RESUMO
BACKGROUND: Mandibular coronoid hyperplasia is a rare condition associated with gradual reduction in mouth opening. Its aetiology is unknown but increased temporalis activity, endocrine stimulus, trauma and familial causes have been proposed. CASE REPORT: In this article, we present a case of bilateral coronoid hyperplasia presenting with limited mouth opening in 16-year-old Caucasian twin sisters. DISCUSSION: This report gives a new perspective to the aetiology of coronoid hyperplasia since it describes its occurrence in monozygotic twins and hence provides a strong argument in support of a genetic aetiology.
Assuntos
Doenças em Gêmeos/genética , Doenças Mandibulares/genética , Transtornos da Articulação Temporomandibular/genética , Articulação Temporomandibular/patologia , Trismo/genética , Gêmeos Monozigóticos/genética , Adolescente , Doenças em Gêmeos/diagnóstico por imagem , Doenças em Gêmeos/patologia , Doenças em Gêmeos/cirurgia , Feminino , Humanos , Hiperplasia , Imageamento Tridimensional , Má Oclusão Classe II de Angle/diagnóstico por imagem , Má Oclusão Classe II de Angle/genética , Doenças Mandibulares/diagnóstico por imagem , Doenças Mandibulares/patologia , Doenças Mandibulares/cirurgia , Articulação Temporomandibular/diagnóstico por imagem , Articulação Temporomandibular/cirurgia , Transtornos da Articulação Temporomandibular/diagnóstico por imagem , Transtornos da Articulação Temporomandibular/patologia , Transtornos da Articulação Temporomandibular/cirurgia , Tomografia Computadorizada por Raios X , Trismo/diagnóstico por imagem , Trismo/patologia , Trismo/cirurgiaRESUMO
Mutations in cardiotrophin-like cytokine factor (CLCF1) and the related cytokine to which it binds, cytokine receptor-like factor 1 (CRLF1), are associated with Crisponi/cold induced sweating syndromes, and lead to early neonatal death in mice due to a suckling defect. These cytokines are members of the IL-6 superfamily, and form a range of composite cytokines that signal through gp130 bound either to the ciliary neurotrophic factor receptor (CNTFR) or a complex that involves the IL-27 p28 subunit. This review describes current knowledge of the signalling complexes formed by these cytokines, and explores their described and suggested roles in the neural, haematopoietic, skeletal, renal, immune and respiratory systems during development and adulthood, and in degenerative diseases and cancer.
Assuntos
Citocinas/imunologia , Febre/imunologia , Deformidades Congênitas da Mão/imunologia , Interleucina-6/imunologia , Proteínas de Neoplasias/imunologia , Neoplasias/imunologia , Trismo/congênito , Animais , Subunidade alfa do Receptor do Fator Neutrófico Ciliar/genética , Subunidade alfa do Receptor do Fator Neutrófico Ciliar/imunologia , Receptor gp130 de Citocina/genética , Receptor gp130 de Citocina/imunologia , Citocinas/genética , Morte Súbita , Fácies , Febre/genética , Deformidades Congênitas da Mão/genética , Humanos , Hiperidrose , Interleucina-6/genética , Interleucinas/genética , Interleucinas/imunologia , Camundongos , Contração Muscular/genética , Contração Muscular/imunologia , Proteínas de Neoplasias/genética , Neoplasias/genética , Trismo/genética , Trismo/imunologiaRESUMO
Trismus-pseudocamptodactyly syndrome (TPS) is a rare autosomal dominant distal arthrogryposis (DA) characterized by an inability to open the mouth fully (trismus) and an unusual camptodactyly of the fingers that is apparent only upon dorsiflexion of the wrist (i.e., pseudocamptodactyly). TPS is also known as Dutch-Kentucky syndrome because a Dutch founder mutation is presumed to be the origin of TPS cases in the Southeast US, including Kentucky. To date only a single mutation, p.R674Q, in MYH8 has been reported to cause TPS. Several individuals with this mutation also had a so-called "variant" of Carney complex, suggesting that the pathogenesis of TPS and Carney complex might be shared. We screened MYH8 in four TPS pedigrees, including the original Dutch family in which TPS was reported. All four TPS families shared the p.R674Q substitution. However, haplotype analysis revealed that this mutation has arisen independently in North American and European TPS pedigrees. None of the individuals with TPS studied had features of Carney complex, and p.R674Q was not found in 49 independent cases of Carney complex that were screened. Our findings show that distal arthrogryposis syndromes share a similar pathogenesis and are, in general, caused by disruption of the contractile complex of muscle.
