KINDLER EB

What are the clinical symptoms?

Skin blistering can occur at multiple and different levels within the skin, which begins at birth and is generalised with a tendency to affect the extremities. The tendency to blister decreases with age. Skin atrophy and poikiloderma (skin becomes discoloured) start on the top of the hands and on the neck during childhood and extends throughout the skin. There is widespread palmoplantar keratoderma (thickening of the skin on the palms of the hands and soles of the feet) and loss of dermatoglyphs (ridges and lines of the skin on the hands, such as fingerprints). Photosensitivity is of variable severity. Squamous cell carcinoma (SCC) SCC on extremities, lips, or oral cavity develop in young adulthood, have a severe course and cause premature death. Gingivitis (inflammation of the gums) with tooth loss, gingival hyperplasia (overgrowth of gum tissue around the teeth), oesophageal strictures, and colitis (inflammation of the large intestine) have been seen in a few cases. Urogenital strictures, ectropion (eyelid turns outwards), corneal erosions, and nail dystrophy (appearing thickened, damaged, misshapen, discoloured, and curvy) can occur. Scalp hair is not affected.

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Which genes are affected?

KEB is caused by variants in the FERMT1 gene containing information needed to make the Fermitin family homolog 1 protein.

 

How is it inherited?

KEB is inherited in an autosomal recessive manner.