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Table of Contents
Year : 2021  |  Volume : 39  |  Issue : 1  |  Page : 55-56

Melkersson-Rosenthal syndrome in monozygotic twins: A rare entity without genetic elucidation

1 Department of Dermatology, Iuliu Hatieganu University of Medicine and Pharmacy, Cluj-Napoca, Romania
2 Department of Dermatology, Faculty of Medicine, Medical Center-University of Freiburg, Breisgau, Germany

Date of Submission24-Oct-2019
Date of Decision20-Mar-2020
Date of Acceptance07-Aug-2020
Date of Web Publication24-Mar-2021

Correspondence Address:
Dr. Sorina Dănescu
Department of Dermatology, Iuliu Hatieganu University of Medicine and Pharmacy, Victor Babeş 8, Cluj-Napoca
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ds.ds_39_20

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How to cite this article:
Baican C, Dănescu S, Has C, Şomlea M, Candrea E, Baican A. Melkersson-Rosenthal syndrome in monozygotic twins: A rare entity without genetic elucidation. Dermatol Sin 2021;39:55-6

How to cite this URL:
Baican C, Dănescu S, Has C, Şomlea M, Candrea E, Baican A. Melkersson-Rosenthal syndrome in monozygotic twins: A rare entity without genetic elucidation. Dermatol Sin [serial online] 2021 [cited 2023 Feb 6];39:55-6. Available from: https://www.dermsinica.org/text.asp?2021/39/1/55/311816

Dear Editor,

 Melkersson-Rosenthal syndrome More Details (MRS) is a rare disorder characterized by classic triad consisting of recurrent peripheral facial paralysis, swelling of the lips and fissured tongue.[1]

Only 8%–25% of patients present with all three components of the triad, and the orofacial swelling is the most frequent feature. The diagnostic is based on the clinical aspect, and the histopathological finding of typical noncaseating granulomatosis might be helpful.[1] The etiology is not fully elucidated, multiple factors being reported as possible causes: genetic factors, chronic infectious diseases, allergic reactions.[2]

We report two monozygotic twin brothers, 39-year-old, with recurrent peripheral facial paralysis on the left site of the face, associated with fissured tongue and swelling of the lips. Recurrent episodes led to persistently severe edema of the lips, with one lip more prominent than the other. In one brother, the lower prominent lip has been associated with eversion of the labial mucosa. [Figure 1]a,[Figure 1]b,[Figure 1]c The patients gave their permission to be included in the manuscript.
Figure 1: Clinical and histopathological features of patients. (a) Clinical features of the two monozygotic twin brothers; we observe that in one brother the upper lip is more prominent and in the other one, the lower lip is more prominent. (b), (c) Clinical aspect of the fissured tongue in two brothers. (d) The histopathological feature, low magnification: abundant inflammatory lymphocyte infiltration at the interface between epidermis and dermis, marked edema of the stroma with focal sketching of pseudovascular spaces without endothelial cell wall, filled with edema; fibrosis, small histiocytic aggregates, vascular structures with stasis, and a perivascular lymphocytic infiltrates, without granulomas. The aspect described at histology may occur within a granulomatous cheilitis that associates a lichenoid reaction.

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The histologic examination was not specific, showing a lichenoid reaction [Figure 1]d.

A recent report implicated a heterozygous missense variant in SLC27A1 (FATP1) as the cause of this condition in members of an affected Chinese family. Therefore, we performed genetic testing of this gene by polymerase chain reaction and Sanger sequencing; no pathogenic variant was found.

Crohn's disease, sarcoidosis, tuberculosis, tuberculoid leprosy, recurrent angioedema, malignancy, and allergic diseases have been excluded.[3]

The treatment consisted of intralesional corticosteroids injections in repeated cycles, systemic tetracyclines and clindamycin, without reduction of edema. In the case with the prominent lower lip, associated with eversion of the mucosa, reduction cheiloplasty was performed, using the Conway method,[4] preceded and followed by injection of corticosteroids. The evolution was good, with an important improvement of the clinical aspect [Figure 2].
Figure 2: The clinical feature of the lips before (a) and 3 months after surgery (b).

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The esthetic deformity can be very important so, the treatment is necessary. Different nonsurgical variants of treatment exist, including intralesional or systemically corticosteroids, clofazimine, salazosulfapyridine, antihistamines, antibiotics, and irradiation, but the results are unsatisfactory.[5] In cases of persistent and disfiguring lip swelling, without response to different medications, the surgical treatment is essential.

The presence of MRS in monozygotic twins was previously published suggesting that this condition has a hereditary component.[5] The pathogenesis is not well clarified, the disorder having a hereditary disposition to disturbances of the autonomic nervous system, associated with an allergic response to different agents.[4]

Regarding the genetic inheritance, there is an important genetic heterogeneity. Xu et al. reported a heterozygous missense variant in SCL27A1 (c. 68 > G, p.Pro23Arg) in a Chinese family affected by MRS. As in our case, Pei et al. performed a Sanger sequencing of SCL27A1 gene in 14 unrelated individuals of different origin, affected by MRS, and they did not identify pathogenic variants.[1]

In conclusion, the diagnosis of MRS is usually a clinical one. Biopsy can be helpful, but it is not always characteristic. Etiology is not fully elucidated, genetic component plays an important role, but more data are needed. It is important to exclude other diagnoses, in order to establish a precise diagnosis and to initiate the treatment.

Ethical approval

This study was approved by the IRB of University of Medicine and Pharmacy Iuliu Hatieganu Cluj-Napoca, approval no. Nr 181 obtained on May 30th, 2019. The patient consent was waived by the IRB.

Financial support and sponsorship


Conflicts of interest

There are no conflicts of interest.

  References Top

Pei Y, Beaman GM, Mansfield D, Clayton-Smith J, Stewart M, Newman WG. Clinical and genetic heterogeneity in Melkersson-Rosenthal Syndrome. Eur J Med Genet 2019;62:103536.  Back to cited text no. 1
Chiu CS, Tsai YL. Cheilitis granulomatosa associated with allergic contact dermatitis to betel quid. Contact Dermatitis 2008;58:246-7.  Back to cited text no. 2
Elias MK, Mateen FJ, Weiler CR. The Melkersson–Rosenthal syndrome: A retrospective study of biopsied cases. J Neurol 2013;260:138-43.  Back to cited text no. 3
Kruse-Lösler B, Presser D, Metze D, Joos U. Surgical treatment of persistent macrocheilia in patients with Melkersson-Rosenthal syndrome and cheilitis granulomatosa. Arch Dermatol 2005;141:1085-91.  Back to cited text no. 4
Wessels M, Krankenhagen B. Melkersson-Rosenthal-syndrome in monozygotic twins (author's transl). Nervenarzt 1979;50:402-4.  Back to cited text no. 5


  [Figure 1], [Figure 2]


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