Epidermolytic Ichthyosis - Diagnostic Tests

Diagnostic Tests

Histological analysis

Vacuolar change, lysis and coarse clumps in the stratum granulosum and outer stratum spinosum
Intraepidermal cleavage in the mid o upper epidermis

Electron microscopy

Intracellular cleavage within keratinocytes of the spinous layer
Aggregation of tonofilaments in the spinous layer


Aggregation of keratin 1 or keratin 10 filaments in the spinous layers

Molecular analysis

Mutation analysis: mutation in one allele of the gene encoding keratin 1 (KRT1) or keratin 10 (KRT10), most often in the helix initiation peptide (HIP) or helix termination peptide (HTP).

Diagnostic Tools

This section offers to professional users instruments helpful to establish the disease diagnosis. Specific entries include:

  1. model questionnaires, protocols, or checklists, which may guide clinicians and laboratory personnel in the diagnostic procedure of specific disease groups/subgroups;
  2. a list of cell biology/biochemical tools used for laboratory diagnosis of specific diseases or group of diseases;
  3. a list of molecular genetics tools, including mutational screening procedures, oligonucleotide primer sequences, PCR amplification conditions, and other details for selected diseases. In this section, you also find the link for the gene-specific page of the Weizmann Institute of Science GeneCards website ( which is an integrated database including information on disease relationships, SNPs, gene expression, gene function and more.
  4. a mutation database with a GENESKIN updated list of the mutations identified in the genes responsible for selected diseases. A link with the gene-specific page at the Human Gene Mutation Database maintained at the University of Wales in Cardiff ( and other databases, including the Human Intermediate Filament Database (

Model Questionnaire

Here you will find the downloadable version of the ichthyosis patient form. This document is currently used to collect patient details before sending the biological sample to the diagnostic laboratory, in order to ease cellular and/or molecular investigations.

Ichthyosis patient form

Molecular Genetic Tools

Causative genes

KRT1 gc
KRT10 gc

Mutation Database

Causative genes