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Rom J Morphol Embryol 2012, 53(3 Suppl):851853

RJME

CASE REPORT

Romanian Journal of
Morphology & Embryology
http://www.rjme.ro/

Granulomatous cheilitis of Miescher:


the diagnostic proof for a
MelkerssonRosenthal syndrome
ANDREEA LIANA RCHIAN1), A. HRUC1), D. GHEBAN2),
SIMONA CINAP1), T. L. POP1), A. BICAN3), L. FODOR4),
N. MIU1), MARIANA ANDREICA1)
1)
2)
3)
4)

Department of Pediatrics

Department of Pathology

Department of Dermatology

Department of Plastic Surgery

Iuliu Haieganu University of Medicine and Pharmacy, Cluj-Napoca

Abstract

Background: The MelkerssonRosenthal syndrome (MRS) is a very rare clinical entity and its classical form is being characterized by the
following triad: facial nerve palsy, swelling of the lips and fissured tongue. However, the monosymptomatic form is more common and the
typical manifestation is facial edema and/or enlargement of the lips. Case report: We report a case of monosymptomatic MRS with a
positive biopsy of granulomatous cheilitis. Conclusions: In the daily practice as a pediatrician, it is not usual to diagnose a patient as having
MRS. We consider that this is partly because of misdiagnosis. We therefore believe that this case report will supply additional information,
in the scope of recurrent facial paralysis and orofacial edema in both children and adults.
Keywords: granulomatous cheilitis, facial nerve palsy, facial edema, fissured tongue.

Introduction
The MelkerssonRosenthal syndrome is a very rare
clinical entity. Its classical form is being characterized
by the following triad: facial nerve palsy, swelling f
the lips and fissured tongue [1]. However, the monosymptomatic form is more common and the typical
manifestation is facial edema and/or enlargement of the
lips [2].
This syndrome is very rare in childhood, thus there
are only a few cases described in the pediatric age [3].
One or two manifestations in association with
granulomatous cheilitis in the biopsy is sufficient for the
diagnosis of MelkerssonRosenthal syndrome [4].
Patient, Methods and Results
We report a case of a 14-year-old girl presenting with
non-painful swelling of the upper lip. This manifestation
has occurred six months before the presentation in our
department.
At anamnesis, no allergic diseases, trauma or
past/recent injuries were reported. With all this, from
her personal antecedents we discovered a facial palsy at
the age of eight years as s singular manifestation.
The physical examination revealed a non-painful,
non-pruritic swollen upper lip and a scrotal tongue
(Figure 1).
The other physical signs were within normal
appearance for the age. Laboratory values, including
ISSN (print) 12200522

electrolytes, liver function tests, complete blood cell


count, erythrocyte sedimentation rate, total immunoglobulin E, complement (C3, C4), antinuclear antibody
were all within normal limits.

Figure 1 Non-painful, swollen upper lip and scrotal


tongue (before treatment with local corticosteroids).

Furthermore, corroborating all three manifestations


from the past until present we decided to perform a
biopsy of the upper lip mucosa.
The upper lip biopsy specimen showed multiple
discrete, non-necrotizing granulomas composed mostly
of epithelioid cells with rare multinucleated giant cells
and a perivascular lymphocytic infiltration. This histopathological result resembled cheilitis granulomatosa
(Figure 2, AC).
A three-month trial of oral corticotherapy associated
with antihistaminic treatment was ineffective, similar
edema of the upper lip was developed. After that, we
decided to try local injections with triamcinolone with a
spectacular evolution (Figure 3).
ISSN (on-line) 20668279

852

Andreea Liana Rchian et al.

Figure 2 The histopathological findings in cheilitis granulomatosa:


hyperkeratosis, edema, perivascular lymphocytic infiltration and epithelioid
granulomas. HE stain: (A) 50; (B) 100; (C) 50.

Figure 3 After treatment with


local triamcinolone injection.

