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" Two siblings affected by Netherton/Comèl syndrome. Diagnostic pathology and description of a new SPINK5 variant "
Schepis, C; Siragusa, M; Centofanti, A; Vinci, M; Calì, F
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AL
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| Record Number
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924616
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LA0881q3sk
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| Language of Document
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English
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| Main Entry
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Schepis, C; Siragusa, M; Centofanti, A; Vinci, M; Calì, F
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| Title & Author
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Two siblings affected by Netherton/Comèl syndrome. Diagnostic pathology and description of a new SPINK5 variant [Article]\ Schepis, C; Siragusa, M; Centofanti, A; Vinci, M; Calì, F
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| Title of Periodical
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Dermatology Online Journal
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| Volume/ Issue Number
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25/7
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| Date
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2019
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| Abstract
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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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