Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0349506 (photosensitivity)
 4,145 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The clinical and serological features and HLA phenotypes are reported for 11 patients with coexistent features of rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE). All patients had a symmetrical small joint polyarthritis and features of SLE such as rash, photosensitivity, oral ulceration, serositis, cytopenia, and biopsy proved lupus nephritis. Eight had hypocomplementaemia. Autoantibodies were characteristic of the two diseases: all patients had rheumatoid factor and antibodies to double stranded DNA, eight (73%) had antibodies to collagen, and five (46%) had antibodies to Ro (SS-A). There was also an overlap of HLA phenotypes. Six patients were DR4 and seven were DR2 or DR3 positive, and of the five patients who were DR4 negative, four shared class I alleles often associated with DR4. If RA and SLE share a common autoimmune dysfunction, those patients who have the two diseases do so because they have genetic determinants of both.
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PMID:Coexistent rheumatoid arthritis and systemic lupus erythematosus: clinical, serological, and phenotypic features. 155 Mar 99

Rheumatoid arthritis (RA) once a rarity in Africa, is now reported in large numbers from many parts of Africa. Although epidemiological surveys have shown that the prevalence in urban populations is similar to Western communities, it is less common in rural areas. Further epidemiological studies are needed to confirm these findings in other parts of Africa and identify factors contributing to this difference to provide a better understanding for the emergence of RA in Africa. Earlier reports suggested that in African blacks RA was a mild disease, severe radiographic changes were uncommon, deformities were rare and extra-articular features were unusual and only symptomatic therapy was necessary to control symptoms in most patients. Recent experience shows that severe disease with deformities and radiographic changes are seen and a wide spectrum of extra-articular features are noted although they may be less common than in Caucasians. African blacks with RA may have a younger age of onset and the genetic association with HLA DR4 has been confirmed. Systemic lupus erythematosus (SLE) is also recognized more often in African blacks who have a younger age of onset. SLE is also recognized less often in males. Features such as photosensitivity and serositis are less common while renal disease is more common. A reported short-term mortality of about 30% emphasizes the need for urgent efforts to improve the prognosis in SLE. The infrequent occurrence of localized systemic sclerosis and the absence of anti-centromere antibodies in blacks was noted in a recent large series of patients with systemic sclerosis. The other connective tissue diseases and systemic vasculitides are reported much less frequently and will probably be detected more often in future. Anti-cardiolipin antibodies are detected frequently in association with infections, including HIV infection. The spectrum of diseases associated with ANCA includes a variety of connective tissue diseases and infections such as HIV infection and invasive amoebiasis must be added.
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PMID:Rheumatoid arthritis and connective tissue disorders: sub-Saharan Africa. 772 86

The first case of systemic lupus erythematosus (SLE) was reported from India in 1995 followed by two more case reports and further, a series of eight cases, till 1969. Since the establishment of a clinical immunology laboratory at a major teaching institution in New Delhi in 1968, SLE was extensively studied and reported from that centre. From mid-1980 onwards several other centres in different regions in India including Chennai (old name Madras), Mumbai (old name Bombay), Calcutta and Hydrabad, also published their regional experience on SLE. Based on these data, the present report describes the clinical and laboratory characteristics of 1366 SLE patients seen in different regions of India. Arthritis, rash, photosensitivity, seizures and psychosis were seen in comparable proportions to other racial groups. Similarly, ANA and anti-DNA antibody positivity was also within the range seen in other racial groups. When compared with other series, however, alopecia, renal lupus, oral ulcers and neurological involvement was seen in higher proportions, reaching statistically significant figures in comparison to some racial groups. In contrast, haematological manifestations were seen in significantly less proportions in comparison to some of the racial groups. Serositis and discoid lesions were also seen in lower proportions than in most of other races. The proportion of those with anti-Sm antibodies was in between two extremes of highest among Africans and Israelis and lowest among Chinese and Europeans. Other manifestations were comparable to most other racial groups. Compared to North American and European reports, significantly low 5 and 10 year survival was observed among patients from India. This could be related to the general public health situation in the country including less than optimal management facilities in hospitals, delay in diagnosis due to lack of awareness of the disease, referral bias where only serious patients reach major city hospitals, or a truly severe disease among Indians, or a combination of these genetic, environmental and/or sociocultural factors. The Main causes of death were irreversible renal damage, infections and neurological involvement. Despite a comparable prevalence of anticardiolipin antibodies (aCL) and lupus anticoagulants (LAC), clinical antiphospholipid syndrome was significantly less common. Genetic studies showed appreciable increase of HLA DR4 (37.5%) among patients compared with controls (18%). Additionally the haplotype B8-DR3 was encountered frequently in the patient group.
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PMID:Systemic lupus erythematosus in India. 941 83

A 35-year-old man presented at the age of 8 years with recurrent pruritic papulovesicular lesions on his face and body appearing within minutes of light exposure. A recent positive finding of human leukocyte antigen (HLA) DR4 with the rare DRB1*0407 subtype confirmed a diagnosis of actinic prurigo. Thalidomide (100 mg/day) was commenced at the age of 11 years after an unsuccessful trial of other treatments and his lesions resolved within 2 months. Attempts to withdraw thalidomide have resulted in recurrence of photosensitivity and the patient has remained on a virtually continuous maintenance dose of thalidomide (50 mg/ day) for 23 years. His cumulative dose is estimated to be over 400 g. To date, he has not experienced any adverse effects and investigations have shown no evidence of neuropathy. This case illustrates the safe long-term use of thalidomide.
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PMID:Long-term thalidomide for actinic prurigo. 1190 63

We present the cases of three siblings with systemic lupus erythematosus (SLE). The diagnosis was made when the sisters were of age 21, 25 and 28 years. They shared some clinical features, including typical facial rash, photosensitivity and Raynaud's phenomenon, and tested positive for antinuclear antibodies. However, their symptoms and clinical courses varied. Human leukocyte antigen (HLA) typing revealed that DR4 and A2 were present in all three sisters, while HLA type A11, B35 and B54 were each found in two of the three sisters. The two elder sisters developed lupus glomerulonephritis 8 and 11 years after the onset of SLE. It is suggested that there are genes responsible for the onset of the disease and also unknown regulatory genes other than HLA result in different phenotypes.
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PMID:Three siblings with systemic lupus erythematosus. 2213 98