Rare Skin Disorder Causes Skin To Peel Off 10 Times Faster In Woman; Know More About It

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A Brooklyn-based communications manager Becca Joy Stout was diagnosed with a rare skin disorder that causes her to lose skin ten times more rapidly than the average individual.

A mutation in the keratin 10 gene causes Stout's skin cells to not bond together normally, causing blisters and open wounds overnight. Stout now sleeps on her stomach with both arms on either side of her body to prevent blisters from forming.

She suffers from epidermolytic hyperkeratosis, which causes her to lose large chunks of skin when sitting or lying down for an extended period of time.

"I also cannot use band-aids because the adhesive tears my skin off. I also am extremely prone to skin infections, even when I do not have large open wounds because I get micro-tears in my skin, such as from shaving," Stout said to Daily Mail [1].

Read more about it here.

What Is Epidermolytic Hyperkeratosis?

A rare and severe form of ichthyosis, epidermolytic ichthyosis (EI), also known as bullous epidermis ichthyosis (BEI), epidermolytic hyperkeratosis (EHK), and bullous congenital ichthyosiform erythroderma (BCIE), bullous ichthyosiform erythroderma, or bullous congenital ichthyosiform erythroderma, can affect approximately one out of 300,000 people [2].

Ichthyosis is an inflammatory skin disease characterised by dry, itchy skin that appears rough, scaly, and red.

What Causes Epidermolytic Hyperkeratosis?

Epidermolytic hyperkeratosis (EHK) is caused by mutations in the genes which provide instructions for the production of proteins in the outer layer of the skin [3].

As a result of these mutations, keratin proteins are altered, which prevents them from forming strong, stable intermediate filament networks within cells. Keratinocytes become fragile without a strong network, resulting in blisters when friction or mild trauma occurs.

It is unclear how these mutations result in hyperkeratotic skin by overgrowing epidermal cells.

Therefore, the 24-year-old communication professional must moisturise her body several times throughout the day to prevent her gaping wounds from becoming infected.

How Is Epidermolytic Hyperkeratosis Diagnosed?

Epidermolytic hyperkeratosis can be diagnosed by an examination that reveals a generalized redness, thick, usually dark scales that tend to form parallel rows of spines or ridges, particularly near large joints; the skin is fragile and blisters readily upon trauma; the extent of blistering is variable as well as the amount of scale that accumulates [4].

How Is Epidermolytic Hyperkeratosis Treated?

The use of oral retinoids has been shown to be effective in the treatment of this condition. Depending on the side effects, they may be able to improve the quality of life.

For sufferers of epidermolytic hyperkeratosis, gene therapy is the only real option. While oral retinoids can relieve the symptoms of EHK, they do not address the underlying genetic cause of this disease. Gene therapy aims to cure EHK by replacing the mutated gene with a normal, healthy gene [5].

Is There A Cure For Epidermolytic Hyperkeratosis?

Epidermolytic hyperkeratosis cannot be cured. The primary objective of treatment is to reduce hyperkeratosis through topical keratolytics such as lactic acid, alpha-hydroxy acid, or urea.

Topical emollients, such as those containing glycerin, are also commonly recommended [6].