Inherited Epidermolysis Bullosa


There is a group of special children known as “Butterfly Babies” – for those unfamiliar with the term, it may evoke a picturesque scene of children running freely in a grassy field like beautiful butterflies. However, the reality is not always as idyllic as one might imagine(sources from

“Butterfly Babies” refer to patients with Inherited Epidermolysis Bullosa (EB). When slight friction or for no apparent reason, these patients’ skin and mucous tissues in the eyes, mouth, esophagus, respiratory tract, etc., develop blisters or blood blisters, leading to traumatic erosions, making them “as fragile as butterfly wings.” This is considered one of the most painful diseases among rare human conditions.

So, what causes these children to endure such pain in what should be an innocent and romantic childhood? Currently, 19 gene mutations have been identified that can cause EB.

Allow me to share a case of an EB patient that I encountered as a genetic counselor. Blisters were noticed in the oral cavity and on the hands and feet of the child from birth. After undergoing whole-exome genetic testing, two variants at the COL7A1 gene locus were discovered. However, why would healthy parents give birth to such an affected child? Let me provide a simple concept: Autosomal recessive inheritance (AR) refers to the inheritance of traits controlled by recessive genes on autosomes. In the case of a recessive inheritance pattern and when the pathogenic gene is on an autosome, carriers in a heterozygous state do not manifest the disease due to the masking effect of the normal dominant gene. The disease only occurs in the homozygous state, making it an autosomal recessive genetic disorder. Therefore, genetic testing was also performed on the parents, confirming that the variants at the two loci came from the father and mother, respectively. This explains the earlier question.

As for the treatment of EB, there is still no clearly effective method. Currently, the primary focus is on proper care: avoiding skin friction, managing blisters, and preventing secondary infections. However, in 2015, there was a breakthrough in treatment. A 7-year-old boy named Hassan, suffering from junctional epidermolysis bullosa, losing 80% of his skin, was admitted to the Burn Unit at the University Hospital of Bochum Ruhr, Germany. His attending physician collaborated with Italian scientists, employing gene therapy by transplanting genetically modified epidermal cells. The “new skin” did not show rejection and functioned well, growing hair follicles, sweat glands, exhibiting resilience, elasticity, and resembling normal skin. Now, at the age of 9, Hassan leads a normal child’s life, requiring no medications or ointments. Even if he falls and gets injured, his skin heals normally(quotes from therapeutique).

In reality, rare diseases are not as “rare” as one might think. The frequency of the term “rare diseases” is increasing in our lives, not because the number of people with rare diseases is growing, but because more people are paying attention. Various supporting organizations and charitable groups are joining the effort to care for patients with rare diseases, ensuring that those labeled as “orphan diseases” are no longer alone.

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