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.
Dermatology Online Journal 25(7)
2019
ISSN/ISBN: 1087-2108 PMID: 31450277 Document Number: 699114
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.