Spectrum of Autosomal Recessive Congenital Ichthyosis in Scandinavia: Clinical Characteristics and Novel and Recurrent Mutations in 132 Patients.

In conclusion, by performing a deep phenotyping and gene screening, ARCI can be definitely diagnosed in 85% of cases in Scandinavia, with a prevalence of 1:100,000 and > 8 different aetiologies. PMID: 27025581 [PubMed - as supplied by publisher]

http://www.ncbi.nlm.nih.gov/pubmed/27025581?dopt=Abstract

Source: Acta Dermato-Venereologica - March 29, 2016 Category: Dermatology Authors: Hellström Pigg M, Bygum A, Gånemo A, Virtanen M, Brandrup F, Zimmer AD, Hotz A, Vahlquist A, Fischer J Tags: Acta Derm Venereol Source Type: research