Epidermolysis bullosa

Formerly known as Kindler syndrome, EBK is caused by defects in a single protein, kindlin-1 (encoded by the FERMT1 gene). This syndrome stands apart from other forms of EB due to its distinctive blister formation pattern, which can manifest across various layers simultaneously, including mucous membranes.

EBK follows an autosomal recessive inheritance pattern.

The typical clinical presentation of EBK comprises:

• Characterised by generalised blisters, most commonly occurring during childhood with a tendency to improve in adulthood.
• Features include absent or dystrophic nails, which exhibit rough, thickened, or deformed qualities on the hands or feet.
• Atrophic scarring manifests as skin indentations resulting from thinning the epidermis or dermis.
• Keratoderma involves the thickening of the skin.
• Photosensitivity denotes increased sensitivity to ultraviolet (UV) light from sunlight and other light sources.
• Poikiloderma presents as widespread irregular areas of reddish-brown pigmentation forming a mesh-like pattern with central skin thinning.
• Mouth anomalies involve soft tissue abnormalities, such as gingival hyperplasia leading to gum enlargement.
• Ocular complications encompass ectropion, in which the eyelid turns away from the eye's surface, exposing the inner eyelid.
• Gastrointestinal tract involvement encompasses colitis, which involves inflammation and ulceration of the inner lining of the colon (potentially severe); esophagitis, characterised by inflammation of the oesophagal lining; and oesophagal stenosis, signifying the narrowing of the oesophagus.