Congenital localized scleroderma

OBJECTIVES: Juvenile localized scleroderma (JLS) usually has its onset during later childhood. This report describes the clinical and serologic features of six children with congenital localized scleroderma (CLS). STUDY DESIGN: A large, multinational study was conducted among pediatric rheumatology and dermatology centers by collecting information on demographics, family history, triggering environmental factors, clinical features, laboratory reports, and treatment of patients with JLS. Patients with onset at birth were carefully examined. RESULTS: Among 750 patients with JLS, 6 patients (0.8%) had scleroderma-related lesions at birth. Female-to-male ratio was 2:1. All patients had linear scleroderma, in four involving the face with en coup de sabre appearance. Two patients were misdiagnosed as having skin infection, one nevus, one salmon patch, and two undefined skin lesions. The mean diagnostic delay was 3.9 years. In comparison with the group of 733 patients with late-onset JLS, CLS presented a significantly more prolonged disease duration at diagnosis and a higher frequency of en coup de sabre subtypes. CONCLUSIONS: Congenital localized scleroderma is a rare and probably underestimated condition in neonates. The linear subtype was the exclusive manifestation of the disease. CLS should be included in the differential diagnosis of infants with cutaneous erythematous fibrotic lesions to avoid functional and aesthetic sequelae and to allow prompt therapy

The pediatric rheumatology European Society American College of Rheumatology European league against rheumatism provisional classification criteria for juvenile systemic sclerosis

OBJECTIVE: To develop criteria for the classification of systemic sclerosis (SSc) in children (juvenile SSc). METHODS: The study consisted of 3 phases: 1) collection of data on the signs and symptoms of actual patients with juvenile SSc that are useful for defining involvement of a particular organ; 2) selection of the parameters essential for the classification of juvenile SSc and preparation of a set of provisional classification criteria (PCC) using 2 Delphi surveys; 3) consensus conference consisting of 2 steps: discussion and rating of clinical profiles of 160 patients with definite juvenile SSc, possible juvenile SSc, or other fibrosing diseases as "having or not having juvenile SSc," using nominal group technique, and defining those PCC with the best statistical performance and highest face validity by using the clinical profiles of patients with definite juvenile SSc as the gold standard. RESULTS: In phase 1, 55 centers submitted clinical data on 153 patients with juvenile SSc. A total of 48 signs and symptoms were derived from these patient data and were used to define 9 organ system categories (cutaneous, vascular, gastrointestinal, respiratory, renal, cardiac, neurologic, musculoskeletal, and serologic). During phase 2, these were reduced to 21 criteria (3 major criteria [Raynaud's phenomenon, proximal skin sclerosis/induration of the skin, and sclerodactyly] and 18 minor criteria) and combined to generate 86 different PCC. At the consensus conference, these 86 definitions were tested on the case profiles of 127 patients with juvenile SSc. The PCC with the highest ranking were proximal sclerosis/induration and at least 2 minor criteria. CONCLUSION: These provisional classification criteria for juvenile SSc will help standardize the conduct of clinical research, epidemiologic and outcome studies, and therapeutic trials

Validation of the Portuguese Simple Measure of Impact of Lupus Erythematosus in Youngsters (SMILEY) in Brazil

