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Scabies in a 14-year-old girl with superficial epidermolytic ichthyosis.

Igor Vázquez OsorioNoelia Moreiras AriasPatricia Pérez FealLaura Sainz-GasparNelmar Valentina Ortiz-CabreraAngela Hernández-Martín
Published in: Pediatric dermatology (2021)
A 14-year-old girl who reported generalized scaling and hyperkeratosis since age 1 year presented with severe pruritus of several months' duration. Scabies mites were detected, and molecular genetic analysis subsequently revealed a rare pathogenic variant in the keratin 2 (KRT2) gene, confirming a diagnosis of superficial epidermolytic ichthyosis. Treatment with oral ivermectin led to complete remission of symptoms. Disorders of keratinization can mimic clinical signs of scabies, leading to a delay in diagnosis.
Keyphrases
  • single cell
  • early onset
  • gene expression
  • disease activity
  • single molecule
  • transcription factor
  • depressive symptoms
  • replacement therapy