High titers of antibodies to single-stranded DNA in linear scleroderma

Falanga, Vincent

doi:10.1001/archderm.121.3.345

Cited by 52 publications

(23 citation statements)

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“…The overall ANA prevalence of 34% in the present study was within the range of previous reports (18%–68%), 5–7,14–21 although it is lower than that seen in the 2 largest prior studies. 5,6 In 1987, Falanga et al 6 reported presence of ANAs in 11 of 22 patients (50%) of all ages with either “generalized morphea” or “morphea,” with the latter described as having circumscribed lesions, which likely represented plaque morphea as defined by Zulian et al 1 In 2008, Arkachaisri et al 5 investigated 72 patients with adult- and childhood-onset linear morphea and found ANAs present in 68%.…”

Section: Discussionsupporting

confidence: 81%

Morphea in Adults and Children Cohort III

Dharamsi¹,

Victor²,

Aguwa³

et al. 2013

JAMA Dermatol

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IMPORTANCE Small studies have implicated the association of specific autoantibodies with morphea subtype or severity, but no large-scale studies have been conducted. This prospective case-control study confirmed the presence of antinuclear antibodies (ANAs) and other autoantibodies in morphea but found they are of limited significance. OBJECTIVE To determine the prevalence of ANAs, extractable nuclear antigens such as antihistone antibodies (AHAs), and anti–single-stranded DNA antibodies (ssDNA abs) in patients with morphea vs a healthy control population and their association with clinical measures of morphea severity. DESIGN, SETTING, AND PARTICIPANTS Nested case-control study, conducted at the University of Texas Southwestern Medical Center, Dallas, and University of Texas Health Science Center, Houston. Study participants included individuals enrolled in the Morphea in Adults and Children (MAC) cohort and Scleroderma Family Registry and DNA Repository. MAIN OUTCOMES AND MEASURES Prevalence of ANAs, AHAs, ssDNA abs in patients with morphea vs matched controls and association of the presence of autoantibodies with clinical indicators of morphea severity. RESULTS The prevalence of ANAs, AHAs, and ssDNA abs in patients with morphea was 34%, 12%, and 8%, respectively. Antinuclear antibodies and AHAs, but not ssDNA abs, were present more frequently in cases than in controls. There was no difference in ANA prevalence among morphea subtypes. Among patients with linear morphea, the presence of autoantibodies was associated with clinical indicators of severe morphea including functional limitation (ssDNA ab, P = .005; and AHA, P = .006), extensive body surface area involvement (ssDNA ab, P = .01; and ANA, P = .005), and higher skin scores (ANA, P = .004). The presence of autoantibodies was not associated with clinical measures of morphea activity. CONCLUSIONS AND RELEVANCE Our results demonstrate that ANAs and AHAs are more prevalent among patients with morphea but are of limited clinical utility except in linear morphea, where their presence, although infrequent, is associated with greater lesion burden and functional impairment.

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Section: Discussionsupporting

confidence: 81%

Morphea in Adults and Children Cohort III

Dharamsi¹,

Victor²,

Aguwa³

et al. 2013

JAMA Dermatol

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“…Studies to date implicate that morphea is an immunologically mediated disease due to its association with other autoimmune disorders (2, 3) and the presence of autoantibodies including ANA (4–6) with greater frequency than expected in comparison to a healthy population. Further, studies examining the histopathological changes in morphea have identified an inflammatory cell infiltrate composed of T and B lymphocytes, plasma cells, and plasmacytoid dendritic cells (7).…”

Section: Introductionmentioning

confidence: 99%

Major Histocompatibility Complex Class I and Class II Alleles May Confer Susceptibility to or Protection Against Morphea: Findings From the Morphea in Adults and Children Cohort

