Netherton syndrome

  • Autosomal Recessive
  • Mutations in SPINK5 gene → increased serine protease activity in stratum corneum, increased degradation of DSG1
    • Psoriasiform histopathology
    • Decreased granular/spinous layers
  • Infancy: failure to thrive, hypernatremic dehydration, ichthyosis with erythroderma, atopic dermatitis, itch, sparse hair
  • Trichorrhexis invaginata (bamboo hair, ball and socket) and ichthyosis linearis circumflexa (double-edge scale)
    • May not develop until later in childhood
    • Eyebrow is highest yield for trichorrhexis invaginate
  • Impaired skin barrier function → HPV infections
  • Immune alterations: elevated IgE, multiple food allergies, infection risk (cutaneous, respiratory, systemic)
  • Increased nutritional requirements
  • Treatment:
    • Supportive
    • Multidisciplinary
    • IVIG