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

Research output: Contribution to journalArticle

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

Fingerprint

Netherton Syndrome
Ichthyosis
Hair
Siblings
Pathology
Mutation
Dermatitis
Genes

Keywords

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

ASJC Scopus subject areas

  • Dermatology

Cite this

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title = "Two siblings affected by netherton/com{\`e}l syndrome. Diagnostic pathology and description of a new SPINK5 variant",
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/Com{\`e}l 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.",
keywords = "Genetic counseling, Intellectual disability, Netherton/Com{\`e}l syndrome, Next generation sequencing, Trichoscopy",
author = "Carmelo Schepis and M. Siragusa and A. Centofanti and M. Vinci and F. Cal{\`i}",
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T1 - Two siblings affected by netherton/comèl syndrome. Diagnostic pathology and description of a new SPINK5 variant

AU - Schepis, Carmelo

AU - Siragusa, M.

AU - Centofanti, A.

AU - Vinci, M.

AU - Calì, F.

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N2 - 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.

AB - 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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KW - Next generation sequencing

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