1/5. Scleredema associated with paraproteinaemia treated by extracorporeal photopheresis.Scleredema is a rare disease characterized by extensive cutaneous woody, non-pitting induration that spreads throughout the body. We describe a patient with scleredema associated with paraproteinaemia who was successfully treated by extracorporeal photopheresis.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
2/5. Scleromyxoedema: treatment of cutaneous and systemic manifestations with high-dose intravenous immunoglobulin.Scleromyxoedema is a rare disease characterized by cutaneous sclerosis, mucin deposition and paraproteinaemia. Internal disease is common, particularly musculoskeletal, gastrointestinal and central nervous system involvement. We report a series of three consecutive patients with scleromyxoedema treated with high-dose intravenous immunoglobulin (hdIVIg). Each of the three patients had relatively low levels of a highly basic IgG-lambda paraprotein, and each has demonstrated a sustained response of both their cutaneous and extracutaneous disease to hdIVIg. As all patients had perioral skin involvement and microstomia, one measure of cutaneous improvement was the increase in intraincisor distance. Extracutaneous manifestations of scleromyxoedema that improved included ureteral stricture, vocal strength and dysphagia.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
3/5. Diffuse dermal angiomatosis: A previously undescribed pattern of immunoglobulin and complement deposits in two cases.Two cases of diffuse dermal angiomatosis are reported in middle-aged women. This rare disease of unknown origin is characterized by increased dermal angiomatosis and ulceration. The clinical and histologic presentations of the presently reported lesions were typical for this disorder. endothelial cells exhibited a normal immunophenotype. The perivascular basement membranes showed a distribution of collagen alpha chains typical for blood vessels, but not for lymphatics. immunohistochemistry revealed other undescribed features. At the site of the clinical lesions, linear and granular deposits of immunoglobulins A and M, and complement were found around the vessels and at the dermal-epidermal junction. The same deposits were also found restricted to the dermal-epidermal junction in the peripheral clinically intact skin. No serological signs of auto-immune disorder were detected in one patient. A monoclonal gammopathy was disclosed in the other patient. A pattern of immunoreactant deposits similar to that disclosed in the two patients was not found in the control specimens, and has not been described so far in other types of vascular hyperplasia and neoplasia. A pathogenic role of these deposits is unsettled and should be further explored.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
4/5. Bone involvement in generalized crystal-storing histiocytosis.The abnormal secretion of monoclonal immunoglobulins observed with monoclonal gammopathies and other clonal B cell dyscrasias can be responsible for a spectrum of deposition disorders. Crystal-storing histiocytosis (CSH) is a rare disease affecting patients with B cell dyscrasias and monoclonal gammopathies, characterized by the accumulation of histiocytes that have phagocytosed an abnormal crystalline immunoglobulin. We describe 2 cases of this rare disorder with multiorgan involvement and prominent bone involvement. magnetic resonance imaging showed bone marrow infiltration and images of avascular necrosis. Bone specimen analysis gave histological proof of diffuse bone infiltration by the abnormal histiocytes. Bone involvement, which appears to be a specific feature of CSH, links this entity to other storage disorders, such as gaucher disease. Because the accumulation of abnormal immunoglobulin-loaded histiocytes is clearly pivotal, CSH should be considered not only as an immunoglobulin deposition disease but also as a storage histiocytic disorder.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
5/5. 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) |