Linear Scleroderma with Hemiatrophy: Report of Three Cases Associated with Collagen-Vascular Disease

Tuffanelli, Denny L.; Marmelzat, Willard L.; Dorsey, Clete S.

doi:10.1159/000254396

Cited by 48 publications

(15 citation statements)

References 4 publications

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“…Although the combination of FH and SS was also reported by Tuffanelli and Marmelzat [ 1 ], the illness in their case appears to be SS associated with linear scleroderma. The present case is a combination of FH and the acrosclerotic type of SS.…”

Section: Commentsupporting

confidence: 49%

Facial Hemiatrophy in a Patient with Systemic Scleroderma

Nomura¹,

Yagihashi²,

Chiyoya³

et al. 1984

Dermatology

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Section: Commentsupporting

confidence: 49%

Facial Hemiatrophy in a Patient with Systemic Scleroderma

Nomura¹,

Yagihashi²,

Chiyoya³

et al. 1984

Dermatology

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“…The underlying muscle and bone are frequently affected. Clinical and serological features of systemic connective tissue disease often occur (22). We have shown that a 24-year-old female patient with linear scleroderma possesses a hightiter antiserum against the nuclear envelope.…”

Section: Discussionmentioning

confidence: 97%

Autoimmune response directed against conserved determinants of nuclear envelope proteins in a patient with linear scleroderma.

McKeon¹,

Tuffanelli²,

Fukuyama³

et al. 1983

Proc. Natl. Acad. Sci. U.S.A.

113

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We have studied the autoantibodies in the serum of a patient with linear scleroderma that specifically recognize the nuclear envelope of cultured cells. These antibodies bind to conserved determinants of nuclear lamins, the predominant mammalian nuclear envelope proteins. Of the three mammalian nuclear lamin proteins (P70, P68, and P60), only P70 and P60 bind the autoantibodies. In addition, two proteins of the Drosophila embryonic nuclear matrix, P70 and P68, bind these autoantibodies. We have used nuclear matrices to isolate the autoantibodies from the patient's serum that react to the nuclear lamins. At least three different IgG heavy chains were found to be involved in this autoimmune response to nuclear lamins, indicating that this response is not due to the expansion of a single B-cell clone.A strong correlation exists between systemic rheumatic diseases and the presence of circulating autoantibodies to proteinnucleic acid complexes (1). The targets of these autoantibodies include nuclear ribonucleoprotein particles (2), nucleosomes (3), nucleoli (4), kinetochores (5), and others. The range of targets for particular disease syndromes are often limited; for example, systemic lupus erythematosis is often associated with autoantibodies to nuclear ribonucleoprotein particles (2), whereas most scleroderma CREST patients produce autoantibodies to centromeric regions of chromosomes (kinetochores; ref. 5). Surprisingly, little is known of the autoimmune responses or their targets on a molecular level.In an attempt to associate the immunofluorescence pattern of sera from patients with specific autoimmune diseases, we discovered a high-titer serum directed against the nuclear envelope in a patient with linear scleroderma. We designate this serum as LS-1. We have chosen here to characterize this autoimmune response more precisely by identifying the antigens recognized by this serum and by determining the nature and complexity of the antibody response. We have found that this autoimmune response is polyclonal and directed against two of the three predominant polypeptides of the nuclear envelope, known as nuclear lamins (6).Using immunofluorescence and immunotransfers of NaDodSO4 gels, we also have detected nuclear lamins in Drosophila melanogaster embryonic nuclear matrices. This demonstrates that nuclear lamins are present in invertebrates and that these autoantibodies from LS-1 serum must be directed against highly conserved determinants. at 26°C in Echalier's medium (7).Immunofluorescence Microscopy. CHO and Kc cells were grown on glass coverslips (12-mm diameter, Corning), fixed in 1% formaldehyde in phosphate-buffered saline (Pi/NaCl) for 5 min at 22°C, and made permeable to antibodies by washing in 0.1% Triton X-100 (Sigma) in Pi/NaCl. The cells were first exposed to LS-1 serum diluted 1:200 and subsequently to a rhodamine-conjugated goat anti-human IgG (Cappel Laboratories, Cochranville, PA). Cells were photographed with a Zeiss photomicroscope with a X 100 planapo objective.Immunohistochemical Microsc...

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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%

“…Christianson et al reported 38 cases of hemifacial atrophy in a study of 235 cases of localized scleroderma and observed a high incidence of anomalies of the central nervous system, suggested a relationship between scleroderma and neuropathic heredity or an indication of a neurovegetative disease in accordance with Wartenberg [16,88]. Also Tuffanelli et al, despite including PHA in localized scleroderma, believed that linear scleroderma could be a developmental anomaly excluding those cases with concurrent collagen-vascular diseases [84].…”

Section: Sclerodermic Hypothesismentioning

confidence: 99%

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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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Linear Scleroderma with Hemiatrophy: Report of Three Cases Associated with Collagen-Vascular Disease

Cited by 48 publications

References 4 publications

Facial Hemiatrophy in a Patient with Systemic Scleroderma

Facial Hemiatrophy in a Patient with Systemic Scleroderma

Autoimmune response directed against conserved determinants of nuclear envelope proteins in a patient with linear scleroderma.

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

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