LEOPARD Syndrome with PTPN11 Gene Mutation / 대한피부과학회지

ABSTRACT

LEOPARD syndrome is an autosomal dominant inherited disease with multiple congenital anomalies. LEOPARD is an acronym for Lentigines, Electrocardiographic conduction defects, Ocular hypertelorism, Pulmonary stenosis, Abnormalities of the genitalia, Retardation of growth, and Deafness. The disorder is caused by mutations in the PTPN11 gene or RAF1 gene. Here we report two typical cases of LEOPARD syndrome with lentigines, electrocardiograph abnormality, ocular hypertelorism which were proven to be the results of genetic mutations. Moreover, one 12-year-old boy showed growth retardation, deficiency in testosterone; the other 5-year-old girl had undergone implantation of a cochlear device and was diagnosed as having hypertrophic cardiomyopathy which has been managed with a beta blocker. Each patient showed a PTPN11 gene mutation Thr468Met in exon 12 and Tyr279Cys in exon 7, respectively.