Epidermolytic ichthyosis (formerly bullous congenital ichthyosiform erythroderma) presents at birth with widespread blistering and erosions that gradually give way to hyperkeratosis. The genes most commonly mutated encode:

• A Keratin 1 and keratin 10 ✓
• B Keratin 5 and keratin 14
• C Collagen VII
• D Laminin 332

Explanation

Epidermolytic ichthyosis is caused by mutations in KRT1 or KRT10, encoding keratins 1 and 10 respectively. These keratins are expressed in suprabasal keratinocytes, explaining the suprabasal epidermolysis histologically. Keratin 5 and 14 mutations cause epidermolysis bullosa simplex (basal layer). Collagen VII mutations cause dystrophic epidermolysis bullosa. Laminin 332 mutations cause junctional epidermolysis bullosa.

Reference: Robbins and Cotran Pathologic Basis of Disease, 10th ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

Written and medically reviewed by the StethoPrep medical team.