Epidermolysis bullosa: Year of the Zebra
Epidermolysis bullosa is a group of inherited disorders that cause the skin or mucous membranes to become fragile and blister easily.
In individuals with epidermolysis bullosa, the skin lacks specific anchor proteins that act as glue to hold the layers of skin together.
Even minor mechanical friction, from rubbing, squeezing, or scratching, can separate the layers of the skin resulting in blisters and painful wounds.Now, with most types of epidermolysis bullosa, symptoms typically appear at birth or in early childhood, although some types can develop later in life.
Most lesions appear in areas of friction, such as the hands, feet, knees, and buttocks. They can also affect other parts of the body and even the tissues lining the mouth, eyes, and other mucous membranes, like the gastrointestinal tract.
The skin may also be painful and appear thin. Sometimes, there may also be associated nail defects or complete absence of nails, as well as dental problems, like tooth decay, and alopecia, or the absence of hair, especially in scarred areas.
With certain types of epidermolysis bullosa, there’s an increased risk of skin cancer in early adulthood due to recurrent blistering and inflammation.
Alright, so diagnosis includes a history, physical exam, and skin biopsy, where a small sample of skin is obtained to analyze under a microscope using immunofluorescent mapping or electron microscopy.
Immunofluorescent mapping involves determining if the anchor proteins between the skin layers are missing or reduced in number and electron microscopy magnifies images to help identify structural defects in the skin.
Alternatively, genetic testing may be done to identify defective genes in individuals with the disease and their family members.
Now, there is no cure for epidermolysis bullosa so management focuses on preventing blisters, managing any wounds, and treating complications.
To prevent blisters, the environment can be kept cool and the skin moist by using a moisturizer daily. Scratching should be avoided and can be helped by keeping nails trimmed short.
To avoid trauma, hard surfaces can be padded with foam or a thick towel and long pants and sleeves can be worn, especially when outdoors.
If wounds do occur, treatment may involve wound care, antibiotics, pain medications, and close follow-up to prevent infection or deformity.
Finally, in cases where scar tissue has caused deformities, like fused fingers or toes, surgery may be performed to improve mobility and quality of life.
##SummaryAlright, as a quick recap, epidermolysis bullosa is a group of inherited skin disorders characterized by extreme skin fragility and blister formation after minor trauma.
It is usually diagnosed in early childhood through skin biopsy and genetic testing. Currently, there is no cure for the disease and management focuses on prevention of blisters, wound care,
- "Epidermolysis bullosa" Nature Reviews Disease Primers (2020)
- "Prenatal Diagnosis of Epidermolysis Bullosa" Dermatologic Clinics (2010)
- "Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa" British Journal of Dermatology (2019)
- "Diagnosis, treatment and management of epidermolysis bullosa" British Journal of Nursing (2016)
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