A 5-month-old child presented to the dermatology OPD with dryness along with white, fine scales on most pas of the body with sparing of face. The child was born at 39 weeks gestation spontaneous vaginal delivery outside the hospital. On examination, large scales which were attached at the centre with turned up edges were observed at the extensor surface of lower limbs along characteristic finding on palms and deltoid region. Which of the following genes is most likely defective in the above condition: –
A 5-month-old child presented to the dermatology OPD with dryness along with white, fine scales on most pas of the body with sparing of face. The child was born at 39 weeks gestation spontaneous vaginal delivery outside the hospital. On examination, large scales which were attached at the centre with turned up edges were observed at the extensor surface of lower limbs along characteristic finding on palms and deltoid region. Which of the following genes is most likely defective in the above condition: –
π‘ Explanation
**Core Concept**
The condition described is a congenital skin disorder characterized by dryness, fine scales, and specific morphological features on the extensor surfaces and palms. This condition is a genetic disorder affecting keratinization, leading to abnormal skin structure and function.
**Why the Correct Answer is Right**
The condition described is a classic presentation of Ichthyosis Vulgaris, a type of ichthyosis characterized by dry, scaly skin. The genetic defect underlying Ichthyosis Vulgaris is in the gene encoding the protein filaggrin, which plays a crucial role in the formation of the skin's natural moisture barrier. Mutations in the FLG gene lead to the production of defective filaggrin protein, resulting in impaired skin barrier function and the characteristic skin manifestations.
**Why Each Wrong Option is Incorrect**
**Option A:** Not relevant to the condition described.
**Option B:** Associated with a different type of ichthyosis, Erythrokeratodermia Variabilis, which presents with erythematous plaques and keratotic papules.
**Option C:** Associated with a different type of ichthyosis, Lamellar Ichthyosis, which presents with large, plate-like scales and often involves the face and trunk.
**Clinical Pearl / High-Yield Fact**
Ichthyosis Vulgaris is the most common type of ichthyosis and is often associated with atopic dermatitis and asthma. Patients with Ichthyosis Vulgaris may also have a family history of atopic disorders.
**Correct Answer:** B.
β Correct Answer: D. Filaggrin
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