Jacobe

Ahn

Arnett

et al. 2014

Arthritis & Rheumatology

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Objective To determine human leukocyte antigen class I (HLA-class I) and II (HLA-class II) alleles associated with morphea (localized scleroderma) in the Morphea in Adults and Children (MAC) cohort by a nested case–control association study. Methods Morphea patients were included from MAC cohort and matched controls from the NIH/NIAMS Scleroderma Family Registry and DNA Repository and Division of Rheumatology at the University of Texas Health Science Center at Houston. HLA- Class II genotyping and SSCP typing was performed of HLA-A, -B, -C alleles. Associations between HLA-Class I and II alleles and morphea as well as its subphenotypes were determined. Results There were 211 cases available for HLA-class I typing with 726 matched controls and 158 cases available for HLA Class-II typing with 1108 matched controls. The strongest associations were found with DRB1*04:04 (OR 2.3, 95% CI 1.4–4.0 P=0.002) and HLA-B*37 conferred the highest OR among Class I alleles (3.3, 95% CI 1.6–6.9, P= 0.0016). Comparison with risk alleles in systemic sclerosis determined using the same methods and control population revealed one common allele (DRB*04:04). Conclusion Results of the present study demonstrate specific HLA Class I and II alleles are associated with morphea and likely generalized and linear subtypes. The associated morphea alleles are different than in scleroderma, implicating morphea is also immunogenetically distinct. Risk alleles in morphea are also associated with conditions such as rheumatoid arthritis (RA) and other autoimmune conditions. Population based studies indicate patients with RA have increased risk of morphea, implicating a common susceptibility allele.

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“…Several authors have found abnormal serum levels of ANA, RF and other autoimmunologic factors in a percentage ranging from 15 % to 50-74% of patients with localized scleroderma; a subgroup, tested with high sera levels of ANA and other factors, is likely to be affected by multifocal and/or more severe and widespread involvement of skin and underlying tissues and has a low risk of developing systemic lupus erythematosus, progressive systemic sclerosis, dermatomyositis or other generalized collagen-vascular disease [25,32,44,84,92].…”

Section: Discussionmentioning

confidence: 99%

Progressive hemifacial atrophy: historical review and actual features related to a new classification of facial hypoplasia and atrophy

et al. 1994

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progressive hemifacial atrophy, described initially by Parry and Romberg, is reviewed in terms of etiopathogenesis and clinical features. The purpose is to clarify the variegated nature of this syndrome and to distinguish it from other forms of atrophy affecting the face, principally the soft tissues. The authors propose a new general classification of hypoplasia and atrophy of the face.Progressive hemifacial atrophy (PHA) is an acquired syndrome affecting peculiarly the subcutaneous fatty tissue together with skin, mimic musculature, bone and cartilage in that order of frequency. The etiology is unknown but neurodystrophic and sclerodermic theories have been suggested. The incidence in the population is at present unknown. Female/male ratio is 3 : 2 according to Rogers, while Archambault and Fromm, Mussinelli et al. and Rees reported ratios less than 1.2:1. Other authors, mainly in early papers, reported a very high occurrence in women [2,56,71,73]. Nerobyeyev et al., in 1990, noted a ratio higher than 4:1 [59]. The left side of the face is not significantly more affected than the right side; bilateral incidence is almost 5% [56, 72], but according to Rees bilateral involvement in Scleroderma or Romberg's atrophy is "'more unique than rare" [71]. The disease starts in the first or second decade of life (mean age: 5 15 yrs. ; range of 1-70 yrs.); and progresses slowly for 2-10 yrs. with long periods of remission. HistoryThe clinical features were described by Parry and Romberg [64,74]. It was called "progressive facial hemiCorrespondence to .' Dr. R. Roddi,

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High titers of antibodies to single-stranded DNA in linear scleroderma

Cited by 52 publications

References 0 publications

Morphea in Adults and Children Cohort III

Morphea in Adults and Children Cohort III

Major Histocompatibility Complex Class I and Class II Alleles May Confer Susceptibility to or Protection Against Morphea: Findings From the Morphea in Adults and Children Cohort

Progressive hemifacial atrophy: historical review and actual features related to a new classification of facial hypoplasia and atrophy

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