ABSTRACT
BACKGROUND: Melkersson-Rosenthal syndrome is a rare disease characterized by the triad of recurrent orofacial swelling with facial paralysis and fissured dorsal tongue. Histologically, noncaseating granulomatous inflammation occurs that confirms the diagnosis. Overlaps between granulomatous diseases such as sarcoidosis and Crohn's disease are described. Systemic corticosteroid therapy is the treatment of choice for acute attacks. CASE PRESENTATION: We here present a case of a 59-year-old White woman suffering from Melkersson-Rosenthal syndrome with a past history of sarcoidosis on therapy with leflunomide in combination with low-dose tacrolimus successfully treated with the anti-leprosy drug clofazimine after failure of systemic steroid therapy. CONCLUSIONS: We propose clofazimine as an alternative treatment in steroid-refractory cases.
Subject(s)
Crohn Disease , Facial Paralysis , Melkersson-Rosenthal Syndrome , Sarcoidosis , Behavior Therapy , Female , Humans , Melkersson-Rosenthal Syndrome/complications , Melkersson-Rosenthal Syndrome/diagnosis , Melkersson-Rosenthal Syndrome/drug therapy , Middle Aged , Sarcoidosis/complications , Sarcoidosis/diagnosis , Sarcoidosis/drug therapyABSTRACT
BACKGROUND: Macrocheilia is an inflammatory disfiguring condition responsible for the swelling of the lips. This multi-etiological entity represents a diagnostic and therapeutic challenge. Published data on macrocheilia is scarce, often limited to granulomatous cheilitis. METHODS: We conducted a retrospective study, including all patients presenting with chronic macrocheilia (CM) for nineteen years. CM was defined as a persistent enlargement of one or both lips for at least eight weeks. Both descriptive and analytical analyses were performed. RESULTS: Of the 47 patients identified, 20 (43%) had cutaneous leishmaniasis, 10 (21%) had Miescher's cheilitis, five (11%) had Melkersson-Rosenthal syndrome, five (11%) had sarcoidosis, one (2%) had lepromatous leprosy, one (2%) had systemic amyloidosis, and one (2%) had Crohn's disease. In four cases, the CM was unlabeled. Ulcerations were significantly associated with leishmaniasis (P < 0.05). Histological study showed a granulomatous infiltrate in 72% of cases. Medical treatment was adapted to the etiology of CM. Surgery was performed in two cases. Improvement of CM secondary to leishmaniasis was seen in all cases. In patients with idiopathic orofacial granulomatosis, partial improvement was noted in four cases and a total improvement in one case. Recurrences were noted in three cases after complete regression. CONCLUSIONS: Macrocheilia is a rare and disfiguring condition that requires an etiological investigation, considering that it can reveal a serious underlying systemic disease. We identified several factors that could help recognize the cause of CM, including age, history of intermittent swelling, the extent of lip enlargement, the existence of ulceration, and systemic symptoms.
Subject(s)
Crohn Disease , Melkersson-Rosenthal Syndrome , Crohn Disease/complications , Humans , Lip , Melkersson-Rosenthal Syndrome/diagnosis , Melkersson-Rosenthal Syndrome/epidemiology , Neoplasm Recurrence, Local , Retrospective StudiesSubject(s)
Facial Nerve Diseases/pathology , Facial Paralysis/diagnosis , Melkersson-Rosenthal Syndrome/pathology , Biopsy , Diagnosis, Differential , Facial Paralysis/epidemiology , Facial Paralysis/etiology , Granuloma/diagnosis , Granuloma/pathology , Humans , Inflammation/pathology , Leprosy, Lepromatous/complications , Leprosy, Lepromatous/diagnosis , Leprosy, Lepromatous/pathology , Melkersson-Rosenthal Syndrome/diagnosis , Mouth Mucosa/pathology , Sarcoidosis/complications , Sarcoidosis/diagnosis , Sarcoidosis/pathology , Skin/pathology , Skin Diseases/pathologyABSTRACT
Granulomatous cheilitis and granulomatous vulvitis are rare disorders characterized by painless swelling of lips and vulva, respectively. Histopathology of both conditions show non-caseating epithelioid cell granulomas in the dermis. Both disorders have been associated with Crohn's disease rarely. Occurrence of the two conditions in the same patient is extremely infrequent. We hereby report, the association of granulomatous cheilitis with granulomatous vulvitis in a 30-year-old female.
Subject(s)
Melkersson-Rosenthal Syndrome/complications , Melkersson-Rosenthal Syndrome/diagnosis , Vulvitis/complications , Vulvitis/diagnosis , Adult , Female , Follow-Up Studies , HumansABSTRACT
Involvement of cranial nerves is not uncommon in leprosy with trigeminal and facial nerves being commonly affected. Other cranial nerves can also be involved especially in longstanding cases of leprosy towards the lepromatous pole. Herein, we report a case of leprosy with multiple cranial neuropathy mimicking Melkerson Rosenthal syndrome.
Subject(s)
Cranial Nerve Diseases/etiology , Cranial Nerve Diseases/physiopathology , Leprosy/complications , Leprosy/diagnosis , Melkersson-Rosenthal Syndrome/diagnosis , Adult , Aged , Antitubercular Agents/therapeutic use , Cranial Nerve Diseases/drug therapy , Cranial Nerve Diseases/pathology , Diagnosis, Differential , Facial Nerve/physiopathology , Glossopharyngeal Nerve/physiopathology , Humans , Leprosy/classification , Leprosy/drug therapy , Male , Middle Aged , Treatment Outcome , Trigeminal Nerve/physiopathologyABSTRACT
A case of Melkersson-Rosenthal Syndrome is reported in a middle aged woman. Her skin lesion (cheilitis granulomatosa) resembled tuberculoid leprosy, clinically and histopathologically.
Subject(s)
Leprosy/diagnosis , Melkersson-Rosenthal Syndrome/diagnosis , Diagnosis, Differential , Female , Humans , Middle AgedABSTRACT
An adequate biopsy that includes the subcutaneous tissue is very helpful in the evaluation of patients with suspected connective tissue disease. However, the histologic features must often be correlated with the clinical features and other laboratory tests for a definitive diagnosis. An objective histologic diagnosis can usually be made in scleroderma, lupus erythematosus panniculitis, amyloidosis, and angioedema, and in diseases such as lepromatous leprosy and mycosis fungoids (which are sometimes confused with connective tissue diseases). Correlation with clinical features and, sometimes, other laboratory tests is often required to establish a diagnosis of scleredema, dermatomyositis, myxedema, and lichen myxedematosus. The features in cheilitis granulomatosa usually are not specific, but a biopsy is helpful to rule out other diseases.