SNP Shot: Genomic Insights

Kindler epidermolysis bullosa (Kindler EB) is an uncommon type of epidermolysis bullosa. Epidermolysis bullosa is a group of genetic conditions characterized by extremely delicate skin that blisters easily.

People with Kindler EB develop skin blisters, mainly on the backs of their hands and tops of their feet, starting in infancy. Although blistering may lessen over time, repeated blistering on the hands can cause scarring and webbing between the fingers and toes. Those affected also develop thin, fragile skin, initially on the hands and feet, which can then spread to other areas of the body. They may also show changes in skin color and small clusters of visible blood vessels under the skin (telangiectases), a combination of features known as poikiloderma. Some individuals experience thickening and hardening of the skin on the palms of their hands and soles of their feet (hyperkeratosis). Additionally, Kindler EB can make people more sensitive to sunlight (UV rays), resulting in frequent sunburns.

Kindler EB can also affect the mucous membranes that line the mouth, eyes, esophagus, intestines, genitals, and urinary tract, making these tissues fragile and easily injured. Severe gum disease, which can lead to early tooth loss, is a common complication. Inflammation of the conjunctiva (conjunctivitis) can occur, affecting the lining of the eyelids and the white of the eyes. Corneal damage can impair vision. Narrowing of the esophagus (esophageal stenosis) can cause increasing difficulty swallowing. Some individuals may develop colitis (inflammation of the colon) or damage to the mucous membranes of the vagina, anus, or urethra.

Kindler EB increases the chance of developing squamous cell carcinoma, a type of cancer that begins in squamous cells, which are found in the outer layer of the skin (epidermis) and mucous membranes. In people with Kindler EB, this cancer most often affects the skin, lips, and oral mucosa (lining of the mouth).

Inheritance:

This condition is inherited in an autosomal recessive manner. This means that for a person to have the condition, they must inherit two mutated copies of the responsible gene, one from each parent. The parents of an affected individual each carry one copy of the mutated gene but usually don't show any signs or symptoms of the condition themselves.