Genetics and clinical features of Kindler epidermolysis bullosa^[1,2]

KEB

AR

FERMT1
Fermitin family homolog 1 (kindlin-1): biallelic pathogenic variants (nonsense, frame shift, splicing, large deletions, in regulatory regions, missense), mostly leading to absence of kindlin-1; in-frame deletion with residual kindlin-1 expression and function lead to a mild KEB phenotype

Revertant mosaicism

• Generalized skin blistering at birth with predilection for extremities; tendency to decrease with age: progressive skin atrophy and poikiloderma (starting on dorsal aspects of hands, neck), extending to entire integument during childhood
• Variable photosensitivity
• Diffuse palmoplantar keratoderma and loss of dermatoglyphs
• Squamous cell carcinomas on extremities, lips, oral cavity already in young adulthood, associated with premature death

• Gingivitis with tooth loss, gingival hyperplasia
• Oesophageal strictures
• Colitis
• Urogenital strictures
• Ectropion, corneal erosions

• Nail dystrophy