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1. Ichthyosis. Reliability of clinical signs in the differentiation between autosomal dominant and sex-linked forms.

Author

Bousema M, van Diggelen O, van Joost T, Stolz E, and Naafs B

Subjects
Adolescent, Adult, Aged, Child, Female, Genes, Dominant, Genetic Linkage, Humans, Ichthyosis diagnosis, Ichthyosis pathology, Male, Middle Aged, X Chromosome, Ichthyosis genetics
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.

Published
1989
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