Arcuate dermal erythema in a carrier of chronic granulomatous disease

A female carrier of chronic granulomatous disease developed arcuate, erythematous dermal plaques on her back and face. The lesions were clinically and histopathologically suggestive of Jessner benign lymphocytic infiltration of the skin. Some women with relatively fixed arcuate or annular, erythematous, dermal plaques may be carriers of chronic granulomatous disease.     

Celiac disease associated with systemic lupus erythematosus

Celiac disease in children has been occasionally reported to be associated with various disorders such as arthritis, cutaneous vasculitis and diabetes mellitus. We report on a 12-year-old girl with celiac disease, diagnosed at 1 year of age, who developed systemic lupus erythematosus. This association has not yet been reported in children.     

Tuberculosis among Filipino patients with systemic lupus erythematosus

A retrospective review of the clinical records of 54 patients with systemic lupus erythematosus (SLE) and documented tuberculosis (TB) infection seen at the University of Santo Tomas Hospital was accomplished. There were 53 women and one man, with a mean age of 32.2 +/- 10 years and a total of 57 TB occurrences. Pulmonary involvement was recorded in 42 (74%): upper lungfield in 25, mid to lower lungfield in 7, and miliary pattern or diffuse infiltrates in 10. TB arthritis was noted in 8, osteomyelitis in 4, and soft tissue abscesses in 4. Central nervous system involvement consisted of brain abscesses (tuberculomas) in two and meningitis in one. Two patients each had TB lymphadenitis, genitourinary TB, ileocecal TB, and TB peritonitis. Hepatobiliary and cutaneous TB occurred in one patient each. Eight of 10 patients with disseminated or miliary TB died primarily of respiratory failure; six of these eight patients also had some form of extrapulmonary involvement. Using the Wilcoxon rank-sum test, there were significant differences in the mean SLE Disease Activity Index (SLEDAI) and Severity of Disease Index (SDI) scores between those with limited TB (SLEDAI 24 +/- 7 SD; SDI 19 +/- 18 SD) versus those with extensive TB (SLEDAI 41 +/- 16 SD; SDI 36 +/- 21 SD), P < .05. There was no significant difference in the average daily prednisone dose (mg) between those with limited TB (25 +/- 17 SD) versus those with extensive TB (31 +/- 16 SD). The contributory role of tuberculous infection in the morbidity and mortality of patients with SLE must be emphasized, especially in areas endemic for TB.     

Pneumonic tularemia in a patient with chronic granulomatous disease

We report the case of a 14-year-old boy with granulomatous pneumonia caused by Francisella tularensis. In addition, an autosomal recessive form of chronic granulomatous disease was diagnosed. Both F. tularensis and chronic granulomatous disease are associated with pulmonary granulomas. To our knowledge, this is the first report of F. tularensis infection in a patient with chronic granulomatous disease. The relationship between these two processes is discussed.     

Frequency of neoplasia in systemic lupus erythematosus and rheumatoid arthritis

A patient population admitted to the hospital for either SLE or RA was surveyed for the subsequent development of neoplasms. The frequency of neoplasm in SLE patients appeared to be exaggerated, whereas the frequency of subsequent neoplasm in rheumatoid patients was unexpectedly low. A paucity of nephritis in the SLE group was noted. Further reports are encouraged so that the magnitude of the risk of malignancy developing with immunosuppressive therapy can be more precisely ascertained.     

The molecular basis of chronic granulomatous disease

CGD is a rare inherited immunodeficiency syndrome, caused by the phagocytes' inability to produce (sufficient) reactive oxygen metabolites. This dysfunction is due to a defect in the NADPH oxidase, the enzyme responsible for the production of superoxide. It is composed of several subunits, two of which, gp91phox and p22phox, form the membrane-bound cytochrome b558, while its three cytosolic components, p47phox, p67phox and p40phox, have to translocate to the membrane upon activation. This is a tightly and intricately controlled process that involves, among others, several low-molecular weight GTP-binding proteins. Gp91phox is encoded on the X-chromosome and p22phox, p47phox and p67phox on different autosomal chromosomes, and a defect in one of these components leads to CGD. This explains the variable mode of inheritance seen in this syndrome. Clinically CGD manifests itself typically already at a very young age with recurrent and serious infections, most often caused by catalase-positive pathogens. Modern treatment options, including prophylaxis with trimethoprim-sulfamethoxazole and rIFN-gamma as well as early and aggressive anti-infection therapy, have improved the prognosis of this disease dramatically. CGD, as a very well-characterized inherited affection of the hematopoietic stem cells, is predestined to be among the first diseases to profit from the advances in cutting-edge therapeutics, such as gene therapy and in utero stem cell transplantation.     

