Scleroderma/polymyositis overlap syndromes and their immunologic markers.
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Biomedical subjects
Publications and source records attributed to S Jablonska.
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The role of human papillomaviruses (HPVs) in the development of genital neoplasias has been well documented. The genomes of two HPV types, HPV16 and HPV18, have been found to be associated with about 70% of invasive carcinomas of the uterine cervix. As, under non-stringent hybridization conditions, HPV DNA sequences have been detected in about 90% of cervical carcinomas, it seems likely that additional HPV types are associated with these tumours. Here we report the molecular cloning and characterization of a novel HPV type, tentatively named HPV33, whose sequences have been detected in 4-8% of biopsies of genital intra-epithelial neoplasias and cervical invasive carcinomas, usually as free monomeric or oligomeric molecules. However, in one specimen of vulvar Bowen's disease, HPV33 DNA sequences were integrated in the host-cell genome. Thus, HPV33 probably represents an additional type of potentially oncogenic genital HPV.
Four patients are described with stone-hard indurations of the skin and subcutaneous tissue, predominantly on the buttocks and thighs, in the areas of the thickest fascia lata and glutealis. All cases were sporadic, started in early infancy, were only slightly or not progressive, and showed no visceral involvement or immunologic abnormalities. In all, the hallmark of the disease was strikingly enlarged fascia. In one patient, typical features developed progressively for 9 years, and in two patients the changes remained abortive, limited to some areas, and not symmetrical. The fourth patient showed some similarity to profound morphea with no cutaneous involvement. Recognition of atypical or abortive cases of congenital fascial dystrophy, which is probably a variant of heterogeneous stiff skin syndrome involving exclusively fascia, is of practical importance, since no therapy is required. However, intensive rehabilitation should start in early infancy and continue throughout life. The genetic defect of molecular organization of collagen in the fascia results in formation of giant amianthoid-like collagen fibrils.
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Despite significant clinical, histologic, immunopathologic and other differences between typical cases of dermatitis herpetiformis (DH) and bullous pemphigoid (BP), the differential diagnosis may be difficult. Our direct immunofluorescent studies in 59 cases of DH and 134 cases of BP indicate the diagnostic value of immunopathologic studies.
We present four cases of scleromyxedema with scleroderma-like cutaneous changes mimicking systemic sclerosis and stress the importance of their differentiation from true scleroderma. Scleromyxedema should be recognized as an entity since it differs from scleroderma in the pathogenesis, histopathology of cutaneous lesions, type of visceral involvement (if present), frequent association with paraproteinemia, the course and prognosis.
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We report a familial case of acrogeria in a mother and son, with characteristic cutaneous involvement and no clinical signs of vascular Ehlers-Danlos syndrome (former EDS type IV) in spite of some tendency to bruising. The biochemical and molecular studies did not disclose any abnormality of collagen type III, which favours the diagnosis of acrogeria. It appears that recognition of acrogeria as an entity is of clinical significance since these cases are not associated with systemic involvement, and specifically with rupture of vessels and internal organs, occasionnally occurring in EDS.
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