and may be the presenting sign in 42% of cases
OUTLINE
DISEASE
ASSOCIATIONS |
CHARACTERIZATION |
CROHN'S DISEASE |
|
Cheilitis
granulomatosa and optic neuropathy as rare extraintestinal
manifestations of Crohn's disease.
van
de Scheur MR, van der Waal RI, van Bodegraven AA, Volker-Dieben HJ,
Starink TM, van der Waal I.
Department
of Dermatology, University Hospital Vrije Universiteit/ACTA, P.O. Box
7057, 1007 MB Amsterdam, The Netherlands.
|
J Clin Gastroenterol 2002
May-Jun;34(5):557-9 Abstract quote
Crohn's
disease can be accompanied by extraintestinal manifestations. The
authors report on a 39-year-old patient who presented with cheilitis
granulomatosa as the first manifestation of Crohn's disease. Four years
later, intestinal Crohn's disease was diagnosed.
One
year afterward, acute loss of visual acuity from optic neuropathy
developed as another rare extraintestinal manifestation of Crohn's
disease.
|
DIABETES MELLITUS |
|
Melkersson-Rosenthal syndrome in a diabetic boy.
Ruza
Paz-Curbera E, Fernandez Benitez M.
Department
of Pediatrics, University of Clinic of Navarra, Faculty of Medicine,
Pamplona, Spain.
|
Allergol
Immunopathol (Madr) 1998 Nov-Dec;26(6):291-3 Abstract quote
The Melkersson-Rosenthal syndrome (MRS) consists of
recurrent edema of the lips, intermittent facial palsy and furrowed
tongue. This is the classic triad which defines the syndrome, although
it is accepted that the presence of two manifestations or one with a
granulomatous cheilitis in the biopsy, are sufficient to make the
diagnosis.
The case of a 15 year-old diabetic boy is
presented. He had a persistent edema of the upper lip of one-year
duration, which started abruptly without any clear etiologic
correlation. He was treated with antihistaminics and corticosteroids
without improvement but with diabetic imbalance. The complementary
examinations were normal and the biopsy was compatible with
granulomatous cheilitis.
Despite the low incidence and the fact that there
is no specific treatment, MRS has to be considered as a diagnostic
possibility in a patient with recurrent edema although not necessarily
having the complete triad.
|
EHLERS-DANLOS SYNDROME |
|
A
case of Melkersson-Rosenthal syndrome associated with Ehlers-Danlos
syndrome.
Caksen
H, Cesur Y, Tombul T, Uner A, Kirimi E, Tuncer O, Odabas D.
Department
of Pediatrics, Yuzuncu Yil University, Faculty of Medicine, Van, Turkey.
|
Genet Couns 2002;13(2):183-6
Abstract quote
Melkersson-Rosenthal
syndrome (MRS) is characterized by the triad of recurrent facial palsy,
lingua plicata, and facial edema. Herein, we report a case of MRS
associated with Ehlers-Danlos syndrome due to rare presentation.
To the
best of our knowledge only one case of MRS associated with
Ehlers-Danlos syndrome has been reported in the literature until now.
|
FOOD INTOLERANCE |
|
Food or food additive
intolerance |
Clin Allergy 1986;16:331-338
Cinnamaldehyde
Carnosine
Monosodium glutamate
Cocoa
Carbone
Sunset yellow |
ROSACEA |
|
Association
of Melkersson-Rosenthal syndrome with rosacea.
Bose
SK.
Indraprastha
Apollo Hospitals, New Delhi, India
|
Dermatol 1996 Dec;23(12):902-4
Abstract quote
A rare
case of Melkersson-Rosenthal syndrome with all the cardinal signs of
the triad, including facial swelling, facial nerve palsy and glossitis,
is described.
The
additional feature of this case was an association with rosacea.
|
PATHOGENESIS |
CHARACTERIZATION |
BORRELIA BURGDORFERI |
|
Granulomatous cheilitis and Borrelia burgdorferi: polymerase chain
reaction and serologic studies in a retrospective case series of 12
patients.
Muellegger
RR, Weger W, Zoechling N, Kaddu S, Soyer HP, El Shabrawi-Caelen L, Kerl
H.
