Ectodermal Dysplasia-Skin-Fragility Syndrome - Diagnostic Tests

Diagnostic Tests

Mutation identification in the PKP1 causative gene confirms the clinical diagnosis. Immunohistochemical analysis of a skin biopsy revealing absence of staining in the epidermis for plakophilin-1 may also help in the diagnosis. However, positive plakofilin-1 labelling does not exclude the diagnosis.

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, such as the collagen database in Leicester (, is also available.

Model Questionnaire

Ectodermal Dysplasia Questionnaire

Cell Biology Tools

To date, there isn’t any cell biology or biochemical diagnostic test for this condition.

Molecular Genetic Tools

PKP1 Genecards Logo

Mutation Database