|Year : 2021 | Volume
| Issue : 1 | Page : 55-56
Melkersson-Rosenthal syndrome in monozygotic twins: A rare entity without genetic elucidation
Corina Baican1, Sorina Dănescu1, Cristina Has2, Mihaela Şomlea1, Elisabeta Candrea1, Adrian Baican1
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 Submission||24-Oct-2019|
|Date of Decision||20-Mar-2020|
|Date of Acceptance||07-Aug-2020|
|Date of Web Publication||24-Mar-2021|
Dr. Sorina Dănescu
Department of Dermatology, Iuliu Hatieganu University of Medicine and Pharmacy, Victor Babeş 8, Cluj-Napoca
Source of Support: None, Conflict of Interest: None
|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 2022 Jan 23];39:55-6. Available from: https://www.dermsinica.org/text.asp?2021/39/1/55/311816
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.
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. The etiology is not fully elucidated, multiple factors being reported as possible causes: genetic factors, chronic infectious diseases, allergic reactions.
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.
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, 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. 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. 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.
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.
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.
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.
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[Figure 1], [Figure 2]