A term newborn is encased in a shiny, taut, parchment-like membrane over the whole body, causing ectropion, eclabium, and fixed flexion deformities of the fingers. Over the following 2 weeks the membrane cracks and peels off. This presentation most strongly suggests which condition?

• A Ichthyosis vulgaris
• B Epidermolytic hyperkeratosis
• C X-linked ichthyosis
• D Lamellar ichthyosis ✓

Explanation

A collodion baby with ectropion and eclabium is the classic neonatal presentation of lamellar ichthyosis, an autosomal recessive disorder of transglutaminase 1 (TGM1) leading to generalized plate-like scales later in life. Ichthyosis vulgaris presents after 3 months with fine scales and hyperlinear palms, X-linked ichthyosis shows large dark polygonal scales sparing the face with steroid sulfatase deficiency, and epidermolytic hyperkeratosis presents with blistering rather than a collodion membrane. Management is supportive care in a humidified incubator.

Reference: Nelson Textbook of Pediatrics, 21st ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

Written and medically reviewed by the StethoPrep medical team.