Ontology highlight
ABSTRACT:
SUBMITTER: Vahlquist A
PROVIDER: S-EPMC5797567 | biostudies-literature | 2018 Feb
REPOSITORIES: biostudies-literature
Vahlquist Anders A Fischer Judith J Törmä Hans H
American journal of clinical dermatology 20180201 1
Hereditary ichthyoses are due to mutations on one or both alleles of more than 30 different genes, mainly expressed in the upper epidermis. Syndromic as well as nonsyndromic forms of ichthyosis exist. Irrespective of etiology, virtually all types of ichthyosis exhibit a defective epidermal barrier that constitutes the driving force for hyperkeratosis, skin scaling, and inflammation. In nonsyndromic forms, these features are most evident in severe autosomal recessive congenital ichthyosis (ARCI) ...[more]