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

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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.

Original languageEnglish
Article number8
JournalDermatology Online Journal
Volume25
Issue number7
Publication statusPublished - Jan 1 2019

Keywords

  • Genetic counseling
  • Intellectual disability
  • Netherton/Comèl syndrome
  • Next generation sequencing
  • Trichoscopy

ASJC Scopus subject areas

  • Dermatology

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