Department
of Dermatology, Karl-Franzens University School of Medicine,
Auenbruggerplatz 8, A-8036 Graz, Austria.
|
Arch Dermatol 2000 Dec;136(12):1502-6 Abstract quote
BACKGROUND:
Granulomatous cheilitis (GC) is a chronic granulomatous inflammation of
the lips of unknown etiology, which may be associated with peripheral
facial nerve paralysis and/or lingua plicata (Melkersson-Rosenthal
syndrome [MRS]). Borrelia burgdorferi is a spirochete that causes Lyme
borreliosis, a multisystemic infectious disease with frequent
occurrence of facial nerve paralysis. An etiologic role of B
burgdorferi in various granulomatous diseases has been suggested. The
present study was performed to examine a possible causative role of B
burgdorferi for GC/MRS by B burgdorferi-specific polymerase chain
reaction analysis of biopsy specimens from affected lip tissue and
determination of B burgdorferi IgG and IgM serum antibodies using
enzyme-linked immunosorbent assay and immunoblot tests.
OBSERVATIONS:
We examined a retrospective case series of 12 patients with GC/MRS from
a Lyme borreliosis endemic area (median duration of disease, 8 months
[range, 3-348 months]). Borrelia burgdorferi-specific DNA could not be
amplified by polymerase chain reaction in any of the 12 patients. One
(13%) of 8 patients tested had a serum B burgdorferi IgG response on
enzyme-linked immunosorbent assay, and 2 patients (25%) had an IgM
response, but immunoblot testing yielded negative results in all 8
patients.
CONCLUSION:
The results of the present study do not indicate that B burgdorferi has
an etiologic role in GC/MRS.
|
Odontogenic infections |
Oral Surg Oral Med Oral Pathol
1982;54:404-413
Elimination of infections relieved the swelling in 11/16 patients |
CHROMOSOMAL ABNORMALITIES |
|
Melkersson-Rosenthal
syndrome and de novo autosomal t(9;21)(p11;p11) translocation.
Smeets
E, Fryns JP, Van den Berghe H.
Centre
for Human Genetics, University of Leuven, Belgium.
|
Clin Genet 1994 Jun;45(6):323-4 Abstract quote
In
this report we describe a 26-year-old female with the typical clinical
symptoms and signs of Melkersson-Rosenthal syndrome, an autosomal
dominant with variable expression, and a de novo t(9;21)(p11;p11), and
suggest that the "Melkersson-Rosenthal gene" is located at 9p11.
|
MYCOBACTERIAL STRESS PROTEIN |
|
Antibodies to mycobacterial stress protein in patients with orofacial
granulomatosis.
Ivanyi
L, Kirby A, Zakrzewska JM.
Department
of Oral Immunology, Institute of Dental Surgery, London, England.
|
J Oral Pathol Med 1993 Aug;22(7):320-2 Abstract
quote
Immunoglobulin
G antibody titers to the mycobacterial stress protein with molecular
weight of 65 kDa (mSP65) were determined by ELISA in sera from 10
patients with orofacial granulomatosis (OFG). Four patients with
confirmed Crohn's disease had serum antibodies to mSP65 with titers
ranging from 400-950.
Of six
remaining patients, three patients had serum antibodies to mSP65, with
titers ranging from 180-850, whilst no serum antibody to this antigen
could be detected in 3 patients. However, other laboratory
investigations failed to show any consistent pattern of disturbance in
the 10 tested.
Thus,
the presence of serum antibody to mycobacterial 65 kDa stress protein
might prove to be of a diagnostic value for Crohn's disease.
|
GROSS
APPEARANCE/CLINICAL VARIANTS |
CHARACTERIZATION |
VARIANTS |
|
CHILDHOOD |
|
Melkersson-Rosenthal
syndrome in childhood: a challenge in differential diagnosis and
treatment.
Ziem
PE, Pfrommer C, Goerdt S, Orfanos CE, Blume-Peytavi U.
Department
of Dermatology, University Medical Center Benjamin Franklin, The Free
University of Berlin, H. Fabecstr. 60-62, 14195 Berlin, Germany.
|
Br J Dermatol 2000 Oct;143(4):860-3 Abstract quote
Facial
palsy and orofacial swelling in childhood represent a challenge in
differential diagnosis for paediatricians and dermatologists. One
possible entity, Melkersson-Rosenthal syndrome (MRS), is a rarity in
childhood.
