Two siblings affected by Netherton/Com èl syndrome. Diagnostic pathology and description of a new SPINK5 variant.

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.
PMID: 31450277 [PubMed - in process]

Source: Dermatol Online J - July 14, 2019 Category: Dermatology Authors: Schepis C, Siragusa M, Centofanti A, Vinci M, Calì F Tags: Dermatol Online J Source Type: research