Cheilitis granulomatosa (granulomatous cheilitis) is characterized by persistent idiopathic swelling of the lip due to granulomatous inflammation. It is thought to be a subset of orofacial granulomatosis (OFG), and the term is frequently used in the literature to describe the monosymptomatic presentation of Miescher cheilitis.[1, 2, 3, 4, 5, 6]
OFG represents a spectrum of disease characterized by granulomatous inflammation of the oral and maxillofacial region in the absence of systemic disease (eg, Crohn disease).[1, 3, 6, 7] It is rare for patients to progress to symptoms of Crohn disease.[8, 9]
Miescher-Melkersson-Rosenthal syndrome is the term used when the cheilitis occurs as part of a symptomatic triad that includes facial palsy and plicated (fissured) tongue. The entire triad is not always present.
Miescher cheilitis is a term sometimes used when the granulomatous changes are confined to the lip. Miescher cheilitis is generally regarded as a monosymptomatic form of Miescher-Melkersson-Rosenthal syndrome. (See the image below.)
![]() View Image | Orofacial granulomatosis in a patient with Crohn disease showing showing lip and gingival swelling. |
The cause of granulomatous cheilitis is unknown.[10] Normal lip architecture is altered by lymphedema and noncaseating granulomas in the lamina propria. Excessive permeability of facial cutaneous vessels resulting from abnormal regulation of the autonomic nervous system has been suggested as a potential cause. Hornstein proposed that nonspecific antigens may stimulate perivascular cells to form granulomas, causing obstruction of the vessels and subsequent facial swelling.[11]
Dietary or other antigens are the most common identified cause of OFG.[12, 13] Contact antigens (eg, cobalt, gold, or mercury0 are sometimes implicated.[14] OFG may also result from reactions to foods or medicaments, particularly cinnamon aldehyde and benzoates but also butylated hydroxyanisole, dodecyl gallate, menthol, and monosodium glutamate.[15]
Expression of protease-activated receptor 1 and 2 occurs in OFG. Th1 immunocytes produce interleukin (IL)-12 and RANTES/MIP-1alpha and granulomas. HLA typing may show HLA A*02, HLA*A11, HLA DRB1*11, HLA DRB1*13, and HLA DQB1*03.[16] Low levels of HLA A*01, HLA DRB1*04, HLA DRB1*07, and HLA DQB1*02 may be found as well.[17]
Crohn disease, sarcoidosis, and OFG may present with similar histologic findings. Analogous findings have also been reported after liver transplantation in children.[18] Research has attempted to identify related genetic risk factors between Crohn disease and OFG to correlate their similar clinical presentation and sometimes comorbid development.[6, 19] Missense coding in NOD2-variant patients may indicate the concurrent development of OFG with intestinal disease, but not OFG alone.[20]
Miescher-Melkersson-Rosenthal syndrome is not usually related to the development of inflammatory bowel disease (IBD). However, one longitudinal study tracking 27 patients with a median follow up of 30 years found that one patient with cheilitis granulomatosa developed Crohn disease and two with Miescher-Melkersson-Rosenthal syndrome developed ulcerative colitis.[21] This is still an active area of research.
A genetic predisposition may exist in Miescher-Melkersson-Rosenthal syndrome; siblings have been affected, and a plicated tongue may be present in otherwise unaffected relatives. Paternal and maternal inheritance has been implicated in some cases.[22] A mutation in the FATP1 gene has been found in patients with this syndrome.[23] It may follow a pattern of autosomal dominant inheritance, with the responsible gene being located on 9p.[24]
Etiologic possibilities include the following:
Although the actual frequency of this condition has not been definitively established, one study estimated its incidence at 0.08% of the general population.[25] The onset of granulomatous cheilitis usually comes in young adulthood. Both OFG and Miescher-Melkersson-Rosenthal syndrome have an average age of onset of about 32 years; however, cases may present as early as age 3 years and as late as age 78 years.[26]
Swelling is typically chronic. Morbidity related to the disease depends also on whether an underlying organic disease (eg, Crohn disease or sarcoidosis[27] ) is present. Patients, especially children and adolescents, who present with what appears to be granulomatous cheilitis or OFG should be very carefully evaluated for gastrointestinal symptoms, signs, and disease.[28]
Cheilitis granulomatosa (granulomatous cheilitis) is usually seen in orofacial granulomatosis (OFG) as an episodic nontender swelling and enlargement of one or both lips. Occasionally, similar edematous swellings involve other areas, including the periocular region and genitalia.[22, 29, 30]
A fissured or plicated tongue is seen in 20-40% of patients. Its presence from birth (in some patients) may indicate a genetic susceptibility. Patients may lose the sense of taste and have decreased salivary gland secretion.