Assuntos
Artrogripose/genética , Mutação de Sentido Incorreto , Cadeias Pesadas de Miosina/genética , Trismo/genética , Sequência de Aminoácidos , Substituição de Aminoácidos , Sequência de Bases , Sequência Conservada , DNA/genética , Feminino , Genes Dominantes , Haplótipos , Humanos , Masculino , Modelos Moleculares , Cadeias Pesadas de Miosina/química , Linhagem , Homologia de Sequência de Aminoácidos , SíndromeRESUMO
BACKGROUND: Familial cardiac myxomas occur in the hereditary syndrome Carney complex. Although PRKAR1A mutations can cause the Carney complex, the disorder is genetically heterogeneous. To identify the cause of a Carney complex variant associated with distal arthrogryposis (the trismus-pseudocamptodactyly syndrome), we performed clinical and genetic studies. METHODS: A large family with familial cardiac myxomas and the trismus-pseudocamptodactyly syndrome (Family 1) was identified and clinically evaluated along with two families with trismus and pseudocamptodactyly. Genetic linkage analyses were performed with the use of microsatellite polymorphisms to determine a locus for this Carney complex variant. Positional cloning and mutational analyses of candidate genes were performed to identify the genetic cause of disease in the family with the Carney complex as well as in the families with the trismus-pseudocamptodactyly syndrome. RESULTS: Clinical evaluations demonstrated that the Carney complex cosegregated with the trismus-pseudocamptodactyly syndrome in Family 1, and genetic analyses demonstrated linkage of the disease to chromosome 17p12-p13.1 (maximum multipoint lod score, 4.39). Sequence analysis revealed a missense mutation (Arg674Gln) in the perinatal myosin heavy-chain gene (MYH8). The same mutation was also found in the two families with the trismus-pseudocamptodactyly syndrome. Arg674 is highly conserved evolutionarily, localizes to the actin-binding domain of the perinatal myosin head, and is close to the ATP-binding site. We identified nonsynonymous MYH8 polymorphisms in patients with cardiac myxoma syndromes but without arthrogryposis. CONCLUSIONS: We describe a novel heart-hand syndrome involving familial cardiac myxomas and distal arthrogryposis and demonstrate that these disorders are caused by a founder mutation in the MYH8 gene. Our findings demonstrate novel roles for perinatal myosin in both the development of skeletal muscle and cardiac tumorigenesis.
Assuntos
Artrogripose/genética , Neoplasias Cardíacas/genética , Mutação de Sentido Incorreto , Cadeias Pesadas de Miosina/genética , Mixoma/genética , Transtornos da Pigmentação/genética , Trismo/genética , Análise Mutacional de DNA , Feminino , Dedos/anormalidades , Genótipo , Mutação em Linhagem Germinativa , Humanos , Escore Lod , Masculino , Cadeias Pesadas de Miosina/química , Neoplasias Primárias Múltiplas/genética , Linhagem , SíndromeRESUMO
The trismus pseudocamptodactyly syndrome also called Hecht syndrome or Dutch-Kentucky syndrome is characterized by loss of the ability to fully open the mouth (trismus) and a finger contracture with progressive flexion of the fingers upon extension of the wrist (pseudocamptodactyly). Deformities of the foot may be associated e.g. hammer and claw toes, tightening of the muscles of the posterior part of the leg producing an equinovarus foot. The authors presents two affected individuals from one family from which nine members had some involvement. The expression of the syndrome may vary. The pattern of the finger contracture is specific. The inheritance is autosomal dominant.