Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0003864 (arthritis)
 69,039 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A previously unreported case of congenital contractural arachnodactyly (CCA) is described. This hereditary connective tissue abnormality resembles Marfan's syndrome in certain respects, but is characterized by camptodactyly rather than joint laxity, as well as by congenital contractural deformities of the knees and elbows. In addition, there is a peculiar, fairly characteristic deformity of the external ear. Like Marfan's syndrome, it is transmitted in autosomal dominant fashion. Despite the superficial skeletal resemblance, however, the cardiovascular and ocular complications of Marfan's do not seem to occur and therefore differentiation of the two syndromes is important.
Arthritis Rheum 1979 May
PMID:Congenital contractural arachnodactyly: description of a new kindred. 44 17

A mycoplasma designated strain GM790A was isolated from milk and internal organs of 2 lactating goats showing mastitis and arthritis. The isolate was not related serologically to any of the currently known ovine-caprine mycoplasmas, except an isolate designated Mycoplasma sp. G, first recorded from the external ear canal of clinically normal goats in Australia. Sodium dodecyl sulfate-polyacrylamide gel electrophoresis and restriction enzyme DNA studies of strain GM790A and Mycoplasma sp. G revealed similar but not identical patterns. The inoculation of strain GM790A into the teat canal of 2 lactating goats resulted in an abrupt diminution of lactation leading to mastitis and agalactia in about 3 days. A maximum of 1 x 10(7) colony-forming units (CFU) of the mycoplasma were shed per ml of mammary secretion. Milk production partially resumed at a low level 3 weeks postinoculation, the longest period tested, but the milk still contained 1 x 10(2) CFU of the agent. The results of this study indicate that strain GM790A possesses pathogenic potential for the goat and most probably represents a new species of the genus Mycoplasma.
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PMID:Characteristics of an unusual mycoplasma isolated from a case of caprine mastitis and arthritis with possible systemic manifestations. 203 89

Relapsing polychondritis (RP) is a rare multisystemic disease characterized by the recurrent inflammation of the cartilaginous structures of the external ear, nose, joint, larynx, and tracheobronchial tree, whose etiology might involve an immunological mechanism. Five patients with RP were analyzed. They consisted of 4 males and 1 female, with ages of onset ranging from 27 to 75. Duration from onset to diagnosis varied from 10 months to 5 years. All 5 patients had auricular chondritis and arthritis. Laringotracheal involvement was detected in 4 patients, scleritis in 2 patients, nasal chondritis, and costal chondritis in one patient. One patient was diagnosed to have MAGIC syndrome, complicated with oral and genital ulcers. Antibodies to type II collagen were detected in 4 patients, and the antibody titer correlated with the level of C-reactive protein. Corticosteroids were given to 5 patients. After treatment, the symptoms improved in 5 patients, but 3 patients had a recurrence as reducing corticosteroids. One of them received steroid pulse therapy, one received immunosuppressive drugs, and one patient received both treatments. To prevent an impairment of organs, an early diagnosis involving the use of antibodies to type II collagen and steroid therapy are important in this disease.
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PMID:[A clinical study of five cases demonstrating relapsing polychondritis]. 1972 48

Leprosy can present with a variety of clinical manifestations depending on the immune status of the individual. After dermatological and neurological involvement, rheumatic features specially various forms of arthritis are the third most common manifestation of the disease. We describe a unique case of a 22-year-old patient presenting with external ear involvement mimicking relapsing polychondritis along with inflammatory joint symptoms and skin lesions. Ear involvement in relapsing polychondritis characteristically is painful and spares the noncartilaginous ear lobules, in contrast to painless ear involvement in leprosy affecting the lobules as well. Histopathology confirmed the diagnosis, although the ear and skin lesions were not classical of leprosy. Such a presentation of leprosy closely mimicking relapsing polychondritis has not been described previously. Tissue diagnosis should always be attempted whenever possible in patients presenting with autoimmune features, so that inappropriate therapy with immunosuppressants is avoided.
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PMID:Leprosy with Atypical Skin Lesions Masquerading as Relapsing Polychondritis. 2811 86

Alkaptonuria is a rare autosomal recessive metabolic disorder caused by deficiency of homogentisic acid (HGA) oxidase, the only enzyme capable of catabolizing HGA. Deficiency of this enzyme leads to excess HGA which deposits in the connective tissue. We present a case of a 64-year-old woman who was referred to the dermatology clinic for a full body mole check and skin cancer screening. Clinically she had blue/gray pigmentation of the external ear and sclera. Also she had a domed papule on the left cheek with punctate gray pigmentation which was biopsied. Histopathological examination showed a benign dermal nevus and nonpolarizable, yellow-brown, irregular shaped fibers. Subsequent organic acid screen showed markedly elevated urinary HGA, diagnostic of alkaptonuria. On specific inquiry, the patient revealed she had a history of bilateral Achilles tendon rupture, black urine, arthritis, and external ear discoloration for many years. The pigmented material was then considered to be HGA deposition within the dermal collagen fibers. However, without the appropriate clinical data and confirmatory lab findings, the pigmented fragments on skin biopsy represent a diagnostic challenge. Measures like low protein diet and ascorbic acid supplementation will slow down the disease progression and potential complications later in life; however, there is no definitive treatment for the disease. We emphasize the prompt recognition of the clinical signs and symptoms as well as the importance of the microscopic findings.
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PMID:Alkaptonuria: A Case Report With Diagnostic Challenge. 2881 44