The goal of this work is to report five cases of Melkersson-Rosenthal syndrom with a literature review. It is a rare entity and is characterized in its complete presentation, by the association of reccurent orofacial swelling, peripheral facial palsy and plicated tongue. Incomplete forms are more frequent and more difficult to establish its diagnosis. This latter is based on major and minor clinical and histological critieria sorted in three levels. There is four forms of MRS. The pathogenesis of this syndrome is still unknown; treatment remains random. It is based on topical or systemic steroids with or without cheiloplastic procedure. We must think of MRS in presence of any recurrent peripheral facial palsy and/or chronic facial swelling.

Unilateral anterior uveitis in Melkersson-Rosenthal syndrome: a case report.J Int Med Res. 2006 Jul-Aug;34(4):428-32

Melkersson-Rosenthal syndrome (MRS) is an uncommon granulomatous condition characterized by persistent or recurrent orofacial oedema, relapsing facial paralysis and fissured tongue. We report here a case of MRS with the classical triad of signs accompanied by unilateral anterior uveitis. A 35-year-old man with a fissured tongue, recurrent facial palsy and orofacial oedema presented with a 3-month history of conjunctival redness and decreased vision in the right eye. On evaluation of visual acuity, the patient was only able to count fingers. Slit lamp examination revealed severe conjunctival injection, cells and flare, posterior synechiae and keratic precipitates. Examination of the left eye revealed no evidence of inflammation. Examination of the other systems was normal. The patient was treated with topical corticosteroids and cycloplegics and the visual acuity improved to 7/10. To our knowledge, there are no previous reports of an association between uveitis and MRS.

A monosymptomatic Melkersson-Rosenthal syndrome in an 8-year old boy.Acta Biomed. 2006 Apr;77(1):20-3.

Melkersson-Rosenthal Syndrome (MRS) is a systemic neuro-mucocutaneous granulomatous disease, characterized in its classical form by a triad of recurrent facial nerve paralysis, swelling of the lips and lingua plicata. However, this classical triad is rarely present, while the monosymptomatic or oligosymptomatic forms are more frequent. The presence of two or one of the manifestations mentioned above, with granulomatous cheilitis in the biopsy, is sufficient to make the diagnosis of monosymptomatic or oligosymptomatic form of MRS. This syndrome is very rare in childhood, instead, it is more frequent in young adults between the second and third decades of life. We present the case of an 8 years old boy who was brought to us because of a non painful swelling of the upper lip, associated with gingival hypertrophy, that had persisted for more than two months. Given the negative results of the hemato-chemical and instrumental assessments, we performed an upper lip biopsy whose histological study showed granulomatous cheilitis. We diagnosed this case as a monosymptomatic MRS and administered an intralesional steroid therapy using triamcinolone, with complete recovery.

Persistent unilateral orbital and eyelid oedema as a manifestation of Melkersson-Rosenthal syndrome.J Eur Acad Dermatol Venereol. 2005 Jan;19(1):107-11

Melkersson-Rosenthal syndrome (MRS) is a complex neuromucocutaneous disorder characterized by localized orofacial oedema and cranial nerve dysfunction, frequently associated with minor signs, including furrowed tongue. Complete forms are rare whereas mono- and oligosymptomatic variants are more common. A 71-year-old man presented with a 2-year history of relapsing and progressively persistent oedema of the right eyelids and periorbital region. A fissured tongue and telangiectatic rosacea had been present since the age of 50 and 60 years, respectively. The patient was also affected by essential hypertension and diabetes mellitus. A skin biopsy showed a marked upper dermal oedema, and small epithelioid cell granulomas arranged in perivascular and perilymphatic location. Collections of small epithelioid cells were occasionally observed within lymphatic spaces. No acid-fast bacteria, fungi or foreign bodies were detected. Intralesional corticosteroids induced transient improvement, whereas minocycline, clofazimine and dapsone have been ineffective. MRS may present with unilateral eyelid and periorbital swelling. Differential diagnoses of such cases may include a variety of cutaneous, ophthalmic and systemic diseases.

Orofacial granulomatosis presenting as persistent lip swelling: review of 6 new cases. J Oral Maxillofac Surg. 2004 Sep;62(9):1114-7

PURPOSE: Orofacial granulomatosis (OFG) is an uncommon disease, which presents usually as a persistent swelling of the soft tissues in the orofacial region and is characterized histologically by a granulomatous inflammation. The term orofacial granulomatosis is used in the literature to describe a nonspecific granulomatous inflammation. A subset, cheilitis granulomatosa (CG), which presents clinically as persistent lip swelling, is a granulomatous inflammation of unknown origin of the lips. CG may also be part of the triad of the Melkersson-Rosenthal syndrome (MRS) and some consider it as an oligosymptomatic form of MRS. PATIENTS AND METHODS: In a retrospective study, we reviewed the clinical records of all patients between the years 1990 and 2002 with the histologic diagnosis of granulomatous inflammation of the lip from the Department of Pathology at the Montreal General Hospital. The age at biopsy, sex, site of lesion, other signs of MRS, signs and symptoms of systemic granulomatous disease, and the treatment were compiled. RESULTS: Six subjects were included in the study, 5 females and 1 male. Four had swelling of the lower lip and 2 of the upper lip. In one patient a history of facial nerve palsy was reported and in another one a mild fissured tongue was present. No signs or symptoms of systemic granulomatous disease were noted. The treatment consisted of intralesional steroids with good results in 5 out of 6 patients. CONCLUSION: A thorough work-up to eliminate other etiologies of granulomatous disease is essential when a patient presents with granulomatous inflammation of the lip. CG seems to respond well to steroid treatment and the need for surgery is minimal and should be reserved for recalcitrant cases.