We
describe a 9-year-old girl with the diagnosis of MRS who had episodic
swelling of the upper lip and complete peripheral facial palsy,
associated with herpes and recurrent bacterial infections. Therapeutic
options for MRS in childhood are limited. Our patient benefited from a
2-month course of prednisolone 1 mg kg(-1) daily.
We
review previously published cases of MRS in childhood, and discuss the
differential diagnosis of orofacial swelling and facial palsy as well
as treatment options in children.
|
GRANULOMATOUS CHEILTIS OF
MIESCHER |
Painless
chronic isolated enlargement of one or both lips due to granulomatous
inflammation with a recurrent to gradually persistent course
Young
adults
Considered a monosymptomatic form of MRS
|
Cheilitis granulomatosa: overview of 13 patients with long-term
follow-up--results of management.
van der Waal RI, Schulten EA,
van der Meij EH, van de Scheur MR, Starink TM, van der Waal I.
Department of Dermatology,
University Hospital Vrije Universiteit/ACTA, PO Box 7057, 1007 MB
Amsterdam, the Netherlands.
|
Int J Dermatol 2002 Apr;41(4):225-9 Abstract quote
BACKGROUND:
Cheilitis granulomatosa, often regarded as a subtype of orofacial
granulomatosis, is characterized by recurrent or persistent swelling of
one or both lips. Classically, a non-necrotizing granulomatous
inflammation is seen at histologic examination. Although a relationship
has been proposed between Melkersson-Rosenthal syndrome (and the
monosymptomatic form, cheilitis granulomatosa) and Crohn's disease on
the basis of the orofacial swelling and similar histology, several
studies of Melkersson-Rosenthal syndrome have not found an association
with Crohn's disease.
METHODS:
The clinical features, histopathology, association with Crohn's
disease, and results of nonsurgical and surgical therapy in 13 patients
with cheilitis granulomatosa were investigated in a retrospective case
study with a mean follow-up period of 8.2 years.
RESULTS:
There was a low chance of developing Crohn's disease. Most patients in
this study responded to nonsurgical treatment modalities. Patients with
deterioration of lip swelling usually responded to intralesional
injections with triamcinolone or to short courses of systemic
glucocorticoids. Nonsteroidal systemic modalities, such as clofazimine,
hydroxychloroquine, or sulfasalazine, were alternatives to
glucocorticoid regimens, thus avoiding the long-term side effects of
corticosteroids. Surgical intervention should only be performed in
severely disfiguring cases.
CONCLUSIONS:
The management of cheilitis granulomatosa remains a challenge. As this
study revealed a low chance of developing Crohn's disease, it does not
seem justified to inform patients with cheilitis granulomatosa of the
possibility that they might develop Crohn's disease. Patients with a
negative history of gastrointestinal complaints should not be exposed
to routine investigations of the gastrointestinal tract.
|
OROFACIAL GRANULOMATOSIS |
J Am Acad Dermatol
1990;23:444-450
Oral lesions resembling those of in patients with Crohn's disease but
with no evidence of intestinal abnormalities |
VULVITIS GRANULOMATOSA |
|
Vulvitis
granulomatosa: a cryptogenic chronic inflammatory hypertrophy of vulvar
labia related to cheilitis granulomatosa and Crohn's disease.
Guerrieri
C, Ohlsson E, Ryden G, Westermark P.
Department
of Pathology, University Hospital, Linkoping, Sweden
|
Int J Gynecol Pathol 1995 Oct;14(4):352-9 Abstract
quote
We
report the cases of two patients with vulvitis granulomatosa, a chronic
inflammatory hypertrophy of the vulvar labia thought to represent the
vulvar variant of cheilitis granulomatosa.
One of
the women later experienced recurring cheilitis granulomatosa, while
the other developed intestinal Crohn's disease 6 years later.
The
interrelationships of vulvitis granulomatosa, cheilitis granulomatosa,
and Crohn's disease are discussed.
|
HISTOLOGICAL
TYPES |
CHARACTERIZATION |
General |
|
VARIANTS |
|
Granulomatous cheilitis |
Small
noncaseating epithelioid granulomas, sometimes with multinucleated
cells of the Langhans type
Sparsely scattered throughout the edematous connective tissue
Surrounding
perivascular and interstitial infiltrates of lymphocytes, plasma cells,
and histiocytes
|
TREATMENT |
CHARACTERIZATION |
CLOFAZIMINE |
|
Cheilitis
granulomatosa Miescher: treatment with clofazimine and review of the
literature.