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)Background and Objective: Simple Measure of the Impact of Lupus Erythematosus in Youngsters (SMILEY) is a health-related quality of life (HRQOL) assessment tool for pediatric systemic lupus erythematosus (SLE), which has been translated into Portuguese for Brazil. We are reporting preliminary data on cross-cultural validation and reliability of SMILEY in Portuguese (Brazil). Methods: In this multi-center cross-sectional study, Brazilian children and adolescents 5-18 years of age with SLE and parents participated. Children and parents completed child and parent reports of Portuguese SMILEY and Portuguese Pediatric Quality of Life Inventory (PedsQL (TM)) Generic and Rheumatology modules. Parents also completed the Childhood Health Assessment Questionnaire (CHAQ). Physicians completed the SLE disease activity index (SLEDAI), Physician's Global Assessment of disease activity (PGA) and Systemic Lupus Erythematosus International Collaborating Clinics ACR Damage Index (SDI). Results: 99 subjects (84 girls) were enrolled; 93 children and 97 parents filled out the SMILEY scale. Subjects found SMILEY relevant and easy to understand and completed SMILEY in 5-15 minutes. Brazilian SMILEY was found to have good psychometric properties (validity and reliability), and the child-parent agreement was moderate. Conclusion: SMILEY may eventually be used routinely as a research/clinical tool in Brazil. It may be also adapted for other Portuguese-speaking nations offering critical information regarding the effect of SLE on HRQOL for children with SLE. Lupus (2013) 22, 190-197.222190197Arthritis Foundation Investigator AwardFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)Federico FoundationNucleo de Apoio a Pesquisa "Saude da Crianca e do Adolescente" da USP (NAP-CriAd)Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)FAPESP [FAPESP 2008/02917-0]CNPq [300447/2009-4]CNPq [301644/2010-1]FAPESP [2008/58238-4, 2011/12471-2]CNPq [302724/2011-7

Juvenile localized scleroderma: clinical and epidemiological features in 750 children. An international study

Objective. Juvenile localized scleroderma (JLS) includes a number of conditions often grouped together. With the long-term goal of developing uniform classification criteria, we studied the epidemiological, clinical and immunological features of children with JLS followed by paediatric rheumatology and dermatology centres.Methods. A large, multicentre, multinational study was conducted by collecting information on the demographics, family history, triggering environmental factors, clinical and laboratory features, and treatment of patients with JLS.Results. Seven hundred and fifty patients with JLS from 70 centres were enrolled into the study. the disease duration at diagnosis was 18 months. Linear scleroderma (LS) was the most frequent subtype (65%), followed by plaque morphea (PM) (26%), generalized morphea (GM) (7%) and deep morphea (DM) (2%). As many as 15% of patients had a mixed subtype. Ninety-one patients (12%) had a positive family history for rheumatic or autoimmune diseases; 100 (13.3%) reported environmental events as possible trigger. ANA was positive in 42.3% of the patients, with a higher prevalence in the LS-DM subtype than in the PM-GM subtype. Scl70 was detected in the sera of 3% of the patients, anticentromere antibody in 2%, anti-double-stranded DNA in 4%, anti-cardiolipin antibody in 13% and rheumatoid factor in 16%. Methotrexate was the drug most frequently used, especially during the last 5 yr.Conclusion. This study represents the largest collection of patients with JLS ever reported. the insidious onset of the disease, the delay in diagnosis, the recognition of mixed subtype and the better definition of the other subtypes should influence our efforts in educating trainees and practitioners and help in developing a comprehensive classification system for this syndrome.Univ Padua, Dipartimento Pediat, I-35128 Padua, ItalyAI Du Pont Hosp Children, Wilmington, de USAHosp Sick Children, Toronto, ON M5G 1X8, CanadaMayo Clin, Rochester, MN USAInst Puericultura & Pediat Martagao Gesteira, Rio de Janeiro, BrazilUniv Texas, Dept Pediat, Dallas, TX 75230 USAHosp Gen Ninos Pedro de Elizalde, Buenos Aires, DF, ArgentinaChildrens Hosp, Columbus, OH 43205 USASophia Childrens Univ Hosp, Erasmus MC, Rotterdam, NetherlandsCardinal Glennon Childrens Hosp, St Louis, MO USAUniv Kansas, Med Ctr, Kansas City, KS 66103 USAHosp Univ La Paz, Madrid, SpainUniversidade Federal de São Paulo, São Paulo, BrazilIRCCS Burlo Garofalo, Trieste, ItalyUniv São Paulo, Inst Crianca, Pompeia São Paulo, BrazilAk Eilbek, São Paulo, BrazilMeir Med Ctr, Kefar Sava, IsraelHosp Sor Maria Ludovica, Buenos Aires, DF, ArgentinaFac Med Botucatu, São Paulo, BrazilGreat Ormond St Hosp Children, London WC1N 3JH, EnglandDermatol Clin, Padua, ItalyUniversidade Federal de São Paulo, São Paulo, BrazilWeb of Scienc