[A lethal variant of Netherton syndrome in a large inbred family].

Abstract excerpt

Netherton syndrome is a rare autosomal recessive disorder characterized by the triad of ichthyosiform erythrodermia, typical hair dysplasia, and severe atopic features. The broad range of variable expression of this disease is well described and 20% of complications occur during the neonatal period such as hypernatremic dehydration, electrolyte imbalances, recurrent or severe infections, and failure to thrive....

Topics

• Consanguinity
• Fatal Outcome
• Female
• Homozygote
• Humans
• Infant, Newborn
• Male
• Mutation
• Netherton Syndrome
• Proteinase Inhibitory Proteins, Secretory
• Serine Peptidase Inhibitor Kazal-Type 5