Ridder
GJ, Fradis M, Lohle E.
Department
of Otorhinolaryngology-Head and Neck Surgery, University Hospital
Freiburg, Germany
|
Ann Otol Rhinol Laryngol 2001
Oct;110(10):964-7 Abstract quote
Cheilitis
granulomatosa Miescher is a rare condition of unknown cause
characterized by intermittent lip swelling that gradually persists and
causes cosmetic deformity.
We
report the case of a young woman with cheilitis granulomatosa as a
monosymptomatic manifestation of Melkersson-Rosenthal syndrome
successfully treated by the antileprosy agent clofazimine, and propose
clofazimine as an alternative treatment in cases refractory to
corticosteroids.
The
differential diagnosis and current methods of treatment are summarized,
and the literature is reviewed and discussed.
|
CORTICOSTEROIDS |
|
Treatment
of Miescher's cheilitis granulomatosa in Melkersson-Rosenthal syndrome.
Camacho
F, Garcia-Bravo B, Carrizosa A.
Department
of Medical-Surgical Dermatology and Venereology, Faculty of Medicine,
University Hospital Virgen Macarena, Sevilla, Spain.
|
J Eur Acad Dermatol Venereol
2001 Nov;15(6):546-9 Abstract quote
Cheilitis
granulomatosa is the most frequent dermatological sign in the
Melkersson-Rosenthal syndrome.
We
reviewed 27 cases of this syndrome diagnosed and treated in the last 20
years. All the patients were surgically treated and received
intralesional corticosteroids during surgery and tetracycline
hydrochloride (500 mg, twice daily) after the operation to prevent
recurrence.
|
Melkersson-Rosenthal
syndrome in childhood: successful management with combination steroid
and minocycline therapy.
Stein
SL, Mancini AJ.
Department
of Dermatology, Northwestern University Medical School, Children's
Memorial Hospital, Chicago, Illinois, USA.
|
J Am Acad Dermatol 1999
Nov;41(5 Pt 1):746-8 Abstract quote
The
Melkersson-Rosenthal syndrome consists of a triad of recurrent lip
and/or face swelling, fissured tongue, and intermittent facial palsy.
Onset of the symptoms may occur during childhood, and treatment of the
condition is difficult.
We
describe two children with Melkersson-Rosenthal syndrome in whom
combination treatment with prednisone and minocycline proved effective
and well tolerated.
|
SURGERY |
|
Lip
reduction cheiloplasty for Miescher's granulomatous macrocheilitis
(Cheilitis granulomatosa) in childhood.
Oliver
DW, Scott MJ.
Department
of Plastic and Reconstructive Surgery, Stoke Mandeville Hospital,
Mandeville Road, Aylesbury, HP21 8AL, UK.
|
Clin Exp Dermatol 2002
Mar;27(2):129-31 Abstract quote
Miescher's
granulomatous macrocheilitis (cheilitis granulomatosa) is a mono-
symptomatic presentation of Melkersson-Rosenthal Syndrome which is
characterized by granulomatous swelling of the lips, and can affect
both children and adults.
We
report the successful outcome following lip reduction surgery on an
11-year-old boy. We suggest that surgery may have a role in the
management of those patients who have failed to respond to medical
treatment.
|
Long-term results after surgical reduction cheiloplasty in patients
with Melkersson-Rosenthal syndrome and cheilitis granulomatosa.
Ellitsgaard
N, Andersson AP, Worsaae N, Medgyesi S.
Department
of Plastic and Reconstructive Surgery, University Hospital
(Rigshospitalet), Copenhagen, Denmark.
|
Ann Plast Surg 1993
Nov;31(5):413-20 Abstract quote
Cheilitis
granulomatosa in patients with Melkersson-Rosenthal syndrome has proven
difficult to treat, and various forms of symptomatic treatment of
orofacial swellings have been used with varying success.
To
evaluate long-term results after surgical reduction cheiloplasty in
patients suffering from persistent lip swellings, a follow-up study was
performed on 13 patients after 16 years (median). The operations were
performed after unsuccessful conservative treatment and regardless of
disease activity. Pre- and postoperative medical histories were updated
and a clinical examination evaluated the following criteria for a good
result: symmetry of the lip, a normalized anterior projection,
dimensional harmony between upper and lower lip, no disfiguring
cicatrices, and no sensory disturbances. In spite of postoperative
disease activity in 6 patients, all 13 patients were satisfied with the
long-term result. Clinically, the results in 12 patients were
considered good.
