1/7. Oral focal mucinosis of the gingiva: case report.BACKGROUND: Oral focal mucinosis is a rare disease of unknown etiology, where the connective tissue undergoes a focal myxoid degeneration. methods: We describe a 48-year-old patient who was referred for a firm, tender mass located on the gingiva of the left central mandibular incisor. The first clinical impression at examination was that of a periodontal abscess. RESULTS: The lesion underwent a biopsy, and the final microscopic diagnosis was oral focal mucinosis. CONCLUSIONS: It must be stressed that in most focal gingival lesions, a preoperative diagnosis can be almost impossible.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
2/7. Lichen myxedematosus with systemic involvement: clinical and autopsy findings.Lichen myxedematosus is a rare disease that is characterized by the formation of lichenoid papules and plaques. Histologic examination shows deposition of mucinous material in the dermis. We report the case of a patient with cutaneous and systemic involvement and examine the clinical and postmortem data.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
3/7. Discrete papular form of lichen myxedematosus: a case report and review of the literature.The discrete papular form of lichen myxedematosus (LM) is a rare idiopathic skin disorder. We present a case of this type in an 80-year-old African American woman. She was treated with pimecrolimus cream, which resulted in symptomatic relief. To our knowledge, this is the first report of the discrete papular form of LM occurring in an African American, as well as the first report on the disorder's response to pimecrolimus therapy. We also review the English medical literature on this rare disease and examine and summarize the findings.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
4/7. Combination oral prednisone and intravenous immunoglobulin in the treatment of scleromyxedema.BACKGROUND: scleromyxedema is a clinical variant of the rare disease papular mucinosis that has both cutaneous and systemic manifestations. Treatment options are numerous and tend to be associated with serious potential side effects and frequent relapse. OBJECTIVE: We report a case of scleromyxedema treated with low-dose oral prednisone and intravenous immunoglobulin (IVIg). This is followed by a review of the literature. CONCLUSION: IVIg is being used for a growing number of inflammatory and immune disorders. It is being increasingly reported as a successful treatment for scleromyxedema. Although our patient succumbed to the disease, combination therapy with prednisone and IVIg provided temporary symptomatic, laboratory, and clinical improvement of the condition. Optimization of this therapeutic strategy is thus indicated for the management of scleromyxedema.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
5/7. Self-healing juvenile cutaneous mucinosis: cases highlighting subcutaneous/fascial involvement.BACKGROUND: Self-healing juvenile cutaneous mucinosis is a rare disease affecting young people characterized by transient cutaneous lesions and sometimes mild inflammatory symptoms. The deep dermal and subcutaneous features of this disorder have not yet been well described. OBJECTIVE: The purpose of our study was to present 3 cases of self-healing juvenile cutaneous mucinosis in which the histopathologic features caused diagnostic confusion between this disorder and proliferative fasciitis. methods: The study includes clinical and histologic findings of 3 patients, complemented by a literature review. RESULTS: The histologic descriptions of nodular lesions in self-healing juvenile cutaneous mucinosis reveal features of proliferative fasciitis, including a myxoid stroma and gangliocyte-like giant cells. LIMITATIONS: Self-healing juvenile cutaneous mucinosis is a rare condition and has not been frequently reported in medical literature. Our findings are based on the pathologic features of 3 patients. CONCLUSIONS: Our findings further elucidate the histologic features of self-healing juvenile cutaneous mucinosis and expand the differential diagnosis for entities in which gangliocyte-like giant cells are noted.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
6/7. Self-healing juvenile cutaneous mucinosis.BACKGROUND: mucinoses represent a puzzling and heterogeneous group of rare diseases, and self-healing juvenile cutaneous mucinosis is an extremely rare disease among them. OBSERVATIONS: A scleroedematous condition of the face, associated with papular lesions and arthropathies, had occurred in a 5-year-old boy 10 days after onset of fever, arthralgia, muscle tenderness, and weakness. RESULTS: Histologic examination revealed an edematous dermis, occupied by mucin. skin lesions and the joint swellings disappeared spontaneously after 2 months. At the follow-up 5 years later, the patient remains in excellent health. CONCLUSION: Although exceptional, this entity has a well-defined clinical picture, marked by manifestations that are initially worrisome but which, surprisingly, prove to be temporary and benign.- - - - - - - - - - ranking = 2keywords = rare disease (Clic here for more details about this article) |
7/7. Remission of scleromyxoedema following treatment with extracorporeal photopheresis.Scleromyxoedema, a disseminated papular and sclerotic variant of lichen myxoedematosus, is a rare disease with a chronic progressive course, and little tendency towards spontaneous remission. The treatment of scleromyxoedema has been largely ineffective. Aggressive chemotherapeutic agents have been used, often leading to therapy-related morbidity and mortality. We report a 41-year-old woman with scleromyxoedema, associated with a monoclonal gammopathy of IgG-kappa type, whose condition almost completely cleared with 12 monthly sessions of extracorporeal photopheresis. The patient had previously not responded to isotretinoin, and chlorambucil with prednisolone.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |