LEOPARD症候群

・全身の色素斑を伴ったLEOPARD症候群の1例を経験した． ・PTPN11遺伝子のミスセンス変異がヘテロ接合体で検出された． ・カフェオレ斑のほか，特徴的顔貌や漏斗胸など外表奇形も伴っていた． （「症例のポイント」より）

A case of LEOPARD syndrome

Kunisada, Makoto1）Nishigori, Chikako1） 1）Division of Dermatology, Department of Internal Related, Kobe University Graduate School of Medicine

Abstract A two-year-old boy was referred to us for the evaluations of multiple small sized pigmented macules of his trunk and extremities with characteristic facial features and pectoris excavatum. A small number of café-au-lait spots were also presented on his extremities. Biopsy specimens taken from pigmented lesion showed hyperpigmentation at basal layer of epidermis. Genetic studies from patients’ peripheral blood showed heterozygous missense mutation at PTPN11 (c. 836A>G).