title: Ichthyosis. Reliability of clinical signs in the differentiation between autosomal dominant and sex-linked forms.
abstract: The reliability of clinical signs to differentiate between autosomal dominant ichthyosis (ADI) or sex-linked ichthyosis (SLI) were assessed. SLI was defined as ichthyosis in combination with steroid sulphatase deficiency. Age of onset and format of the scales were found to be reliable signs to ascertain the diagnosis of ADI or SLI. The ADI-like appearance in histopathology seems to be of little diagnostic value.
authors.affiliation: Department of Dermato-Venereology, University Hospital Rotterdam-Dijkzigt, The Netherlands.
authors.forename: M
authors.initials: M
authors.lastname: Bousema
authors.forename: O
authors.initials: O
authors.lastname: van Diggelen
authors.forename: T
authors.initials: T
authors.lastname: van Joost
authors.forename: E
authors.initials: E
authors.lastname: Stolz
authors.forename: B
authors.initials: B
authors.lastname: Naafs
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D006801:Humans; D007057:Ichthyosis / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D014960:X Chromosome