Ichthyosis vulgaris is the most common disorder of keratinization. It is inherited in an autosomal dominant pattern and is biochemically characterized by deficiency of which protein?
- A Keratin 1
- B Filaggrin ✓
- C Steroid sulfatase
- D Transglutaminase 1
Correct answer: B. Filaggrin
Explanation
Ichthyosis vulgaris results from loss of function mutations in the FLG gene encoding filaggrin, a key structural protein in the cornified cell envelope. This leads to impaired epidermal barrier function. Steroid sulfatase deficiency causes X-linked ichthyosis. Transglutaminase 1 deficiency causes lamellar ichthyosis. Keratin 1 mutations cause epidermolytic ichthyosis.
Reference: Robbins and Cotran Pathologic Basis of Disease, 10th ed.
High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP
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