We
therefore recommend lip resection as described when a stationary
swelling becomes associated with permanent aesthetic deformity or
functional disturbances and conservative measures are unsuccessful.
|
THALIDOMIDE |
|
Therapeutic response to thalidomide in Melkersson-Rosenthal syndrome: a
case report.
Medeiros
M Jr, Araujo MI, Guimaraes NS, Freitas LA, Silva TM, Carvalho EM.
Immunology
Service, Hospital Universitario Federal University of Bahia, Salvador,
Brazil.
|
Ann Allergy Asthma Immunol 2002
Apr;88(4):421-4 Abstract quote
BACKGROUND:
Melkersson-Rosenthal syndrome (MRS) is a rare disorder of unknown
etiology characterized by a triad of symptoms: recurrent orofacial
swelling, relapsing facial palsy. and a fissured tongue. A differential
diagnosis must be made with other granulomatous diseases, such as
sarcoidosis and oral Crohn disease; however, the histologic findings of
noncaseating, sarcoidal granulomas support the diagnosis of MRS.
RESULTS:
Many therapeutic modalities have been described for this disease. In
this case report, we present a patient with MRS that was treated with
thalidomide because of the identification of tumor necrosis factor a in
the lesion by immunohistochemical analysis. This is the first reported
detection of tumor necrosis factor a in an MRS lesion, as well the
first reported use of thalidomide to treat this clinical condition.
|
J Am Acad
Dermatol 1989;21:1263-1270
Oral Surg Oral Med Oral Pathol 1992;74:610-619.
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---------------------------
Alternative
titles; symbols
MROS; MRS
MELKERSSON SYNDROMEGene map locus 9p11
TEXT
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.'
See amyloidosis V (105120)
for a disorder with many similarities.
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.
REFERENCES
- 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.
PubMed ID : 5862634
- 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.
PubMed ID : 10676788
- 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.
PubMed ID : 5846695
- 5.
Lygidakis, C.; Tsankanikas, C.; Ilias, A.; Vassilopoulos, D. :
- Melkersson-Rosenthal's
syndrome in four generations. Clin. Genet. 15:
189-192, 1979.
PubMed ID : 761419
- 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.
PubMed ID : 7923865
CONTRIBUTORS
Victor A.
McKusick - updated : 8/23/2002
Jane Kelly - updated : 5/23/2000
CREATION
DATE
Victor A.
McKusick : 6/2/1986
EDIT
HISTORY
mgross :
3/17/2004
http://omim.org/entry/155900
---------------------------
Isolated eyelid edema in Melkersson-Rosenthal syndrome: a case series.
Source
Department
of Ophthalmology and Visual Sciences, QEII Health Sciences Centre,
Dalhousie University, Halifax, Nova Scotia, Canada.
Abstract
PurposeTo report the clinicopathologic features of a series of patients with Melkersson-Rosenthal syndrome(MRS).MethodsPatients
in this clinicopathological case series were identified through
retrospective review. Five Caucasian patients (2 women and 3 men; age
range, 46 to 73 years) with isolated eyelid swelling presented over an
11-month period to two Canadian tertiary Oculoplastic referral centres.
All underwent clinical examination and had tissue biopsies.ResultsThe
patients presented with non-pitting, non-pruritic, painless and
recurrent eyelid swelling. None had evidence of cranial nerve palsy or
fissured tongue. The duration of symptoms before referral was between
1-5 years. Histopathological examination showed granulomatous
inflammation in four patients. Granulomatous folliculitis was a novel
finding in three patients.ConclusionsMonosymptomatic patients with MRS
require a high index of suspicion. Histopathological confirmation is
vital for the diagnosis.Eye advance online publication, 4 November
2011; doi:10.1038/eye.2011.285.
http://www.nature.com/eye/journal/vaop/ncurrent/full/eye2011285a.html
---------------------------
Intralymphatic granulomas as a pathogenic factor in cheilitis granulomatosa/Melkersson-Rosenthal syndrome: report of a case with immunohistochemical and molecular studies.
Aug 2011
Source
Departments of Pathology, Ramón y Cajal Hospital, University of Alcalá, Madrid, Spain.
