Sindrom LEOPARD merupakan genodermatosis yang jarang ditemukan, diturunkan secara dominan autosomal, dan melibatkan kelainan multiorgan. Kelainan kulit dapat merupakan petanda awal sehingga diperlukan kewaspadaan dokter untuk mencegah komplikasi lanjut.
       Dilaporkan satu kasus perempuan usia 29 tahun dengan lentiginosis generalisata, berjumlah ratusan, disertai makula café-au-lait, tanpa keluhan tambahan lain. Pasien memiliki dua anak kembar laki-laki dan seorang anak perempuan dengan kelainan kulit sama. Pemeriksaan histopatologik sesuai lentigo. Diagnosis sindrom LEOPARD ditegakkan berdasarkan ditemukannya dua kelainan lain pada pasien selain lentiginosis multipel, yaitu skoliosis dan atrial septal defect, meskipun tidak ditemukan keluhan apapun sebelumnya. Pada salah seorang anak kembar pasien ditemukan kriptorkidisme, sedangkan pada anak perempuan ditemukan hipertrofi septum asimetris. Mereka dianjurkan menghindari pajanan matahari, memakai tabir surya, dan mendapatkan konseling genetik. Ibu dan anak perempuan diberikan terapi kelainan jantung, anak laki-laki dirujuk ke bagian anak dan bedah, serta observasi periodik setiap enam bulan untuk pemantauan timbulnya kelainan lain.
      Saat ini baru sekitar 200 kasus sindrom LEOPARD dilaporkan di dunia. Identifikasi awal diperlukan pada kasus yang mengancam jiwa, terutama yang melibatkan sistem kardiovaskular. Pada kasus ini kelainan jantung ditemukan pada tahap dini sehingga komplikasi lanjut dapat dicegah. Konseling genetik dan observasi periodik merupakan bagian penting tatalaksana penyakit. (MDVI 201i; 38/s; 30s - 37s)

Kata kunci: lentiginosis generalisata, sindrom LEOPARD, atrial septal defect, konseling genetic.

     LEOPARD syndrome is a rare, autosomal dominant inheritance genodermatoses, involving multisystem abnormalities. Cutaneous lesions can be the early sign, thus requiring physicians awareness to prevent further complications.
      Case report. A 29 year-old woman had generalized lentiginosis accompanied by café-aulait macules without any secondary complaints. She has two twin sons and a daughter with the same complaint. Histopathological finding was consistent with lentigo. The patient’s diagnosis of LEOPARD syndrome was based on two other abnormalities beside lentiginosis, which were scoliosis and atrial septal defect, eventhough there were no previous symptoms. One of the twins had cryptorchidism and the daughter had asymmetrical septal hypertrophy. They were suggested to avoid extensive sun exposure and use sunscreen, and received genetic counseling. The mother was treated for her heart disease, while the twin was referred to the pediatric and surgery department. They were advised for periodic observation every six months to monitor further abnormalities.
      There are only about 200 reports of LEOPARD syndrome cases all over the world. Early identification is needed, especially in life threatening cases such as cardiovascular involvement. In this case, the heart defect was found in the early stage, so further complications could be prevented. Genetic counseling and periodic observations are important parts of the disease management.(MDVI 2011; 38/s; 30s - 37s)

Keywords: generalized lentiginosis, LEOPARD syndrome, atrial septal defect, genetic counseling