Clinical and genetic heterogeneity in Melkersson-Rosenthal Syndrome

Pei, Yang; Beaman, Glenda M.; Mansfield, David; Clayton‐Smith, Jill; Stewart, M. N.; Newman, William G.

doi:10.1016/j.ejmg.2018.09.003

Cited by 9 publications

(12 citation statements)

References 5 publications

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“…It is reported that 29.5% of patients with MRS have a family history of it [17]. A mutation of FATP1 was identified in a family gene test of one MRS patient [18,19]. Therefore, we performed exome sequencing on this patient, and no disease‐related mutations were found.…”

Section: Discussionmentioning

confidence: 94%

A case of Melkersson‐Rosenthal syndrome with endocrine disorders: Extraordinary efficiency of hydroxychloroquine and mechanism hypothesis

Wang

Shi

et al. 2020

Euro J of Neurology

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Background and purpose Melkersson‐Rosenthal syndrome (MRS) is a rare neuro‐mucocutaneous disease. In addition to the traditional clinical triad, there is also a diversity of clinical signs, and it may be related to other systemic diseases. Methods In the present study, we report a case of MRS with endocrine disorders that exhibits extraordinary therapeutic efficiency by using hydroxychloroquine (HCQ), explore whether there is an internal connection between MRS and endocrine disorders, and discuss the mechanism of the therapeutic efficiency of using HCQ. The hypothesis proposed for the first time is that MRS may essentially be a systemic granulomatous disease. Results The physical examination revealed orofacial swelling and fissured tongue. The histopathologic examination showed epithelioid granulomas. Combined with the other examination, this case was diagnosed as incomplete MRS. HCQ and local drugs were introduced. The patient achieved clinical recovery and psychological cure by the 18‐week follow‐up, and the 1‐year follow‐up found no reactivation of MRS. Moreover, the levels of cortisol and adrenocorticotropic were within normal ranges. Conclusions After the drug therapy was targeted at granuloma, not only did all of the symptoms related to MRS disappear, but the endocrine system also returned to normal. It is speculated that the endocrine disorder in this patient may be related to MRS. We further propose the first‐time hypothesis that MRS may essentially be a systemic granulomatous disease. It provides a new medication method with high‐level efficiency.

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Section: Discussionmentioning

confidence: 94%

A case of Melkersson‐Rosenthal syndrome with endocrine disorders: Extraordinary efficiency of hydroxychloroquine and mechanism hypothesis

Wang

Shi

et al. 2020

Euro J of Neurology

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“…This includes cobalt, monosodium glutamate, periodontal infections, tonsillitis, adenoidal hypertrophy, orofacial infections due to herpes type 1, and infections from influenza and mycobacteria [ 1 , 5 , 7 ]. There have been reports of familial occurrences that support a genetic etiology and autosomal dominant mutations in genes such as FATP1 (fatty acid transport protein) [ 9 , 10 ]. The tissue damage from MRS is based on a noncaseating granulomatous inflammation in epithelial cells, Langhans multinucleated giant cells, perivascular lymphocytic infiltrate, and fibrosis [ 11 ].…”

Section: Discussionmentioning

confidence: 99%

Presentation of Bilateral Facial Paralysis in Melkersson–Rosenthal Syndrome

Quintero

Camargo-Camargo

López

et al. 2021

Case Reports in Neurological Medicine

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Introduction. Melkersson–Rosenthal syndrome (MRS) is a neuromucocutaneous disorder characterized by the following classic symptom triad: peripheral facial paralysis, orofacial edema, and scrotal or fissured tongue. It is rare, and since most of the patients are oligo- or monosymptomatic, it makes it difficult to diagnose. Clinical Case. We present a 26-year-old male patient with a history of sickle cell trait, untreated snoring, and left peripheral facial paralysis when he was 11 years old. This was an overall 20-day clinical profile that started with left peripheral facial paralysis, which was accompanied by moderate-intensity occipital pulsatile headaches. Additionally, the patient experienced paresthesias in the tongue and feelings of labial edema. After one week, he manifested peripheral facial paralysis on the right side. Physical examination revealed bilateral peripheral facial paralysis, mild labial edema, and a scrotal or fissured tongue. The patient received corticosteroids, which resulted in improvement of the edema and facial paralysis. Discussion. MRS is a rare disorder that predominantly affects women, typically starting in their 20s or 30s. The etiology is unknown. However, a multifactorial origin that involves environmental factors and a genetic predisposition has been proposed, which causes a dysfunction of the local immune system and autonomic nervous system (ANS) and an appearance of granulomatous inflammation in the lips and tongue. Facial paralysis usually appears later on; however, it can occur from its clinical debut. There are no curative treatments. Therapy is focused on modulating the patient's immune response, and relapses are frequent.

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“…A prospective investigation by Sun and colleagues showed that familial history for recurrent facial palsy was significantly higher in MRS (31.3%) than in Bell’s palsy (6.5%) [43]. However, genetic investigations have not yet identified single causative genes, and there is both clinical and genetic heterogeneity in MRS patients [44].…”

Section: Discussionmentioning

confidence: 99%

Melkersson–Rosenthal Syndrome in Childhood: Report of Three Paediatric Cases and a Review of the Literature

Savasta

Rossi

Foiadelli

et al. 2019

IJERPH

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Melkersson–Rosenthal syndrome (MRS) in children is a rare condition, clinically characterised by a triad of synchronous or metachronous symptoms: recurrent peripheral facial palsy, relapsing orofacial oedema, and a fissured tongue; the most recent review published on the topic has reported 30 published patients. The aetiology of this disease is still unclear. However, genetic factors, as well as alterations in immune functions, infections, and allergic reactions have been postulated. We report three children suffering from MRS and perform a literature review of paediatric cases. Taking into account that clinical and laboratoristical criteria for the diagnosis of MRS are lacking, this syndrome is probably underestimated, and we suggest increasing awareness of such a rare syndrome. Close multidisciplinary follow-up of these children with a team composed by paediatricians, neurologists, neuro-ophthalmologists, dermatologists, and otolaryngologists is crucial to guarantee exhaustive management and treatment success, while minimising relapses.

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Clinical and genetic heterogeneity in Melkersson-Rosenthal Syndrome

Cited by 9 publications

References 5 publications

A case of Melkersson‐Rosenthal syndrome with endocrine disorders: Extraordinary efficiency of hydroxychloroquine and mechanism hypothesis

A case of Melkersson‐Rosenthal syndrome with endocrine disorders: Extraordinary efficiency of hydroxychloroquine and mechanism hypothesis

Presentation of Bilateral Facial Paralysis in Melkersson–Rosenthal Syndrome

Melkersson–Rosenthal Syndrome in Childhood: Report of Three Paediatric Cases and a Review of the Literature

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