Melkersson-Rosenthal syndrome (MRS) is a rare neuro-muco-cutaneous syndrome, which is characterized by recurrent orofacial swelling, recurrent facial paralysis and fissured tongue. It has a high prevalence in young adults. Up to now, the etiology of MRS is still not clear, it may related to infection, immune deficiency and hereditary factors. The pharmacological therapy and surgery are the main treatment. Corticosteroids seems to be the drug of choice for MRS patient, but the specific dosage and therapeutic effect have not yet been determined. Surgeries of lips provide excellent results in persistentlip edema MRS cases. This article reviews the research progress on MRS, focusing on its epidemiology, etiology, histopathological characteristics, clinical manifestations, classification, diagnostic criteria, differential diagnosis and treatment, to provide information for its early diagnosis and appropriate treatment.
Adrenal Cortex Hormones ; Diagnosis, Differential ; Humans ; Lip ; Melkersson-Rosenthal Syndrome/drug therapy* ; Skin ; Young Adult

Cheilitis granulomatosa (CG) is a subset of orofacial granulomatosis (OFG) and considered to be a monosymptomatic form of Melkersson-Rosenthal syndrome (MRS), which is characterized by the triad of chronic lip swelling, facial paralysis, and fissured tongue. The labial swelling is thought to be associated with an orofacial swelling, which affects the chin, cheeks, and oral mucosa. Histologically, it is distinguished by noncaseating granulomas consisting of lymphohistiocytes and giant cells. Although systemic steroids with or without intralesional triamcinolone injections are the mainstay of treatment, and various agents have been proposed for this rare disease, no successful treatment modality has been reported in the literature yet. Herein, we present our experience with three different CG cases, which showed a varied level of positive response to the combination therapy.
Cheek ; Cheilitis ; Chin ; Facial Paralysis ; Giant Cells ; Granuloma ; Granulomatosis, Orofacial ; Lip ; Melkersson-Rosenthal Syndrome ; Mouth Mucosa ; Rare Diseases ; Steroids ; Tongue, Fissured ; Triamcinolone

Melkersson-Rosenthal syndrome (MRS) is an uncommon granulomatous disease characterized by the triad of relapsing facial paralysis, orofacial swelling, and fissured tongue. Genital swelling in MRS is rarely reported. We presented the first case of complete MRS with genital swelling in a child. Biopsy examinations of both the child's lower lip and penis showed noncaseating granuloma and intralymphatic granuloma infiltration. No symptoms or signs of other systemic disease (Crohn's disease or sarcoidosis) were observed after 2 years of follow-up. Genetic screening for CARD15/NOD2 in this patient showed negative, which further confirmed the diagnosis of MRS. Eleven other cases of suspected complete or incomplete MRS with genitalia involved were reviewed. Our case emphasizes the specific clinical feature of MRS with genitalia involved, which was genetically different from Crohn's disease and could be an independent entity. Lymphatic obstruction is responsible for localized edema in MRS.
Biopsy ; Child* ; Crohn Disease ; Diagnosis ; Edema ; Facial Paralysis ; Follow-Up Studies ; Genetic Testing ; Genitalia* ; Granuloma ; Humans ; Lip ; Lymphatic Vessels ; Male* ; Melkersson-Rosenthal Syndrome* ; Penis ; Tongue, Fissured

Melkersson-Rosenthal syndrome (MRS) is an uncommon granulomatous disease characterized by the triad of relapsing facial paralysis, orofacial swelling, and fissured tongue. Genital swelling in MRS is rarely reported. We presented the first case of complete MRS with genital swelling in a child. Biopsy examinations of both the child's lower lip and penis showed noncaseating granuloma and intralymphatic granuloma infiltration. No symptoms or signs of other systemic disease (Crohn's disease or sarcoidosis) were observed after 2 years of follow-up. Genetic screening for CARD15/NOD2 in this patient showed negative, which further confirmed the diagnosis of MRS. Eleven other cases of suspected complete or incomplete MRS with genitalia involved were reviewed. Our case emphasizes the specific clinical feature of MRS with genitalia involved, which was genetically different from Crohn's disease and could be an independent entity. Lymphatic obstruction is responsible for localized edema in MRS.
Biopsy ; Child* ; Crohn Disease ; Diagnosis ; Edema ; Facial Paralysis ; Follow-Up Studies ; Genetic Testing ; Genitalia* ; Granuloma ; Humans ; Lip ; Lymphatic Vessels ; Male* ; Melkersson-Rosenthal Syndrome* ; Penis ; Tongue, Fissured

Cheilitis granulomatosa, a rare disease of unknown cause, is characterized clinically by recurrent or persistent swelling of the lip. Histopathologically, the dermis contains non-necrotizing granuloma, lymphangiectasia, and perivascular lymphocytic infiltration. Treatment of cheilitis granulomatosa is difficult, due to its unknown etiology. Several therapeutic methods have been attempted, including systemic and intralesional corticosteroids, oral metronidazole, non-steroidal anti-inflammatory drugs (NSAIDs), hydroxychloroquine, and surgical reduction, but unfortunately no treatment method has yet proven reliable.
Adrenal Cortex Hormones ; Cheilitis* ; Dermis ; Granuloma ; Hydroxychloroquine ; Lip ; Melkersson-Rosenthal Syndrome* ; Methods ; Metronidazole ; Minocycline* ; Rare Diseases

