[Clinical features of systemic sclerosis and association with antitopoisomerase-1 antibody and centromere pattern of antinuclear antibody]. / Características clínicas da esclerose sistêmica e associação ao anticorpo antitopoisomerase-1 e padrão centrómero do anticorpo antinuclear.

OBJECTIVE: To describe clinical features of patients with systemic sclerosis (SSc) and associate them with antitopoisomerase-1 antibody and centromere pattern of antinuclear antibody. METHODS: We evaluated 50 patients who met SSc screening criteria of the American College of Rheumatology, and classified as limited cutaneous SSc and diffuse cutaneous SSc. Clinical history, physical examination and laboratory tests were evaluated: cutaneous, vascular, gastrointestinal, renal, pulmonary and cardiac involvement, in addition to autoantibodies. The continuous quantitative variables, discrete quantitative and categorical variables were evaluated employing the relevant statistical tests. A P value ≤ 0.05 was considered statistically significant. RESULTS: The authors found that 88% of the patients were women, and 70% of the cases corresponded to the limited cutaneous form. The skin thickening assessed by the modified Rodnan skin score found as minimum of 3, and a maximum of 32, and median of 14. Raynaud's phenomenon was found in 100% of patients, skin ulcers in 56%, esophageal symptoms in 80%, interstitial lung disease in 44%, and increase in right ventricular systolic pressure in18% of the patients. Antinuclear antibodies were found in 80%, the centromere pattern in 34% and antitopoisomerase-1 in 22% of the patients. We found that 88.2% of patients with centromere pattern antinuclear antibody had limited cutaneous SSc, while 72.7% of patients with topoisomerase-1 antibodies had diffuse cutaneous SSc. CONCLUSION: The clinical features of this population of patients with SSc are similar to results in the literature, as well as the association with the autoantibodies evaluated.

[Skin manifestation in systemic sclerosis]. / Manifestações cutâneas na esclerose sistêmica.

OBJECTIVE: To assess cutaneous manifestations in a population of patients with systemic sclerosis (SSc). METHOD: The study population was constituted by 50 patients with a diagnosis of SSc, according to the classification criteria for SSc established by the American College of Rheumatology. According to the criteria proposed by LeRoy and cols., the disease was classified as diffuse SSc, or limited SSc, depending on the extent of skin involvement. Through history and physical exam the following variables were assessed: skin sclerosis, Raynaud's phenomenon, digital pitting scars, ischemic ulcers, telangiectasia, leucomelanoderma, microstomy, calcinosis and pruritus. RESULTS: In the study population, 88% were women, with a mean age of 52.3+/-12.4 years. Limited SSc was the most frequent subset, being present in 70% of the evaluated patients. We found Raynaud's phenomenon in 100% of the patients, telangiectasia in 94%, leucomelanoderma in 38%, pruritus in 50%, calcinosis in 40%, microstomy in 62%, digital scars in 66% and ischemic ulcers in 58%. The modified Rodnan skin score values ranged from 3 to 32, with a median of 14, and percentile 25 of 9 and percentile 75 of 17.75. CONCLUSION: Cutaneous manifestations are very common in ES, being responsible for important limitations on daily activities and stigmatization of patients.

Doença de Camurati-Engelmann: relato de caso / Camurati-Engelmann disease: case report

Objetivos: Fornecer informações sobre a doença de Camurati-Engelmann, também conhecida como displasia diafisária progressiva, possibilitando o seu diagnóstico pelo profissional de saúde. Método: Relato de caso associado à revisão da literatura científica sobre o tema. Discussão: Doença rara, de herança autossômica dominante, caracterizada por hiperostose progressiva com envolvimento das diáfises dos ossos. Os sintomas mais comuns são dores em extremidades, alteração da deambulação, fatigabilidade e fraqueza muscular. Seu diagnóstico é clínico-radiológico. O tratamento consiste basicamente na administração de glicocorticóides e anti-inflamatórios não esteroidais para melhorar os sintomas clínicos como dor e fadiga...

Goals: To provide information about Camurati-Engelmann disease, also known as progressive diaphyseal dysplasia, allowing its diagnosis by a healthcare professional. Methods: A case report associated with literature review. Discussion: It is a rare, autosomal dominant type, disease characterized by progressive hyperostosis involving the diaphysis of bones. The most common clinical symptoms are pain in extremities, waddling gait, fatigability and muscle weakness, the diagnosis may be determined by clinical and radiological data. Treatment involves basically glucocorticosteroids and non-steroid anti-inflammatory administration to promote improvement in clinical symptoms such as pain and fatigue...