Language
Country/Area
No result found
Why do some people get blisters when they walk or crawl? The surprising cause of EB!
When we hear blisters, we often think of those small blisters that develop on our feet due to friction when walking or hiking on a hot summer day. For most people this is just a minor inconvenience, but for some it is a rare disease called Epidermolysis Bullosa (EB). This is a group of rare diseases that cause the skin and mucous membranes to easily blister. Mild trauma or friction may cause blisters, accompanied by severe pain.
According to the data, the severity of EB ranges from mild to fatal, and the genetic incidence of the disease in the United States is 8.2 cases per million live births.
In some mild cases, symptoms may not begin until they start crawling or walking. In this case, quality of life declines rapidly as persistent skin blisters can solidify into chronic wounds that can eventually develop into serious health problems that may even require amputation.
Epidermolytic blistering disease is caused by mutations in at least 16 different genes. The underlying mechanism lies in attachment defects between or within the layers of the skin, leading to structural instability. In particular, the loss or degradation of type VII collagen function results in a fragile junction between the dermis and epidermis, making the skin easily separated and forming blisters.
Main types of EB
EB can be divided into four main types: epidermolytic blistering syndrome simple type (EBS), dysplastic type (DEB), junctional type (JEB) and Kindler syndrome. Among them, epidermolytic vesicular disease simple form is the most common.
Different types of EB have their own characteristics. EBS mainly affects the hands and feet, and blisters usually form at the contact and friction areas.
In addition, the junctional type of EB is characterized by blisters in the basement membrane area and is particularly sensitive to friction on the hands and feet, while the dysplastic type involves severe damage to the skin and other organs.
Pathophysiology
Normal skin consists of an outer layer of epidermis and an inner layer of dermis. In healthy individuals, there are protein anchors between the two layers that prevent them from moving independently of each other. However, in people with EB, these protein anchors are missing, resulting in extremely fragile skin where even the slightest friction or pressure can produce blisters and painful wounds.
Diagnosis and Treatment
Although the symptoms of EB are obvious, diagnosis usually requires confirmation through a skin biopsy or genetic testing. The current treatment of this disease mainly focuses on wound care, pain control and infection prevention, but there is no radical cure. In recent years, research on EB has gradually attracted attention. For example, it is necessary to explore how to change the keratin mixture in the skin to reduce the formation of blisters.
In recent research, some natural compounds, such as glucosinolates in broccoli, have even been found to be effective in reducing blister formation in mouse models.
In addition, methods such as bone marrow transplantation and gene correction have also shown good prospects in some cases. These new treatments require further clinical validation, but they provide hope for future treatments.
Social impact and cultural awareness
Many people still know little about EB, which not only affects patients' quality of life but also prevents them from receiving better medical care. In order to raise awareness of this rare disease, many patient families and social organizations are actively promoting it.
For example, Pearlfruit frontman Eddie Vedder has established a non-profit organization focused on raising funds for EB research.
As society gradually pays more attention to rare diseases, efforts devoted to the research and treatment of this disease will surely increase in the future and become an important driving force to improve the lives of EB patients.
Only through the joint efforts of everyone can the following interventions and therapies be carried out smoothly to improve the living conditions and health status of EB patients. How should we continue to advance research and treatment in this area?
