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- Title
Two siblings affected by Netherton/Comèl syndrome. Diagnostic pathology and description of a new SPINK5 variant.
- Authors
Schepis, C.; Siragusa, M.; Centofanti, A.; Vinci, M.; Calì, F.
- 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.
- Subjects
SIBLINGS; ATOPIC dermatitis; ICHTHYOSIS; GENETIC mutation; GENETIC counseling; DISEASES
- Publication
Dermatology Online Journal, 2019, Vol 25, Issue 7, p1
- ISSN
1087-2108
- Publication type
Case Study
- DOI
10.5070/d3257044805