A newborn develops widespread blistering and erythroderma within hours of birth. By age 2 years, the blistering has resolved but he has developed thick, dark, verrucous hyperkeratotic plaques in flexures. The underlying mutation is in:

• A KRT1 ✓
• B ABCA12
• C TGM1
• D NIPAL4

Explanation

Epidermolytic ichthyosis, formerly known as bullous congenital ichthyosiform erythroderma, is caused by mutations in keratin 1 (KRT1) or keratin 10 (KRT10) genes. Newborns present with severe blistering and erythroderma that resolves within months, replaced by verrucous hyperkeratotic plaques, especially in flexures. TGM1 mutations cause lamellar ichthyosis with collodion membrane, ABCA12 causes harlequin ichthyosis, and NIPAL4 mutations cause autosomal recessive congenital ichthyosis.

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.