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.
|Journal||Dermatology Online Journal|
|Publication status||Published - Jan 1 2019|
- Genetic counseling
- Intellectual disability
- Netherton/Comèl syndrome
- Next generation sequencing
ASJC Scopus subject areas