RESUMO
Gingival fibromatosis can be present as an isolated form or be part of a genetic disease. The Zimmermann-Laband syndrome (ZLS) is a rare disorder inherited as an autosomal dominant fashion, clinically characterized by gingival fibromatosis, bulbous soft nose, thick floppy ears, nail dysplasia, joint hyperextensibility, hepatosplenomegaly, skeletal anomalies and occasional mental retardation. We studied a girl aged five years with clinical and radiological features of the ZLS, additionally she presented deafness not previously described in the ZLS, as only partial hearing loss was reported in some patients. The father presented some facial features suggestive of ZLS, nevertheless he did not have gingival fibromatosis or hypertrichosis. We suggest that this case supports that ZLS can be part a contiguous genes syndrome or be consequence ofa gene mutation with wide variable expression. The present report supports that ZLS has a wide clinical spectrum.
Assuntos
Anormalidades Múltiplas , Aberrações Cromossômicas , Anormalidades Craniofaciais , Fibromatose Gengival , Deformidades Congênitas da Mão , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/genética , Criança , Anormalidades Craniofaciais/diagnóstico , Anormalidades Craniofaciais/genética , Surdez/diagnóstico , Surdez/genética , Diagnóstico Diferencial , Feminino , Fibromatose Gengival/diagnóstico , Fibromatose Gengival/genética , Expressão Gênica/genética , Genes Dominantes/genética , Deformidades Congênitas da Mão/diagnóstico , Deformidades Congênitas da Mão/genética , Humanos , FenótipoRESUMO
The purpose of this study was to evaluate the frequency of seric antibodies against cyclic citrullinated peptide (a-CCP) in patients tested for rheumatoid factor (RF) reactivity, and to analyze the correlation between their titers. We obtained serum from 112 consecutive patients (85 female), aged 47.2 +/- 13.4 years and from 46 clinically healthy subjects (CHS). Patients where stratified into four subgroups: rheumatoid arthritis (RA), probable RA (PRA), spondylarthropathies and other diagnosis. The a-CCP antibodies were determined by enzyme linked immunoassay (ELISA), RF by nephelometric test (IgM) and ELISA (IgG and IgM). Analysis of variance (ANOVA) showed statistically that a-CCP antibodies differs among RA versus CHS and other diagnosis; PRA versus CHS and other diagnosis. A significant Rho value of 0.84 (P < 0.05, Spearman's correlation) was identified between a-CCP antibodies and RF in PRA subgroup. When a correlation of a-CCP antibodies with RF (both isotypes) was done, the higher correlation was observed against IgM RF. The data suggests different pathways and times for each antibody generation.