           

Possible role of Mycobacterium tuberculosis complex in Melkersson-Rosenthal syndrome demonstrated with Gen-Probe amplified Mycobacterium tuberculosis direct test. Australas J Dermatol. 2004 May;45(2):94-9

Melkersson-Rosenthal (MRS) syndrome is characterized by a classical triad of recurrent or persistent orofacial swelling, peripheral facial nerve paralysis and lingua plicata. Granulomatous cheilitis (GC) is regarded as a monosymptomatic form of MRS. The exact aetiologies of MRS and GC are unknown. In this study we investigated the possible role of mycobacteria in these two conditions. A ribosomal RNA amplification-based Gen-Probe amplified Mycobacterium tuberculosis direct test was used to investigate the presence of M. tuberculosis complex in paraffin-embedded skin biopsy specimens from five patients with MRS and one patient with GC. Three of the six specimens were shown to be positive using this system; one of the positive specimens also showed positive Ziehl-Neelsen staining. These results suggest a possible mycobacterial aetiology for MRS and GC.

Orofacial granulomatosis: presentation, pathology and management of 13 cases. J Oral Pathol Med. 2003 Nov;32(10):576-85.

BACKGROUND: Orofacial granulomatosis (OFG) comprises of a group of conditions, all characterized histologically by the presence of granulomatous inflammation. METHODS: This diagnosis may be determined by exclusion from other conditions that may present with similar clinical and histopathologic features. These include Melkersson-Rosenthal syndrome (MRS), Miescher's cheilitis (an oligosymptomatic form of MRS), Crohn's disease, and sarcoidosis. RESULTS: A great deal of attention has been devoted to the similarity and overlap in clinicopathologic and histomorphologic features of these conditions, suggesting that they may actually represent a spectrum within a single overarching entity. In the review of the 13 cases of OFG retrieved from the files of the Long Island Jewish Medical Center, Department of Dental Medicine, we describe their presentation, clinicopathologic features, and management. These cases comprise examples of MRS (in its oligosymptomatic forms) and Crohn's disease. The similarity, kinship, and overlap between the cases presented are clearly demonstrated. CONCLUSION: In addition, based upon our observations and review, we propose the notion that oral manifestations of Crohn's disease may be classified as an oligosymptomatic form of MRS.

Spirochetes--the possible etiological factor of the cheilitis granulomatosa.Chin Med Sci J. 2001 Mar;16(1):52-5

OBJECTIVE: To detect spirochetes in sections and to study the therapeutic effect of penicillin in cheilitis granulomatosa (CG) and Melkersson-Rosenthal syndrome (MRS) and the relationship between the spirochetes infection and CG and MRS. METHODS: Routine HE sections and Warthin-Starry special staining were carried out in 20 cases of CG and 6 cases of MRS. Meanwhile there were 9 cases of CG and 2 caes of MRS were treated by penicillin (12 000 000u, i.v., per day) for two courses (14 days). RESULTS: A kind of spirochete was discovered in the sections of all cases of the CG and MRS. The CG and MRS could be divided into two types histopathologically, that is granuloma type and interstitial inflammatory type (non-granuloma type), those morphological changes tallied with spirochetosis. After treatment by penicillin, the facial and labial swelling of the 11 cases of CG and MRS were abated. CONCLUSION: CG and MRS probably are infectious diseases caused by spirochetes.

Melkersson-Rosenthal syndrome in the periocular area: a review of the literature and case report.Ann Plast Surg. 2003 Jun;50(6):644-8

A triad of facial palsy, facial edema, and furrowed tongue characterizes Melkersson-Rosenthal syndrome, a rare, noncaseating granulomatous disease of unknown cause. Although most reported cases of Melkersson-Rosenthal syndrome involve swelling of the perioral area, the authors present a case of Melkersson-Rosenthal syndrome involving the periocular area. Because of its rarity, the syndrome is usually ignored and misdiagnosed; however, the syndrome should not only be considered in the classic perioral presentation but also in the rare periocular form, which may be confused with orbital tumors and orbital pseudotumors. Biopsies should be performed routinely in all patients who present with eyelid edema of unknown etiology. The physician and surgeon who see patients with head and neck pathology should be familiar with Melkersson-Rosenthal syndrome, and with the possibility of its presentation in the orbit and periocular region.

The immunohistochemical and electron microscopical study of pathological classification of Melkersson-Rosenthal syndrome.Hua Xi Kou Qiang Yi Xue Za Zhi. 2000 Apr;18(2):103-5.

OBJECTIVE: To prove further the pathological classification of Melkersson-Rosenthal syndrome (MRS) and observe the morphological features of the granuloma cells in MRS. METHODS: We studied 20 cases of MRS, with 10 cases of granuloma type and the other 10 cases of non-granuloma type. The negative results of periodic acid-schiff (PAS), Neelren anti-acid special staining and tuberculosis (TB)-DNA polymerase chain reaction proved that all cases were not TB and fungous disease. Then all the cases were labelled with antibody of lysozyme by immunohistochemical staining and investigated with electron microscope. We studied the expression of lysozyme in multinucleated giant cells, epithelioid cells and histiocytes. RESULTS: The results of lysozyme staining were positive in the multinucleated giant cells, epithelioid cells and histiocytes of the granuloma type and were negative in those cells of the non-granuloma type. On the other hand, the small multinucleated giant cells which had 2-3 nuclei were the features of the morphological structure of the granuloma type. The small multinucleated giant cells were not seen in the non-granuloma type. CONCLUSION: In this paper, two pathological types (granuloma and non-granuloma type) in the MRS were proved further and it is found that the different structures of granuloma can be used to discriminate between MRS and sarcoidosis and tuberculosis.