A newborn presents with a collodion-like membrane at birth that cracks and peels over weeks. The child subsequently develops thick, generalized, dark-brown, plate-like scales with no blistering. The condition is non-inflammatory and inherited. What is the diagnosis?

• A Epidermolysis bullosa (EB)
• B Epidermolytic hyperkeratosis (Bullous congenital ichthyosiform erythroderma)
• C Lamellar ichthyosis ✓
• D Netherton syndrome

Explanation

Lamellar ichthyosis is an autosomal recessive non-inflammatory ichthyosis caused most commonly by mutations in transglutaminase-1 (TGM1). The collodion baby presentation (encasing membrane at birth that cracks and sheds) is a frequent neonatal phenotype. After shedding, affected infants develop generalized large, dark, plate-like scales with ectropion and eclabium from the tight skin. Unlike epidermolytic hyperkeratosis, there is no blistering, and unlike erythrodermic ichthyosiform erythroderma, the background skin is not red.

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.