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Two siblings affected by Netherton/Comèl syndrome. Diagnostic pathology and description of a new SPINK5 variant

  • Author(s): Schepis, C
  • Siragusa, M
  • Centofanti, A
  • Vinci, M
  • Calì, F
  • et al.
Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International Public License
Abstract

Netherton syndrome is a severe, autosomal recessive form of ichthyosis associated with mutations in the SPINK5 gene encompassing three main clinical findings: 1) ichthyosiform dermatitis and/or ichthyosis linearis circumflexa, 2) hair shaft defects with peculiar "trichorrhexis invaginata" (bamboo pole hair) findings, 3) atopic dermatitis. We describe two siblings affected by Netherton/Comèl syndrome who were referred to our Center for Genodermatosis. A diagnostic pathway and the description of a new SPINK5 variant has been determined for these two patients. A novel genetic mutation has been found.

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