Abstract
Orofacial granulomatosis, an uncommon immunologically mediated disorder, includes cheilitis granulomatosa andMelkersson-Rosenthal syndrome.
It is clinically characterized by recurrent or persistent swelling of
the orofacial tissues with a spectrum of other orofacial features and
sometimes with neurological symptoms. The pathological findings are
varied but are often characterized by the presence of noncaseating
granuloma. We present a new case of orofacial granulomatosis with
unusual histopathological findings, namely, intralymphatic granulomas.
These may be the cause of the tissue edema. We demonstrated, by
immunohistochemical studies, the lymphatic nature of the vessels
affected by the granulomatous process.
http://journals.lww.com/amjdermatopathology/pages/articleviewer.aspx?year=2011&issue=08000&article=00008&type=abstract
===========================
References
...........................
Wrong
Diagnosis (1)
===========================
External
Links
Melkersson-Rosenthal syndrome: lymphoscintigraphy-documented impairment and restoration of facial lymphatic drainage in the course of disease.
http://www.ncbi.nlm.nih.gov/pubmed/20552818Melkersson-Rosenthal syndrome associated with Down syndrome. July 2010
http://www.ncbi.nlm.nih.gov/pubmed/20707255Marathon of eponyms: 13 Melkersson-Rosenthal syndrome. Oct 2010
http://onlinelibrary.wiley.com/doi/10.1111/j.1601-0825.2009.01545.x/abstract?systemMessage=Wiley+Online+Library+will+be+disrupted+3+Dec+from+
Melkersson-Rosenthal syndrome: an unusual cause of intermittent raised hemidiaphragm? May 2011
http://www.jtcvsonline.org/article/S0022-5223(11)00038-9/abstractMelkersson-Rosenthal syndrome presenting with isolated bilateral eyelid swelling: a clinicopathologic correlation. June 2011
http://www.sciencedirect.com/science/article/pii/S0008418211000081Compression therapy: an adjuvant treatment for orofacial granulomatosis in Melkersson-Rosenthal syndrome? Aug 2011
A case of leprosy with multiple cranial neuropathy mimicking Melkerson Rosenthalsyndrome. April 2011
http://www.ncbi.nlm.nih.gov/pubmed/21972663
..........................
Melkersson-Rosenthal Syndrome
http://www.emedicine.com/derm/topic72.htm
............
Melkersson-Rosenthal Syndrome
http://www.thedoctorsdoctor.com/diseases/melkersson-rosenthal.htm
............
Melkersson-Rosenthal
Syndrome and Acquired C1
Inhibitor Deficiency - May 2008
Karger
............
Melkersson-Rosenthal
syndrome - Feb 2008
PubMed
............
Melkersson
Rosenthal syndrome associated with
ipsilateral facial, hand, and foot swelling - Jan
2008
Open
Access - Dermatology Online Journal
............
Melkersson-Rosenthal
syndrome with isolated
immunoglobulin E hypogammaglobulinaemia. - Nov/Dec 2007
IngentaConnect
............
Melkersson-Rosenthal
syndrome: a form of
pseudoangioedema - Aug 2007
PubMed
............
Cheilitis
granulomatosa and Melkersson-Rosenthal
syndrome: evaluation of gastrointestinal involvement and therapeutic
regimens in
a series of 14 patients. - Sept 2007
Blackwell
Synergy
===========================
Classification
and Codes
...........................
ICD-10
G51.2 |
|
Melkersson's syndrome |
|
|
Melkersson-Rosenthal syndrome |
ICD-9
2008 ICD-9-CM
Diagnosis 351.8
-
Other
facial nerve disorders
- An
idiopathic syndrome characterized by one or more of the following;
recurrent orofacial swelling, relapsing facial paralysis, and fissured
tongue (lingua plicata). The onset is usually in childhood and relapses
are common. Cheilitis granulomatosa is a monosymptomatic variant of
this condition. (Dermatol Clin 1996 Apr;14(2):371-9; Magalini &
Magalini, Dictionary of Medical Syndromes, 4th ed, p531)
- 351.8
is a specific code that can be used to specify a diagnosis
- 351.8
contains 20 index entries
- View
the ICD-9-CM Volume 1 351.*
hierarchy
351.8
also known as:
- Facial
myokymia
- Melkersson's
syndrome
OMIM
155900
Mesh
D008556
DiseasesDB
31963
===========================
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