Netherton's syndrome in siblings.

Area of Science:

• Genetics and Developmental Biology
• Dermatology
• Pediatric Medicine

Background:

• Netherton syndrome is a rare autosomal recessive disorder characterized by the triad of ichthyosiform erythroderma, atopic dermatitis, and hair shaft abnormalities.
• Early diagnosis and management are crucial for improving outcomes in affected infants.

Observation:

• This report details the perinatal presentation and clinical evolution of Netherton syndrome in two siblings.
• The first sibling presented with severe non-bullous ichthyosiform erythroderma, dehydration, and failure to thrive, with later development of trichorrhexis invaginata and elevated IgE.
• The second sibling exhibited similar skin manifestations at birth, with delayed onset of hair abnormalities and normal IgE levels initially.

Findings:

• Netherton syndrome can present with significant perinatal complications, including respiratory distress from scale aspiration and hypernatraemic dehydration.
• The characteristic hair shaft abnormalities, such as trichorrhexis invaginata, and significantly elevated serum IgE levels may not be apparent until several months after birth.
• There is a notable delay in the manifestation of hair abnormalities and high IgE levels compared to the onset of ichthyosiform erythroderma.

Implications:

• These findings highlight the importance of recognizing the spectrum of Netherton syndrome presentation, particularly the delayed onset of specific diagnostic markers.
• Pediatricians and dermatologists should maintain a high index of suspicion for Netherton syndrome in infants with severe congenital ichthyosis, even in the absence of immediate hair abnormalities.
• Further research into the genetic and molecular mechanisms underlying the variable expressivity and delayed phenotype in Netherton syndrome is warranted.