Granulomatous vulvitis is a rare localized inflammatory disease characterized by a painless, swollen, indurated and distorted vulva. Histopathologically, it shows chronic non-necrotizing granulomatous inflammation with edema, fibrosis, and lymphangiectasia. Some cases are associated with granulomatous cheilitis or Crohn's disease. So far, only a few cases of idiopathic granulomatous vulvitis have been reported. A 43-year-old female presented with a 1-year-history of persistent swelling of the vulva. The lesion was enlarged, edematous, and indurated, and there were clustered vesicles and papules on the labia major. Histopathologic examination of the swollen labia major showed granulomatous inflammation composed of multinucleated giant cells and epithelioid cells, with numerous lymphocytes in the dermis. Another biopsy specimen obtained from the clustered vesicles showed lymphangiectasia with chronic inflammation. Based on these characteristic histopathologic features and clinical findings, the patient was diagnosed with idiopathic granulomatous vulvitis. Herein, we reported a rare case of idiopathic granulomatous vulvitis that developed in a healthy woman.
Adult ; Biopsy ; Crohn Disease ; Dermis ; Edema ; Epithelioid Cells ; Female ; Fibrosis ; Giant Cells ; Humans ; Inflammation ; Lymphocytes ; Melkersson-Rosenthal Syndrome ; Vulva ; Vulvitis*

Melkersson-Rosenthal syndrome is a rare condition and clinical diagnosis was established on the basis of the triad: facial or lip edema, peripheral facial palsy and scrotal or plicated tongue. Labial swelling(Cheilitis granulomatosa) is the most common feature of this syndrome complex. The lips may enlarge up to three times their normal size, resulting in aesthetic deformity and functional disability. The condition appears to be a granulomatous disorder causing edema and inflammation of the soft tissues of the face, lips, oral cavity and particularly, the facial nerve. Traditional medical interventions are only marginally successful in treating this syndrome. We report the case of a young man with cheilitis granulomatosa as a manifestation of Melkersson-Rosenthal syndrome successfully treated by transverse and vertical star-shaped resection with a transmodiolar labial suspension suture at mouth angle. Our result shows symmetry of the lip, a normalized anterior projection, dimensional harmony between upper and lower lip and no disfiguring cicatrices.
Congenital Abnormalities ; Diagnosis ; Edema ; Facial Nerve ; Facial Paralysis ; Inflammation ; Lip ; Melkersson-Rosenthal Syndrome* ; Mouth ; Sutures ; Tongue

Melkersson-Rosenthal syndrome(MRS) is a rare disorder, having a symptom triad of recurrent facial palsy, orofacial swelling and fissured tongue(lingua plicata). This disorder is usually recurrent or progressive, and monosymptomatic or oligosymptomatic forms have been reported to be more common than classic forms. Generally, MRS occurs in young adults at the end of the second decade of life and incidence of the disease in childhood is known to be very low. Although the clinical manifestation of MRS in children is similar to that in adults, early diagnosis and management is essential to avoid long-lasting functional disorders and psychological problems. We experienced MRS in a 13 year old boy with a history of recurrent facial palsy. We report this case with review of related literature.
Adolescent ; Adult ; Child ; Early Diagnosis ; Facial Paralysis ; Humans ; Incidence ; Male ; Melkersson-Rosenthal Syndrome* ; Young Adult

Cheilitis granulomatosa is a rare disorder of uncertain etiology and characterized by a recurrent orofacial swelling, which was described by Miescher in 1945 for the first time. Symptoms usually manifest during adolescence and initially transient, but subsequently a chronic progressive disability develops. No efficient mode of therapy is yet available. A 71-year-old woman presented with a prominent upper lip swelling which had persisted for more than 6 years. There were no fissuring of the tongue and facial palsy. Oral prednisone was instituted for 6 months with moderate clinical improvement. 2 years later, multiple biopsies were performed at the hard palate, gingiva, and inferior turbinate. And the specimens from the gingiva and inferior turbinate showed scattered non-caseating granulomas, consistent with 'Cheilitis Granulomatosa'. We present here our experience with long-term trial of oral corticosteroid in a 71-year-old woman with cheilitis granulomatosa who had suffered recurrent labial swelling.
Adolescent ; Aged ; Biopsy ; Cheilitis* ; Facial Paralysis ; Female ; Gingiva ; Granuloma ; Humans ; Lip ; Melkersson-Rosenthal Syndrome* ; Palate, Hard ; Prednisone ; Tongue ; Turbinates

Cheilitis granulomatosa, which is a rare inflammatory disorder of unknown origin, was described by Miescher in 1945. A 31-year-old man presented with swelling of both lips without any subjective symptom that had been present for 1 year. The patient had the repeated episodes of upper lip which would resolve in days to weeks that had ended up involving lower lip and eventually persistent. Histopathological study revealed a noncaseating granulomatous inflammation with perivascular lymphocytic infiltration. The patient was treated with systemic steroids and received cheiloplasty. We describe a case of cheilitis granulomatosa improved with systemic steroids and the cheiloplasty.
Adult ; Cheilitis* ; Humans ; Inflammation ; Lip ; Melkersson-Rosenthal Syndrome* ; Steroids