LEOPARD syndrome is a rare multisystemic disorder, inherited as an autosomal dominant trait, and is an acronym, for the major features that characterize the syndrome: multiple lentigines, electrocardiographic conduction defects, ocular hyperteloism, p...
LEOPARD syndrome is a rare multisystemic disorder, inherited as an autosomal dominant trait, and is an acronym, for the major features that characterize the syndrome: multiple lentigines, electrocardiographic conduction defects, ocular hyperteloism, pulmonary stenosis, genital abnormality, retardation of growth, and sensorineural deafness. Neurofibromatosis (NF) type 1 is diagnosed in the presence of at least two of the following symptoms: axillary or inguinal freckling, lisch nodules, optic glioma, and typical osseous findings and family history. A 21 year-old female presented with multiple lentigines, cephalofacial dysmorphism, skeletal abnormality, multiple cafe´-au-lait spots, neurofibromas, lisch nodules since birth. So our patient fullfill the diagnostic criteria for both NF1 and LEOPARD syndrome. Signs of NF type 1 and other distinct autosomal dominant disorders, can occur together. Most of cases LEOPARD syndrome combined with NF Type 1 had been thought in connection with gene mutation. Therefore, we screened genes, including PTPN11, NF1, TGFBR2, MAP2K1, RAF1, BRAF, and COL5A1, but couldn’t detect any those genes’ mutations. Further genes are under screening now. We report a rare case of combined features of LEOPARD syndrome and NF1.