Possible role of Mycobacterium tuberculosis complex in Melkersson–Rosenthal syndrome demonstrated with Gen‐Probe amplified Mycobacterium tuberculosis direct test

Abstract

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.

Melkersson-Rosenthal syndrome in a patient with tubercular panuveitis

“…There is an isolated report of a possible association with tuberculosis. [3] However, in our case, the paraffin-embedded skin biopsy specimen did not demonstrate the MTb antigen by qPCR. The association in our case with tubercular panuveitis may be casual.…”

“…[12] Histopathology showing the presence of perilymphatic granuloma, lymphangiectasia and granulomatous lymphangitis is diagnostic of the above syndrome. [3] Occasional reports of isolated painless, non-pitting and unilateral eyelid edema due to MRS has been described. [124] We report a case of isolated eyelid edema due to MRS, confirmed histopathologically, in a patient with tubercular panuveitis.…”

Characterisation of a Swedish cohort with orofacial granulomatosis with or without Crohn's disease

“…Available scientific data do not point to a single factor that can explain the development of OFG in all patients who suffer from this disease (Giovannetti et al , ). Thus, the development of OFG most likely represents the outcome of interacting factors including genetic susceptibility (Stosiek et al , ; Gibson and Wray, ), environmental factors such as the microflora (Ivanyi et al , ; Gibson et al , ; Apaydin et al , ; Savage et al , ) and host immune responses (Lim et al , ; Freysdottir et al , ; Patel et al , ; Giovannetti et al , ).…”

Melkersson–Rosenthal syndrome with diffuse facial swelling and multiple cranial nerve palsies

“…Both genetic and acquired causes including underlying infections, especially mycobacterial, spirochaetal or odontogenic infections, immunological insult and allergic reactions to food and food additives have been postulated. 9,10 It is considered to be in the spectrum of oro-facial granulomatosis, which includes sarcoidosis, Crohn's disease and cheilitis granulomatosa of Miescher. In our case, the elevated ACE level and the demonstration of non-caseating epithelioid cell granulomas on histopathology evoked the possibility of sarcoidosis.…”