The first episode of lip edema typically subsides completely in hours or days. After recurrent attacks, swelling may persist and slowly increase in degree, eventually becoming permanent. The timing of recurrences can range from days to years.
Attacks sometimes are accompanied by fever and mild constitutional symptoms (eg, headache, visual disturbance). Miescher-Melkersson-Rosenthal syndrome involves the association with facial nerve palsy and plicated tongue.[31, 32]
Facial palsy of the lower motor-neuron type occurs in about 30% of patients with granulomatous cheilitis. Facial palsy may precede facial swelling by months or years, but it more commonly develops later. The palsy is intermittent at first but may become permanent. It can be unilateral or bilateral, partial or complete.
Other cranial nerves (eg, olfactory, auditory, glossopharyngeal, hypoglossal) are occasionally affected.
The earliest manifestation of granulomatous cheilitis is sudden diffuse or occasionally nodular swellings of the lip or the face involving (in decreasing order of frequency) the upper lip, the lower lip, both lips, and one or both cheeks.[33] The forehead, the eyelids, or one side of the scalp may be involved (less common).[30, 34] As previously mentioned, a fissured or plicated tongue is seen in 20-40% of patients.
The lip swelling may feel soft, firm, or nodular on palpation. Once chronicity is established, the enlarged lip appears cracked and fissured, with reddish-brown discoloration and scaling. The fissured lip becomes painful and eventually acquires the consistency of firm rubber. Swelling may regress very slowly after some years. Regional lymph nodes are enlarged (usually minimally) in 50% of patients.
Orofacial lesions of OFG and of Crohn disease may include facial or labial swelling, “cobblestone” proliferation of mucosa or mucosal tags, ulcers, or some combination thereof. An initial presentation of probable OFG does not necessarily predict the development of Crohn disease, but this is more likely in childhood.[8, 9]
Facial palsy of the lower motor-neuron type occurs in as many as 30% of patients. It can be unilateral or bilateral, partial or complete. Other cranial nerves (eg, olfactory, auditory, glossopharyngeal, hypoglossal) are occasionally affected.
Central nervous system (CNS) involvement has been reported, but the significance of the resulting symptoms is easily overlooked because they are highly variable (sometimes simulating multiple sclerosis but often with a poorly defined association of psychiatric and neurologic features). Autonomic disturbances may occur.
Serum angiotensin-converting enzyme (SACE) testing may be performed to help exclude sarcoidosis. Patch tests may be used to help exclude reactions to metals, food additives, or other oral antigens[36] ; some cases of granulomatous cheilitis may be associated with such sensitivities. If found, avoidance of the implicated allergen is recommended.
Decreases in iron, hemoglobin, ferritin, and folate, as well as increases in C-reactive protein (CRP), celiac antibodies, serum immunoglobulin E (IgE), and alkaline phosphatase (ALP), have been documented as being associated with orofacial granulomatosis (OFG); however, the evidence has not been sufficient to establish any of these as consistent markers of the disease.[6]
OFG is the term given to granulomatous lesions resembling those of Crohn disease that are found on oral biopsy but in cases where there is no detectable systemic Crohn disease (though this may be detected later).[37] Gastrointestinal (GI) tract endoscopy, radiography, and biopsy may be used to help exclude Crohn disease. Chest radiography or gallium or positron emission tomography (PET) may be performed to help exclude sarcoidosis and tuberculosis. Panorex dental films may be obtained to assess for the presence of a chronic dental abscess.
