Iktiosis Harlequin: Tatalaksana dan Prognosis - Gunawan, Harry; Rakhmawati, Flora Anisah (Cermin Dunia Kedokteran, 2021)
Iktiosis Harlequin (IH) merupakan kelompok iktiosis kongenital autosomal resesif yang sangat jarang terjadi, dengan prevalensi 1 kasus setiap 300.000 orang. IH memiliki manifestasi klinis tipikal, dilahirkan dengan hiperkeratosis masif yang disebabkan pewarisan gen autosomal resesif mutasi gen adenosine triphosphate (ATP) - binding cassette sub-family A member 12 (ABCA12) yang terlibat dalam sekresi granula lamelar, serta transport seramid dan lipid epidermal. Kemungkinan hidup pasien IH meningkat seiring perbaikan fasilitas perawatan neonatus dan terapi retinoid. Prinsip utama perawatan pasien IH adalah mengupayakan deskuamasi, terapi suportif, dan penanganan kecacatan fisik yang mengancam vitalitas organ. Konseling genetik dan pemeriksaan diagnostik prenatal perlu untuk deteksi dini pada keluarga yang memiliki riwayat IH.Harlequin Ichthyosis (HI) is a rare autosomal recessive congenital ichthysosis that occurs in about 1 in 300.000 people. HI is characterized by typical skin manifestation with massive hyperkeratosis due to adenosine triphosphate (ATP) - binding cassette sub-family A member 12 (ABCA12) gene mutation inheritance. The ABCA12 gene is involved in lamellar granule secretion, ceramide, and epidermal lipid transport. Survival rate of HI patient increased along with improvement of neonatal care facilities and administration of systemic retinoid. The main principles of care are desquamation, supportive therapy, and treatment for physical disabilities which threatens organ vitality. Genetic counseling and prenatal diagnosis could benefit family with HI history.Â