Abstract:<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 sei… Show more
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