A biopsy of the swollen lip or orofacial tissues is indicated, but it often shows only lymphedema and perivascular lymphocytic infiltration during the early stages and may show granulomas only during later stages. Biopsy may be helpful for excluding Crohn disease, sarcoidosis, lymphoma, and other conditions in the differential diagnosis.
In many cases of long duration, histologic changes are not always conspicuous or specific; the infiltrate becomes denser and pleomorphic, and small focal noncaseating sarcoidal granulomas are formed that are indistinguishable from those seen in Crohn disease or sarcoidosis.
The inflammatory response is probably mediated by cytokines such as tumor necrosis factor (TNF)-α and by protease-activated receptors (PARs), matrix metalloproteinases (MMPs), and cyclooxygenases (COXs). There is submucosal chronic inflammation with many T helper 1 (Th1) and mononuclear interleukin (IL)-1–producing cells, large active dendritic B cells, and noncaseating granulomas.[38] In some cases, small granulomas occur in the lymphatic walls. Similar changes may be present in cervical lymph nodes.
Treatment of cheilitis granulomatosa (granulomatous cheilitis) is difficult and frequently unsatisfactory. In severe cases of labial swelling, medication or surgical intervention may be required, but most cases respond to more conservative measures (eg, exclusion of offending substances).[33] Intralesional corticosteroids may be helpful in some patients, and anecdotal reports have described success with other treatments. Simple compression may yield improvement. Surgery alone is relatively unsuccessful.
Patients with lesions apparently restricted initially to the mouth may progress to exhibit frank intestinal Crohn disease.[39, 40, 41] It is therefore worthwhile to consult a gastroenterologist, an immunologist, a dietician, and an oral medicine specialist.
Follow-up care is indicated, particularly for excluding the development of Crohn disease and, possibly, ulcerative colitis. Dermoscopy may be helpful in assessing the response to treatment.[42]
Exclusion of offending substances may help facial swelling resolve.[43] As many as 40% of orofacial granulomatosis (OFG) patients may have positive reactions to patch tests; half of these benefit from antigen exclusion.[44]
Granulomatous cheilitis or OFG may improve with the implementation of a cinnamon- and benzoate-free diet. Benefit has been reported in 54-78% of patients.[45]
Immunomodulatory agents that have been tried in the treatment of cheilitis granulomatosa include the following:
Antimicrobials that have been used include the following:
Intralesional corticosteroids (eg, triamcinolone) may be helpful in some patients,[55] and their use in combination with antibacterial drugs such as metronidazole has been effective in several instances.[46, 52] There have been anecdotal reports of success with other treatments, including intralesional pingyangmycin plus dexamethasone.[56] A small case series reported significant reponse with the Janus kinase inhibitor upadacitinib.[57]
Although intralesional corticosteroid injections may reduce swelling, systemic corticosteroids are rarely indicated, and not all patients respond. Clofazimine, dapsone, tacrolimus, thalidomide, or anti–tumor necrosis factor (TNF) biologics may be needed.[37] There is a lack of data from large randomized controlled trials (RCTs) on potential therapies such as tacrolimus, thalidomide, or infliximab.
Simple compression for several hours daily may produce sustained improvement. Compression devices can be worn overnight to reduce lip edema.
Extensive labial swelling can be disfiguring and can have serious social consequences for the patient; accordingly, changes in personal affect should be taken into consideration in selecting treatment options for patients with cheilitis granulomatosa.[33] Furthermore, comorbid psychiatric diseases and other affective phenomena may be linked to the relapse frequency of Miescher-Melkersson-Rosenthal syndrome.[58] In one case, targeted psychotherapeutic intervention resulted in both decreased relapse frequency of the syndrome and remission of depression.[58]
Surgery and radiation therapy have been used in treating cheilitis granulomatosa. Surgery alone is relatively unsuccessful. Reduction cheiloplasty with intralesional triamcinolone and systemic tetracycline offers the best results.[59] Medical therapy is necessary to maintain the results of reductive cheiloplasty during the postoperative period.[33] Corticosteroid injections should be administered periodically after surgery to avoid an exaggerated recurrence.
Nerve decompression has been successful in the treatment of recurrent facial nerve palsy.[60]
A case report described successful use of radiofrequency (RF) therapy to treat refractory granulomatous cheilitis.[61]
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