1/7. Increased fibroblast elastase activity in acquired cutis laxa.BACKGROUND: Acquired cutis laxa is a rare disease characterized by sagging skin, premature wrinkling and reduced skin elasticity. observation: We report a 21-year-old woman, who presented with acquired cutis laxa on the face and the ear lobes. Urticarial papules had preceded for 6 years. There was no systemic involvement. skin specimens were obtained from lax skin and urticarial papules, and from healthy controls. histology showed only few perivascular lymphocytes in lax ear skin and a dense inflammatory infiltrate in urticarial skin. In both biopsies elastic fibres were decreased as demonstrated by computerized morphometric analyses. Elastase activities of fibroblasts in culture were evaluated. There was a 2- to 3-fold increase in elastase activity in urticarial skin fibroblasts, contrasting with a normal elastase activity in lax ear skin. CONCLUSION: Our findings suggest that the inflammatory cells could play a significant role in the destruction of elastic fibres.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
2/7. Autoantibody reactivity in a case of Schnitzler's syndrome: evidence for a Th1-like response and detection of IgG2 anti-FcepsilonRIalpha antibodies.Schnitzler's syndrome is a rare disease characterized by chronic urticaria, monoclonal IgM, and clinical and laboratory signs of inflammation. In a subset of patients, the urticarial lesions cause pruritus. However, the pathophysiology of the disease and the biochemical basis of urticaria are not known. We describe a female patient with Schnitzler's syndrome suffering from chronic urticaria associated with pruritus. The patient's serum was found to contain IgG antibodies recognizing cellular components of the microvasculature. In particular, IgG3 antibodies directed against proteins (14-100 kD) expressed in cultured dermal microvascular endothelial cells and mast cells, were found by immunoblotting. Moreover, IgG2 antibodies specific for the alpha-chain of the FcepsilonRI were detectable. However, the autoantibodies did not mediate histamine release in mast cells or basophils. In patients with IgM paraproteinemia who did not have Schnitzler's syndrome, antibodies against endothelial/mast cells or FcepsilonRI were not detectable. In summary, we describe subclass-specific IgG reactivity against microvascular endothelial cells and mast cells indicating Th1 autoimmunity in a patient with Schnitzler's syndrome. Whether such autoantibodies are recurrently produced in patients with Schnitzler's syndrome and play a role in the pathophysiology of the disease remains to be determined.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
3/7. Localized heat urticaria: a clinical study using laser Doppler flowmetry.We studied the pathophysiology of localized heat urticaria using laser Doppler flowmetry (LDF) in two patients with this rare disease. In heat challenge tests, performed with different challenge times and temperatures, a heat stimulator with a thermoregulated metal disc was utilized. Immediately after removal of the heat source, cutaneous blood flow (CBF) changes in the tested sites were monitored with LDF. In both patients the increase in (CBF) took place at some intervals after a heat challenge, synchronous with the start of the urticarial response. This interval, or the latency time (LT), showed distinct inverse proportion to the intensity of heat stimuli and was prolonged by effective treatments, such as application of antihistamines and repeated heat exposure by LDF. Therefore, the time of latency might be regarded as a good indicator of the severity of illness and therapeutic effectiveness, and thus might reflect the relationship between the degree of heat stimuli and the releasing process of chemical mediator(s) in patients with localized heat urticaria (LHU).- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
4/7. Cold urticaria in a patient with mycosis fungoides.We report what we believe to be the first documentation of a patient with both cold urticaria and mycosis fungoides. The patient described a marked worsening of his long-standing lesions of mycosis fungoides at the same time as the onset of cold sensitivity. We believe this suggests a possible association between these 2 rare diseases.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
5/7. Recurrent optic disc and retinal vasculitis in a patient with drug-induced urticarial vasculitis.The purpose of this study was to report recurrent optic disc and retinal vasculitis in a patient with drug-induced urticarial vasculitis. Complete ophthalmological examination including fluorescein angiography and visual field examination were done. A 53-year-old woman with recurrent painful urticarial skin lesions following trimethoprim sulfamethoxazole usage had the clinical and histopathological diagnosis of urticarial vasculitis. Two years after cutaneous manifestations, she began to notice visual disturbances in both eyes that recurred at 1-year intervals. Her ophthalmological findings were consistent with recurrent vasculitis of the optic nerve and retina. Treatment with high-dose corticosteroids and hydroxychloroquine resulted in the resolution of cutaneous and ocular manifestations. This patient demonstrates that recurrent occlusive vasculitis of the optic nerve and retina can occur in this rare disease. These patients should be examined periodically by ophthalmologists.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
6/7. Primary selective deficiency of immunoglobulin m.Selective deficiency of IgM as a primary disorder is seldom encountered1--3, and the syndrome remains ill-defined4. It is generally accepted that for a diagnosis to be made, the serum IgM level should be consistently below 2 SD of normal, no other immunodeficiencies are present, and it is not secondary to other disease processes4. This report of an additional case may provide further insight into this rare disease.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
7/7. mastocytosis presenting as a skeletal disorder.mastocytosis is a rare disease of mast-cell proliferation with involvement of the reticuloendothelial systems including skin, bone, gastrointestinal tract, liver, lungs, spleen, and lymph nodes. Systemic mastocytosis is characterized by a combination of symptoms that relate to the mast cells' release of vasoactive substances, such as histamine. These symptoms include urticaria pigmentosa, flushing, syncope with hypotension, headaches, nausea, vomiting, diarrhea, and occasional bronchospasm. The diagnosis of mastocytosis is typically based on the presence of the characteristic extraosseus manifestations. A well recognized roentgenographic feature seen in 70-75% of patients with mastocytosis is diffuse osteolysis and osteosclerosis, affecting primarily the axial skeleton and the ends of the long bones. Rarely, the bony involvement consists of generalized osteoporosis, which may lead to pathologic fracture, or solitary lesions (mastocytomas) which may cause symptoms of localized pain. Four patients with previously diagnosed systemic mastocytosis had unusual skeletal lesions. Clinical and laboratory evaluation of these patients eventually led to the correct diagnosis of systemic mastocytosis. We report these four cases to emphasize the need for thorough evaluation of unusual musculoskeletal findings in association with extraosseus symptoms that are characteristic of mastocytosis. knowledge of a wide differential diagnosis of unusual skeletal lesions should include systemic mastosytosis.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |