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.
<p>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.</p><p>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.</p><p> </p>
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
hi@scite.ai
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.