Discussion
MelkerssonRosenthal syndrome is a rare disorder
that is seen more commonly in Europe than America
[5]. The etiology of MRS remains unknown, although
genetic and/or infectious factors, allergic reactions to
various foods and food additives, and autoimmune
diseases can be involved in the etiology of MRS [6].
Several reports of familial occurrence have supported
the theory of the genetic predisposition [7]. Some authors
have described MRS as a polyetiological disease that
has genetic or acquired predisposition associated to a
functional disturbance of autonomous nervous system,
having as response a granulomatous reaction. However,
this hypothesis has been contradicted in other studies
[8, 9]. It is very hard to correlate MRS to a specific
etiologic factor and it can be classified as autoinflammatory disorder [10].
The diagnosis of MRS is often difficult because the
presence of the complete triad of symptoms is reported
in 8% to 18% of patients [11]. Patients may exhibit all
components of the triad simultaneously or at different
times. In a patient with persistent or recurrent orofacial
edema, the presence of at least one of the findings of
idiopathic facial paralysis or lingua plicata is sufficient
to make definitive diagnosis of MRS [12].
The most dominant manifestation of MRS is facial
edema, which is acute, painless and mostly confined to
the lips. The upper lip seems to be affected more
frequently, and the edema tends to be recurrent and lasts
from hours to several weeks. It usually mimics angioedema; however, it is more persistent than angioedema,
and it does not respond to antihistamines and can lead to
fibrosis of the involved tissues.

Facial paralysis associated with MRS may occur


months to years before or after the onset of facial edema
[13]. Peripheric facial paralysis may be unilateral or
bilateral, and it may be partial or complete. Our patients
presented peripheric facial paralysis six years before the
complete diagnosis.
Lingua plicata has been accepted to be congenital in
30% to 80% of the reported patients [14]. This anomaly
is present in only 0.5% to 5% of the general population,
and it is considered a developmental malformation. Our
patient had fissured tongue, but her family history is not
positive for this sign.
The medical history and the results of the clinical
examination help to direct the investigation. The biopsy
represents an important step in establishing the correct
diagnosis, especially if angioedema is not the first
possibility. The histopathological investigation of the
swollen lip or facial tissues reveal the characteristic
findings, including edema, non-caseating epitheloid cell
granulomas, multinucleated Langhans-type giant cells,
perivascular mononuclear inflammatory infiltration, and
fibrosis [15].
MRS is basically a clinical syndrome, histological
evidence may not be compulsory [16]. However, biopsy
may help to diagnose MRS and to exclude Crohn
disease and sarcoidosis. In the differential diagnosis
of MRS, Crohn disease, sarcoidosis, granulomatous
blepharitis, cheilitis, contact dermatitis, facial trauma,
and Bell palsy should be considered [1719]. All of
these conditions must be taken into account during the
investigation of a patient with persistent lip swelling.
The treatment of cheilitis granulomatosa (CG) in
MelkerssonRosenthal syndrome (MRS) remains a
challenge because of the unclear etiopathogenesis.
Various therapeutic methods have been described [20].
The modality of treatment in MRS is an issue of
controversy. Corticosteroids are widely used; some
authors recommend systemic corticosteroids in CG
therapy, while others did not observe success with
systemic methylprednisolone therapy [21]. Authors
observed long-term remission after three-intralesional
administration of triamcinolone. The presented case
enlarged our knowledge about this rare condition yet it
is still unclear what the effect of the treatment depends
on. Authors propose monotherapy with triamcinolone as
sufficient in CG, but there are also described cases
treated this way without success [22].

Granulomatous cheilitis of Miescher: the diagnostic proof for a MelkerssonRosenthal syndrome

Conclusions
When MRS is diagnosed, we recommend pluridisciplinary consultations and management to rule out
other diseases with similar symptoms and to figure out
accompanying problems. All patients should be followed
up regularly because of the chronic progressive course
of MRS. In our opinion, intralesional triamcinolone is
sufficient and efficient in the treatment of CG, and
should be considered as the first-line therapy. However,
clinical course and therapeutic response of MRS is
unpredictable. It is probably connected with a type of
pathogenetic background. Certainly, further investigations are required.
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Corresponding author
Andreea Rchian, Teaching Assistant, MD, Department of Pediatrics II, Iuliu Haieganu University of Medicine
and Pharmacy, 3 Crian Street, 400177 Cluj-Napoca, Romania; Phone +40752563 014, e-mail: andreea_
rachisan@yahoo.com

Received: August 10th, 2012


Accepted: November 6th, 2012

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