A neonate is born encased in a tight, parchment-like collodion membrane. After shedding, she develops widespread non-inflammatory scaling. Genetic testing reveals a mutation in TGM1 gene. The most likely diagnosis is:

• A Epidermolytic ichthyosis (bullous CIE)
• B Lamellar ichthyosis ✓
• C Netherton syndrome
• D X-linked ichthyosis

Explanation

Lamellar ichthyosis (autosomal recessive ARCI) is most commonly caused by mutations in TGM1 (transglutaminase-1), which encodes the enzyme that cross-links proteins in the cornified cell envelope. Clinical features include large, plate-like dark scaling over the entire body, ectropion, and eclabium. X-linked ichthyosis is caused by steroid sulfatase deficiency; epidermolytic ichthyosis (previously bullous CIE) involves KRT1/KRT10 mutations; Netherton syndrome involves SPINK5 mutations.

Reference: Neena Khanna Illustrated Synopsis of Dermatology & STD, 6th ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

Written and medically reviewed by the StethoPrep medical team.