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Clinico Cases on Instagram: "✅Harlequin Ichthyosis is a rare and severe genetic skin disorder where babies are born with thick, armor-like plates of skin, deep cracks, and tight facial features leading to severe complications. 🧬 Cause: 🔹 Mutation in the ABCA12 gene 🔹 Defective lipid transport leads to abnormal skin barrier formation 🔹 Autosomal recessive inheritance ⚙️ Pathogenesis: 🚫 The ABCA12 gene is responsible for skin cell lipid transport. When defective: ✔️ Overproduction of keratin

Dr.Isacc Abbas (English) on Instagram: "In harlequin ichthyosis condition, baby would have abnormally small amounts of the ABCA12 gene or none at all. This gene signals to produce a protein that’s vital for the development of our skin which has an important role in transporting fats to the outermost layer of the skin’s epidermis producing a barrier. Literature references: National organisation for rare disorders- Harlequin Ichthyosis #child #gene #fetal"

Ayman Alatas on Instagram: "Harlequin ichthyosis adalah kelainan genetik langka yang menyebabkan kulit bayi menjadi sangat tebal dan keras, terbagi menjadi pelat-pelat besar menyerupai sisik ikan dengan celah-celah merah dalam. Gejala termasuk deformasi kelopak mata, bibir, hidung, dan telinga, serta masalah makan dan bernapas. Kondisi ini disebabkan oleh mutasi pada gen ABCA12 dan diwariskan secara autosomal resesif. Perawatan berfokus pada menjaga kelembapan kulit, mencegah infeksi, dan mengel

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