Ektodermale Dysplasie/Skin fragility Syndrom (ED/SFS)
Ectodermal dysplasia/Skin fragility syndrome (ED/SFS)
General description
At birth, the skin of affected dogs is abnormally pale and translucent on ears, feet, nose and mouth area. Spontaneous sloughing of the nose and footpad epithelium and bleeding of ear tips occur if traumatized. Lips and facial skin layers also slough when rubbed or licked by mother.
Breeds
Chesapeake Bay Retriever
Order details
| Test number | 8484 |
| Abbreviation | ED/SFS |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Test specifications
| Symptom complex | dermatologic |
| Inheritance | autosomal recessive |
| Age of onset | from birth |
| Causality | causally |
| Gene | PKP1 |
| Mutation | C-G |
| Literature | OMIA:001864-9615 |
Detailed description
At birth, the skin of affected dogs is abnormally pale and translucent on ears, feet, nose and mouth area. Spontaneous sloughing of the nose and footpad epithelium and bleeding of ear tips occur if traumatized. Lips and facial skin layers also slough when rubbed or licked by mother. Affected dogs have to be euthanized.
