Abstract Background: The Hand Mobility in Scleroderma (HAMIS) test was created to measure the degree of dysfunction of hand movements imposed by systemic sclerosis (SSc). The modified version (mHAMIS), with 4 of the 9 original items, was developed later. The goal of the present study was to translate and validate HAMIS and mHAMIS into Brazilian Portuguese and culture. Methods: After direct and reverse translation and comprehension test in 10 SSc patients, HAMIS-Br was applied to another 32 patients with SSc. To evaluate internal consistency, intraobserver and interobserver agreement, and intraobserver and interobserver reliability, we used respectively the Cronbach's α coefficient, kappa concordance and intraclass correlation (ICC). The correlation between HAMIS-Br and mHAMIS-Br was evaluated and a factorial analysis was performed. Results: HAMIS-Br showed excellent internal consistency (Cronbach's α = 0.997), good intraobserver agreement (kappa between 0.78 [95%CI =0.57-0.99] and 1) and intraobserver and interobserver reliability (ICC = 0.993, 95% CI = 0.973-0.993 and ICC = 0.994, 95% CI = 0.987-0.997, respectively). The mHAMIS-Br presented similar results and excellent correlation with HAMIS-Br (r = 0.923). The factorial analysis extracted three groups of questions that explain 84.4% of the total variance, and that can be understood through the influence of certain movements in the interpretation of others: [1] questions whose interpretation is influenced by the extension of the fingers, [2] questions whose interpretation is influenced by flexion of the fingers, [3] volar flexion of the fingers, with similar correlation with both other factors. Conclusions: HAMIS-Br and mHAMIS-Br showed good agreement, intraobserver and interobserver reliability, and internal validity. It is necessary to be attentive to the influence of certain limitations of movements in the interpretation of others.

FUNDAMENTOS: A esclerodermia é uma colagenose relativamente rara, cujo perfil de autoanticorpos está associado a diferentes manifestações clínicas. A prevalência de autoanticorpos na esclerodermia sofre influência racial e genética. OBJETIVO: Estudar a prevalência dos anticorpos anti-Scl-70, anticentrômero e anti-U1-RNP em pacientes com esclerodermia do sul do Brasil e verificar suas associações às manifestações clínicas. MÉTODOS: Estudo retrospectivo de análise de 66 pacientes com esclerodermia para presença de anti-Scl-70, anticentrômero (ACA) e anti-U1-RNP e de manifestações clínicas como: Raynaud, cicatrizes estelares, necrose digital, telangiectasias, calcinose, fibrose pulmonar, pleurites, pericardites, miocardiopatias, artralgias e artrites, grau de esclerose da pele, contraturas articulares e atritos de tendão, hipertensão pulmonar, manifestações esofágicas e crise renal. RESULTADOS: A prevalência do anti-Scl-70 foi de 17,8%, a do ACA, de 33,3%, e a do U1 RNP foi de 11,8 %. O anti-Scl-70 estava associado à forma difusa da doença (p=0,015), presença de miocardiopatias (p=0,016) e de cicatrizes estelares (p=0,05); o anticentrômero foi mais comum na forma limitada, embora sem significância estatística e mostrou-se protetor para as miocardiopatias (p=0,005). O anti-U1-RNP foi mais comum nas formas de superposição (p=0,0004). CONCLUSÃO: A prevalência e o perfil de associações clínicas dos autoanticorpos em esclerodermia de pacientes brasileiros assemelham-se aos da literatura mundial.

BACKGROUND: Scleroderma is a fairly rare connective tissue disease whose autoantibody profile is associated with different clinical manifestations. The prevalence of autoantibodies in scleroderma is influenced by race and genetics. OBJECTIVE: To study the prevalence of anti-Scl-70, anti-centromere (ACA) and anti-U1-RNP antibodies in patients with scleroderma in southern Brazil and verify their association with clinical manifestations of the disease. METHODS: A retrospective study involving 66 patients with scleroderma for the presence of anti-Scl-70, anti-centromere and anti-U1-RNP and of clinical manifestations such as Raynaud's phenomenon, digital micro scars, digital necrosis, telangiectasias, calcinosis, pulmonary fibrosis, pleuritis, pericarditis, cardiomyopathy, arthralgia and arthritis, skin sclerosis, joint contractures, tendon friction rubs, pulmonary hypertension, esophageal disorders and renal crisis. RESULTS: The prevalence of anti-Scl-70 was 17.8% , that of ACA was 33.3% and the prevalence of U1 RNP was 11.8%. Anti-Scl-70 was associated with the diffuse form of the disease (p = 0.015), presence of cardiomyopathies (p = 0.016) and digital micro scars (p = 0.05). Anti-centromere was more common in the limited form, although it was not statistically significant, and had a protective role associated with cardiomyopathies (p = 0.005). Anti-U1-RNP was more common in the overlap forms (p = 0.0004). CONCLUSION: The prevalence and profile of clinical associations of autoantibodies in Brazilian patients with scleroderma are similar to those found in the literature.