Outpatient management with oral corticosteroid therapy for obstructive conditions in chronic granulomatous disease

We report the outpatient management of three patients with X-linked chronic granulomatous disease, two of whom had episodes of gastric outlet obstruction and another, urinary bladder obstruction. These obstructive conditions were successfully treated with 2-week courses of orally administered corticosteroids with or without the addition of orally administered clindamycin. There were no infectious or other adverse reactions.     

Genitourinary involvement in chronic granulomatous disease of childhood

A second case of symptomatic renal involvement of chronic granulomatous disease of childhood is reported, and all previous cases of documented genitourinary lesions in this disease are reviewed. Although frequent infections of other organ systems are a well recognized part of chronic granulomatous disease, involvement of the urinary tract has been rarely reported. The nature of the few cases described suggests that extensive insidious destruction occurs before urinary tract involvement is clinically suspected.     

Treatment with rhG-CSF for osteomyelitis in a patient with p47-phox-deficient chronic granulomatous disease

A 24-year-old woman with osteomyelitis was diagnosed as having p47-phox-deficient chronic granulomatous disease (CGD). The patient showed a marked deficiency of p47-phox, which is very rare in Japan. As the clinical response to various antibiotics including sulfamethoxazole-trimethoprim was not satisfactory, we added recombinant human granulocyte colony-stimulating factor (rhG-CSF) to the treatment protocol. We report the beneficial clinical course of the patient, together with the effect of rhG-CSF on the granulocyte function, and the present report indicates that rhG-CSF is useful for the treatment of antibiotic-resistant infection in the variant type of p47-phox-defective CGD.     

Cutaneous purulent aspergillosis in a young man with chronic granulomatous disease

We describe a case of cutaneous purulent aspergillosis in a 19-year-old man with chronic granulomatous disease (CGD) treated successfully with a 6-month regimen of itraconazole. The therapeutic effect of the drug was seen after 1 month of administration. Surgical treatment of the skin lesions, although first planned, was not necessary.     

Vascular changes of chronic lupus erythematosus. Electron microscopic studies

Vascular changes in the course of chronic lupus erythematosus were mainly characterized by a large, yet varying degree of proliferation of endothelial cells. In all cases examined the presence of tubular forms similar to paramyxoviruses was noted. The vascular basal membrane was noted to be either widened, segmentally separated or absent in places. Collagen fibres in these cases adhered directly to the endothelial cells. In the nuclei of endothelial cells of the infiltrate, "nuclear bodies" could be observed. In area surrounding capillaries oval concentrations of fibrilles 80 A in diameter were noticed.     

The autoantibody profile and disease activity in patients with systemic lupus erythematosus

Antinuclear antibodies are a group of autoantibodies which are typical for collagenous diseases. By means of the autoantibody profile different sub-groups of systemic lupus erythematosus (SLE) can be identified. This can serve as a certain prognostic factor of the affection. Patients with a negative antibody profile have fewer clinical and laboratory manifestations of SLE. Profile A (anti-dsDNA and/or anti-Sm has, as compared with patients with a negative antibody profile, more frequent organ manifestations. Patients with profile B (anti-RNP) have a higher frequency of Raynaud's phenomenon. Profile C (anti-Ro, anti-La) is characterized in particular by photosensitivity of the skin and secondary Sj?gren's syndrome. Profile D (antibodies against centromeres and/or Scl-70) are found in subjects with SLE with traits of scleroderma. Finally profile E (antibodies against histones) are found in SLE induced by drugs. In the submitted study in 28 patients with SLE autoantibodies anti-dsDNA, anti-DNP, extracted nuclear antibodies (ENA-Sm,Ro,La, histones, Sm/RNP, Scl-70) were evaluated and different subgroups of SLE were assessed. Attention was paid to their common characteristics and the activity of the disease. Associations of clinical activity of the disease expressed by the ECLAM index (European Consensus Lupus Activity Measurement) were tested as well as anti-dsDNA levels and also the association of the disease activity with C3 and C4 constituents of complement, CRP and circulating immunocomplexes in serum. Positivity of the antinuclear factor (ANF) was found in 21 patients, while in 7 subjects who were in clinical and laboratory remission, ANF was negative. A negative antibody profile was recorded in 9 patients, profile A was found in 13, 1 patient had profile B, and 4 patients had profile C. Antibody profile D was not found in the group. When using regression analysis and Pearson s correlation coefficient, correlations were found between anti-dsDNA values and the system ECLAM (r = 0.72, p < 0.01), anti-dsDNA and C3 levels (r = -0.59, p < 0.01), C4 (r = -0.50,, p < 0.01), and between the ECLAM system and C3 (r = -0.60, p 0.01) and C4 (r = -0.52, p < 0.01) and also between C3 and C4 mutually (r = 0.72, p < 0.01). From the submitted investigation ensues that investigation of antinuclear antibody levels in SLE is important not only for assessment of the diagnosis of the disease and its activity but also for assessment of the subgroups of the disease and for prediction of its development. As to other indicators of activity, assessment of the C3 and C4 constituents of complement is still important.     

