XERODERMA PIGMENTOSUM : A CASE REPORT

Abstract

Xeroderma Pigmentosum (XP) is a very rare autosomal recessive disorder, the disease is caused by the inactivation of proteins in the Nucleotide Excision Repair (NER) pathway, this protein functions to recognize Deoxyribonucleic Acid (DNA) damage resulting from hypersensitivity to ultraviolet radiation. One of the XP cases was found in the Undata Regional General Hospital of Palu City which was found in 9-year-old boy patient. The patient has hypopigmented macer and hyperpigmentation since 2 years ago in the area of his body that was exposed to sunlight...............

Xeroderma Pigmentosum (XP) adalah gangguan autosomal resesif yang sangat jarang, penyakit ini disebabkan adanya inaktivasi protein pada jalur Nucleotide Excision Repair (NER), protein ini berfungsi untuk mengenali kerusakan Deoxyribonucleic Acid (DNA) akibatnya terjadi hipersensitivitas terhadap radiasi ultraviolet. Salah satu kasus XP didapatkan di Rumah Sakit Umum Daerah Undata Kota Palu yang ditemukan pada pasien anak laki-laki berusia 9 tahun. Pasien memiliki makula hipopigmentasi dan hiperpigmentasi sejak 2 tahun yang lalu pada area tubuhnya yang terkena paparan sinar matahari.