Tanto a esclerodermia como a doença celíaca são doenças de autoimunidade que causam diarreia. Como o agrupamento de doenças autoimunes em único indivíduo não é raro, é importante saber se um individuo com esclerodermia tem maiores chances de ter ou não doença celíaca. Para isso, estudaram-se 105 pacientes com esclerodermia e 97 controles saudáveis para o anticorpo EmA IgA. Não foi possível detectar presença aumentada de EmA IgA em pacientes com esclerodermia. Conclui-se que não existe necessidade de busca ativa de doença celíaca em pacientes com esclerodermia e diarreia, a menos que existam evidências clínicas claras da doença.

Both celiac disease and scleroderma have autoimmune etiology and affect the bowel causing diarrhea. As an association of autoimmune disease in a single individual is not rare, it is important to know if a patient with scleroderma may also have celiac disease. To analyze this we studied 105 scleroderma patients and 97 volunteers for IgA-EmA by indirect immunofluorescence assay. We could not find a higher prevalence of this autoantibody in scleroderma patients. The authors conclude that there is no need to screen scleroderma patients with diarrhea for celiac disease unless there is a clear clinical indication for this.

A síndrome de Sjögren (SS) primária é uma doença autoimune cujo espectro de manisfestação clínica estende-se desde um acometimento órgão-específico (exocrinopatia auto-imune) até um processo sistêmico. O envolvimento da pele é bastante comum, e a freqüência de doença vascular inflamatória é estimada entre 20% e 30%. Duas formas clínicas específicas de vasculite cutânea, a púrpura palpável e urticária crônica são predominantes, mas eritema multiforme, eritema perstans, eritema nodoso, mácula eritematosa e nódulo subcutâneo também já foram descritos. Os autores descrevem o caso de uma paciente de 46 anos, que desenvolveu quadro de síndrome de Sjögren primária, com manifestações oculares, orais, articulares e alterações laboratoriais (FAN, anti-Ro, fator reumatóide positivos, e hipergamaglobulinemia). Após dez anos do diagnóstico, apresentou úlceras em membro inferior, cuja biópsia confirmou tratar-se de lesão tipo vasculítica, com excelente resposta ao tratamento com ciclofosmida endovenosa. Foram descritos na literatura apenas dois relatos de caso de pacientes com úlceras em membros inferiores, como acometimento cutâneo da SS. Os autores ressaltam a importância do diferencial de úlceras em membros inferiores como acometimento cutâneo da SS primária.

Primary Sjögren's Syndrome (pSS) is an autoimmune disease with a large spectrum of clinical manifestations extending from an organ-specific involvement to a systemic process. The skin is affected quite commonly and the estimated frequency of inflammatory vascular lesions is from 20% to 30%. Two specific, clinically recognizable forms of cutaneous vasculitis predominate, palpable purpura and chronic urticaria, but erythema multiforme, erythema perstans, erythema nodosum, erithematous macules and subcutaneous nodules have also been described. The authors report the case of a 46-year-old female patient, diagnosed as primary SS, who presented ocular and oral symptoms, poliarthritis and laboratory alterations (with a positive ANA, anti-SSA, rheumatoid factor, and hypergammaglobulinemia). Ten years after the diagnosis, she presented leg ulcers. The biopsy confirmed the presence of vasculitic process, and the ulcers improved rapidly after the treatment with endovenous cyclophosphamide. There are only two reports of chronic ulceration of the legs as cutaneous manifestation of SS. The authors stress the importance of considering ulcers in the differential diagnosis of cutaneous involvement of primary SS.