Multiple lentigines syndrome is an autosomal dominant genetic disease,and its expressivity and penetrance are variable.It is also known as LEOPARD syndrome(LS).The genes known to be associated with LS include PTPN11,R...Multiple lentigines syndrome is an autosomal dominant genetic disease,and its expressivity and penetrance are variable.It is also known as LEOPARD syndrome(LS).The genes known to be associated with LS include PTPN11,RAF1 and BRAF.The diagnosis of LS(OMIM 151100)is based on the observation of key features in the clinical background.LS caused by a germline PTPN11 mutation are characterized as multisystemic anomalies and variable marked phenotypes such as multiple lentigines and cafénoir spots,electrocardiographic conduction abnormalities,ocular hypertelorism/obstructive cardiomyopathy,pulmonary stenosis,abnormal genitalia,retardation of growth,and deafness.Phenotype overlap complicates clinical discrimination within RASopathies,making the diagnosis of LS more confusing and challenging.Besides,LS patients do not usually present with all these typical clinical features,increasing the possibility of underdiagnosis or misdiagnosis.Herein,we report a case of a 41-year-old male presenting with multiple dark pigmented macules all over the body,thoracic deformity and family history.And we followed up the patients.展开更多
文摘Multiple lentigines syndrome is an autosomal dominant genetic disease,and its expressivity and penetrance are variable.It is also known as LEOPARD syndrome(LS).The genes known to be associated with LS include PTPN11,RAF1 and BRAF.The diagnosis of LS(OMIM 151100)is based on the observation of key features in the clinical background.LS caused by a germline PTPN11 mutation are characterized as multisystemic anomalies and variable marked phenotypes such as multiple lentigines and cafénoir spots,electrocardiographic conduction abnormalities,ocular hypertelorism/obstructive cardiomyopathy,pulmonary stenosis,abnormal genitalia,retardation of growth,and deafness.Phenotype overlap complicates clinical discrimination within RASopathies,making the diagnosis of LS more confusing and challenging.Besides,LS patients do not usually present with all these typical clinical features,increasing the possibility of underdiagnosis or misdiagnosis.Herein,we report a case of a 41-year-old male presenting with multiple dark pigmented macules all over the body,thoracic deformity and family history.And we followed up the patients.
