Introduction

Orofacial granulomatosis (OFG) is a rare skin condition characterized by swelling of the lips, sometimes accompanied by swelling and enlargement of the soft tissues of the mouth and parts of the face, oral ulcers and granulomas. It is very uncommon affecting only 1% of people, it affects both males and females equally, and it can occur in any age group, but it mostly affects people between 20 and 40 years.

The swelling may come and go at first, but it might become persistent if not treated, causing long-term discomfort and complications. OFG can arise alone(idiopathic), or with other infectious diseases like Tuberculosis, and other systemic conditions like Crohn’s disease and Sarcoidosis. It was also associated with Melkersson-Rosenthal syndrome a neurological condition that usually presents with swollen lips and face, grooved tongue, and repeated incidence of facial paralysis.¹

Signs and symptoms of orofacial granulomatosis

OFG can have several clinical manifestations including the following:^2,3

• Lip swelling: The most common clinical presentation of OFG is painless swelling of the lips, the swelling may not be permanent at first, but it will persist if not treated causing firm and rubbery lips, which is the same oral manifestation of Crohn’s disease and Sarcoidosis
• Cracked/fissured lips: Cracking and fissuring of the lips can occur at the midline or at the angles of the mouth, the fissuring can become very severe leading to difficulties in eating and talking, and sometimes uncontrolled drooling
• Multiple facial swellings: The same swelling pattern may affect other parts of the face such as the chin, cheeks and around the eyes

Other Signs of orofacial granulomatosis in the mouth can be:

• Painful oral ulcers
• Mucosal tags
• Swelling and enlargement of the gum and tongue
• Facial nerve paralysis may be associated with Melkersson-Rosenthal syndrome

Signs and symptoms of OFG can vary from person to person, some patients present with mild symptoms, while others can have a very severe form of the condition, it is very important to be properly diagnosed by a dermatologist or oral medicine specialist, and all associated diseases should be excluded for proper management and treatment.

Causes of orofacial granulomatosis

The exact cause of OFG is not well understood, numerous studies and research were done, suggesting multiple etiologies, some potential contributors include the following:^4,5

1. Immunologic factors: there is evidence suggesting that orofacial granulomatosis could be due to abnormal immune response, but there are not enough studies to support immune theory
2. Genetic: a genetic predisposition to OFG has been suggested, but again there are not enough studies to confirm it
3. Allergy: some common triggers are certain types of food and food preservatives like cinnamon, chocolate and benzoates
4. Infections: microbiological agents have been associated with diseases that have similar manifestations as OFG, and that is why the infection was suspected and studied as a causative factor, however specific infectious agents are not to be identified

Diagnosis

Diagnosis of this condition can be done by one or several steps depending on the clinical manifestation.⁶

• Taking a sample from the swollen lip(biopsy) and sending to the lab for histopathological confirmation is crucial for the diagnosis
• It might be necessary to do some other tests to exclude the systemic conditions that could be presented as OFG for example:
  • Blood tests for infectious diseases like Tuberculosis
  • Chest X-ray to look for sarcoidosis
  • Colonoscopy and blood tests if Crohn’s disease is suspected
  • Patch test to exclude allergies and hypersensitivity

Treatment and management

Treatment of orofacial granulomatosis can vary depending on the patient, the severity of the symptoms and if there is an underlying condition. Treatment of OFG aims at reducing swelling and ulceration and decreasing the ulcers and secondary infections. The management of the condition should involve a multidisciplinary approach, and it can be one or more of the following:⁷

1. Management of underlying condition: in many cases, OFG can be an oral manifestation of a systemic disease, in that case, it is managed by treating the underlying cause
2. Dietary modification: in case of food allergies and sensitivity, removing some food and food preservatives can relieve the symptoms of OFG
3. Corticosteroids: topical corticosteroids can be useful in treating swelling in mild cases, while systemic corticosteroids can be used in more severe involvement
4. Immunomodulatory agents: in some cases where corticosteroids are not effective, or to avoid the side effects of the long-term use of steroids, immunomodulatory drugs like azathioprine have been used to reduce the inflammation
5. Anti-TNF(tumour necrosis factor) agents: Anti‐TNF therapy has been used to treat OFG, with success reported with both thalidomide and infliximab
6. Surgery and laser therapy: surgery can be the last line of treatment in some severe cases of enlargement and fissuring of the soft tissues, to relieve the discomfort and maintain a better quality of life
7. Regular follow-up: it is essential to follow up with professionals depending on the case, dermatologists, oral medicine specialists or gastroenterologists, to monitor and evaluate the condition, and adjust the treatment plan accordingly

Prevention

Unfortunately, because the aetiology of OFG is not scientifically well understood, there is no way to prevent it. The best way to deal with this condition is with early diagnosis and management of the symptoms.

FAQs

What is the cause of orofacial granulomatosis?

The cause of OFG is not clear yet, there is an abundance of clinical research trying to understand the cause and the appropriate management.

How long does OFG last?

In some cases, elimination of the possible triggers will make the symptoms go away, but in most cases, the condition takes a chronic course, lasting for months and sometimes even for years.

Is orofacial granulomatosis contagious?

 The swelling can possibly spread to other areas of your face, but it is not contagious and it cannot spread to other people.

Is OFG the same as Crohn’s disease?

Orofacial granulomatosis is a condition in itself, but it could be associated with Crohn’s disease.

Summary

Orofacial granulomatosis is a disease with a wide spectrum of presentation, the cause of OFG is still unknown, but it could be an oral manifestation of several systematic conditions like Crohn’s disease, Sarcoidosis and other infections like Tuberculosis.

Orofacial granulomatosis can be treated by eliminating the triggering factors, or by treating the underlying systemic conditions, but some cases remain untreated and on chronic medications, and sometimes the condition persists even with treatment and medications for years.

If you are a patient of orofacial granulomatosis or you know someone who is, asking for a professional opinion is very important. An informed decision about the right path of management is the key to tackling the condition with confidence and avoiding long-term complications.