Renal transplantation for end-stage renal disease caused by systemic lupus erythematosus nephritis

We have developed a panel of rabbit polyclonal antipeptide antibodies against the five human somatostatin receptor subtypes (hSSTR1-5) and used them to analyze the pattern of expression of hSSTR1-5 in normal human islet cells by quantitative double-label confocal fluorescence immunocytochemistry. All five hSSTR subtypes were variably expressed in islets. The number of SSTR immunopositive cells showed a rank order of SSTR1 > SSTR5 > SSTR2 > SSTR3 > SSTR4. SSTR1 was strongly colocalized with insulin in all beta-cells. SSTR5 was also an abundant isotype, being colocalized in 87% of beta-cells. SSTR2 was found in 46% of beta-cells, whereas SSTR3 and SSTR4 were relatively poorly expressed. SSTR2 was strongly colocalized with glucagon in 89% of alpha-cells, whereas SSTR5 and SSTR1 colocalized with glucagon in 35 and 26% of alpha-cells, respectively. SSTR3 was detected in occasional alpha-cells, and SSTR4 was absent. SSTR5 was preferentially expressed in 75% of SST-positive cells and was the principal delta-cell SSTR subtype, whereas SSTR1-3 were colocalized in only a few delta-cells, and SSTR4 was absent. These studies reveal predominant expression of SSTR1, SSTR2, and SSTR5 in human islets. Beta-cells, alpha-cells, and delta-cells each express multiple SSTR isoforms, beta-cells being rich in SSTR1 and SSTR5, alpha-cells in SSTR2, and delta-cells in SSTR5. Although there is no absolute specificity of any SSTR for an islet cell type, SSTR1 is beta-cell selective, and SSTR2 is alpha-cell selective. SSTR5 is well expressed in beta-cells and delta-cells and moderately well expressed in alpha-cells, and thereby it lacks the islet cell selectivity displayed by SSTR1 and SSTR2. Subtype-selective SSTR expression in islet cells could be the basis for preferential insulin suppression by SSTR1-specific ligands and of glucagon inhibition by SSTR2-selective compounds.     

Two cases of systemic lupus erythematosus associated with fatty liver and Basedow's disease

We present two cases of systemic lupus erythematosus (SLE) associated with both Basedow's disease and fatty liver. The first case is a 46-year-old Japanese female who was admitted because of high fever and general fatigue. She had been diagnosed as having Basedow's disease and treated with thiamazole for over 4 years. Since thiamazole-induced lupus was unlikely because of high titer anti-nuclear antibody and anti-DNA antibody and low levels of complements, a diagnosis of SLE was made. The upper abdominal ultrasound study and the specimen obtained by liver biopsy performed before initiating steroid therapy demonstrated marked fatty liver. SLE itself is considered as an etiology of fatty liver in this case. The second case was a 25-year-old Japanese female with SLE. She had been treated with prednisolone for 13 years and was complicated with Basedow's disease 10 years later. Fatty liver was also demonstrated in this patient on ultrasonography, and was thought to be resulted from long-term steroid hormone administration.     

Epidemiology and socioeconomic impact of skin disease in lupus erythematosus

The prevalence rates of systemic lupus erythematosus (SLE) may vary within 17-48/100,000 population worldwide. Although population-based epidemiological studies are still missing, the cutaneous variants of lupus erythematosus (LE) are 2-3 times more frequent than SLE itself. The most common age of onset is 20-40 y. Overall, cutaneous LE is regarded as a variant with less severe course and better prognosis. However, CDLE and SCLE last for many years and may lead, like SLE, to severe disability for work and limited life quality; also, a small proportion of patients with cutaneous LE develops SLE during the course of their disease. This implies considerable amount of medical management and costs for the community. Early recognition of cutaneous LE patients at risk to develop SLE and preventive measures against disease triggering factors are important tasks for physicians attending with cutaneous LE patients. It seems that signs of nephropathy, elevated ANA-titers and arthralgias may serve as prognostic predictors for transition into SLE. Characteristic features of cutaneous LE are photosensitivity and female predominance. UV light is a major environmental triggering factor in cutaneous LE. Skin lesions may be induced or preexistent lesions may exacerbate due to UV light in up to 80-90% of all patients. Therefore, socioeconomic counseling of the young patients, for example choice of occupation and sun protection, are essentials in compliant patients. Also, since females are 3-6 times more frequently affected than males, the possibility of hormonal influences including pregnancy and estrogen-containing drugs should be discussed. Risk considerations for females wishing to become pregnant are required, and avoidance of estrogen-containing contraceptives should be recommended.