Orofacial granulomatosis

Orofacial granulomatosis can often present with lip swelling

Aetiologies can include orofacial granulomatosis, Crohn disease, sarcoidosis, infections and lymphoma

Accompanying orofacial lesions may include ulcers, mucosal ‘cobblestones’, mucosal tags, gingival enlargements or facial palsy

Diagnosis is confirmed by biopsy and other investigations

Treatment depends on the cause

INTRODUCTION

Orofacial granulomatosis (OFG) is an uncommon condition very similar to Crohn disease, due to granulomatous inflammation (Fig. 46.1) and often presents with granulomatous cheilitis, a rare, chronic swelling of the lip. OFG can also manifest with angular stomatitis and/or cracked lips (Fig. 46.2), ulcers, mucosal tags, cobble-stoning or gingival hyperplasia.

Fig. 46.1 Granulomatous cheilitis – persistent painless diffuse swelling

Fig. 46.2 Granulomatous cheilitis (same patient as Fig. 46.1)

INCIDENCE

It is uncommon.

AGE

The onset is usually in adolescents and young adult life and has no known racial predilection.

GENDER

Either gender but males may predominate.

PREDISPOSING FACTORS

OFG sometimes arises from an adverse reaction to various foods or additives which include cinnamic aldehyde, benzoates, butylated hydroxyinosole or dodecyl gallate (in margarine), or menthol (in peppermint oil). Others have or develop, gastrointestinal Crohn disease or sarcoidosis; others have a postulated reaction to other antigens (e.g. metals, such as cobalt), or paratuberculosis or mycobacterial stress protein mSP65.

AETIOLOGY AND PATHOGENESIS

The cause of OFG is unknown, but it may be related to, or may be, Crohn disease and there may be a genetic predisposition. A delayed type of hypersensitivity reaction appears to be involved, although the exact antigen inducing the immunological reaction appears to vary in individual patients. The inflammatory response is:

probably mediated by cytokines such as tumour necrosis factor (TNF) alpha, and by protease-activated receptors (PARs), matrix metalloproteinases (MMPs) and cyclo-oxygenases (COXs)

submucosal and chronic with many Th1 and mononuclear, IL-1 producing cells and large, active, dendritic B cells

associated with non-caseating granulomas in the lamina propria, which appear to cause lymphatic obstruction and lymphoedema, resulting in the clinical swellings (Fig. 46.3).

Non-tender swelling and enlargement of one or both lips (Figs 46.1 and 46.2). At the first episode the swelling typically subsides completely in hours or days, but after recurrent attacks the swelling may persist, slowly increases in degree and eventually becomes permanent. The lip involved may feel soft, firm or nodular on palpation. Swellings involve, in decreasing order of frequency, the lip and one or both cheeks. Less commonly, lingual, palatal, gingival and buccal swellings also may occur. The forehead, the eyelids or one side of the scalp may be involved as well or in isolation. The normal lip architecture is eventually chronically altered by the persistence of lymphoedema and non-caseating granulomas in the lamina propria. Once chronicity is established, the enlarged lip appears cracked and fissured, with reddish brown discolouration and scaling becomes painful and eventually acquires the consistency of firm rubber.