Rosemarie Watson

Clinical expression of systemic lupus erythematosus in patients with C4A deficiency.

We studied 121 patients with systemic lupus erythematosus (SLE), of whom 119 were complement typed. Both black and white patients with SLE were more likely than racially matched controls to have a C4A null allotype. Patients with homozygous C4A deficiency had less proteinuria than other patients (p = 0.02) and both homozygous and heterozygous C4A-deficient patients (p = 0.05) had fewer seizures than other patients. Anti-dsDNA, anti-Sm, anti-Ro, and anticardiolipin antibodies were less common in patients with homozygous C4A deficiency, with heterozygous C4A-deficient patients intermediate in frequency between homozygous C4A-deficient and normal patients with SLE. Both homozygous and heterozygous C4A-deficient patients (p < 0.005) had higher C3 levels than other patients, and heterozygous C4A-deficient patients had higher, not lower, C4 levels (p < 0.002), compared with non-C4A-deficient patients. C4A gene deletion was found in 23.4% of patients. C4A gene deletion was associated with subacute cutaneous lupus erythematosus (p = 0.04) and Sjögren syndrome (p = 0.02) in patients with SLE. Both anti-dsDNA (p = 0.04) and anticardiolipin (p = 0.04) were found less frequently in patients with C4A gene deletion. Patients with C4A gene deletion had lower C4 levels than patients with C4A deficiency from other mechanisms. We conclude that the presence of 1 or 2 C4A null allotypes and the presence of a C4A gene deletion identify subgroups of patients with SLE that differ in clinical, laboratory, and autoantibody characteristics from other patients with SLE.

Significance of the anti-Ro(SS-A) antibody in evaluation of patients with cutaneous manifestations of a connective tissue disease☆☆☆

The anti-Ro(SS-A) antibody is arguably the most important antibody determination except for antinuclear antibodies in evaluation of patients suspected of having lupus erythematosus. During the past 25 years, studies have established the importance of this antibody in the evaluation of patients with atypical lupus erythematosus, who have a photosensitive dermatitis as the presenting sign. The purpose of this review is to demonstrate the utility and the necessity of this antibody determination in the evaluation of all patients with cutaneous manifestations who are suspected of having a connective tissue disease.

Cutaneous lesions in systemic lupus erythematosus

The spectrum of cutaneous lesions seen as a presenting feature or during the clinical course of systemic lupus erythematosus is described. Readers are acquainted with the histopathologic features, serologic associations, and pathogenesis when appropriate. Prognostic implications of individual cutaneous manifestations are also addressed.

Subacute cutaneous lupus erythematosus-immunogenetic associations

Thirty-two patients who fulfilled criteria for subacute cutaneous lupus erythematosus (SCLE) were examined for their immunogenetic associations. Our results confirm the previously reported association of HLA-DR3 (15/31 48% P less than 0.01) and also demonstrate an increase in HLA-DR2 (14/31, 45%, P = less than 0.05). These findings indicate there are two distinct immunogenetic (HLA) populations of Ro(SS-A) antibody-positive SCLE patients. The increased frequency of HLA-DR2 and DR3 appears to be associated with expression of the Ro(SS-A) antibody, since no HLA associations were seen in Ro(SS-A)-negative SCLE patients when compared with normal population controls. Furthermore, these data indicate that the distinctive cutaneous lesions of SCLE are not associated with one specific HLA allele, as previously suspected. These findings contrast with the relatively homogeneous immunogenetic background seen in other lupus erythematosus subsets with a high frequency of Ro(SS-A) antibody, i.e., neonatal lupus erythematosus and Sjögrens syndrome/lupus erythematosus overlap (increased frequency of HLA-DR3, DQw2 and DRW52).

Cutaneous manifestations of the eosinophilia–myalgia syndrome

Summary We report the cutaneous manifestations of the eosinophilia–myalgia syndrome in 10 patients, with specific reference to their clinical course, histopathological features, and immunogenetic studies. Cutaneous manifestations could be classified into three groups: morphoea‐like sclerosis, urticarial and papular lesions, and generalized sclerosis. Despite this polymorphic clinical presentation, the histopathological abnormalities in all cases were strikingly similar, and consisted of superficial and deep perivascular lymphocytic dermal infiltrates, mucin deposition, and fascial inflammation (often in the absence of sclerosis). Immunoperoxidase studies revealed increased numbers of factor XIIIa‐ and MAC 387‐positive cells in the inflammatory infiltrate. Immunogenetic studies demonstrated that 77% (7/9) of patients possessed the HLA‐DR3 or HLA‐DR4 phenotypes. Mean follow‐up of 24 months after discontinuation of l‐tryptophan revealed the presence of persistent severe disabling disease in 30% of patients.