Diagnosis: harlequin baby
Born in our hospital
Born in our hospital
Submitted by Ajmal Rashid. Originally posted June 5, 2012.
See case discussion.
• Harlequin ichthyosis • Lamellar ichthyosis • Congenital ichthyosiform erythroderma • Gaucher disease type 2 • Self-healing collodion baby
• Born encased in a tight, shiny, translucent membrane (collodion membrane) • A phenotype, not a diagnosis — most commonly evolves into lamellar ichthyosis or congenital ichthyosiform erythroderma • ~10% are "self-healing" collodion babies with normal underlying skin • Neonatal complications: ectropion, eclabion, restricted breathing, feeding difficulties • Risk of fluid loss, temperature instability, and sepsis — NICU care required • Membrane typically sheds within 2-4 weeks
Tags: harlequin, baby, ajmal rashid