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Netherton's syndrome in siblings.

S Ansai1, Y Mitsuhashi, K Sasaki

  • 1Division of Dermatology, Yamagata Prefectural Nihon-kai Hospital, Sakata, Japan. shin8113@mwnet.or.jp

The British Journal of Dermatology
|December 22, 1999
PubMed
Summary

Netherton syndrome presents with severe skin issues and failure to thrive in siblings. Key hair abnormalities and elevated IgE levels manifest later than the initial ichthyosiform erythroderma.

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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.

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