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Epidermolysis bullosa Market (EB) is a group of rare genetic disorders that result in easy blistering (bullosis) of the skin and membranes of the body. The severity of EB can vary widely, even within the same subtypes. EB ranges from relatively mild forms with small blisters to severe forms that are sometimes fatal in early childhood.
What causes EB?
EB is caused by one or more defects in genes that instruct the skin to produce proteins important for anchoring the epidermis (top layer of skin) to the underlying dermis (lower true skin layer). Without the proper adhesion between these two layers, minor friction or rubbing causes portions of the epidermis to separate from the dermis in the form of blisters or erosions.
The main genes involved in EB encode keratins, lamins, collagen, fibronectin and other structural and adhesion proteins that create the anchor points between the epidermis and dermis. Defects in these genes disrupt the dermal-epidermal junction in the skin basement membrane zone, resulting in blister formation in response to minor mechanical friction or trauma.
Types of EB
There are four main types of EB:
– Epidermolysis bullosa simplex (EBS) – Caused by mutations in keratin 5 or 14 genes and characterized by small blisters confined to areas of friction or minor trauma. Healing usually occurs without scarring.
– Junctional EB (JEB) – Caused by mutations in laminin, collagen or other anchoring filament proteins and presents with large, painful blisters that may lead to scarring or contractures. Internal mucosal tissues may also be involved.
– Dystrophic EB (DEB) – Linked to mutations in type VII collagen gene and presents with large, recurrent, painful blisters that often heal with scarring. Scarring can cause deformity of hands and feet (mitten deformity). Mucosal involvement may cause esophageal stricture.
– Kindler syndrome – Rare form caused by mutations in KIND1 gene. Presents with cutaneous fragility, poikiloderma, and progressive skin atrophy from sun exposure. Mucosal involvement also possible.
Clinical Manifestations
The clinical signs and symptoms of EB vary depending on which type and how severe a patient’s condition is. Common manifestations include:
– Blister formation in skin folds, pressure points, areas of friction or minor trauma from activities of daily living.
– Erosion or loss of skin, nails or mucous membranes.
– Scarring, fibrosis, contractures of hands/feet.
– Nail dystrophy.
– Gastrointestinal complications from JEB or DEB involving esophagus, stomach and intestines.
– Vision or hearing problems can occur from JEB involvement of eyes or ears.
Diagnosis and Tests
A skin biopsy is usually performed to examine the dermal-epidermal junction where separation occurs. Immunofluorescence or electron microscopy may be needed to differentiate specific protein defects. Genetic testing is now available to identify mutations in various EB-causing genes and confirm the type of EB present. Prenatal diagnosis is possible by examining fetal skin or amniotic cells.
Treatment and Management
There is no cure for EB, but treatment focuses on wound and blister care, pain management, preventing infection and joint contractures, nutrition support and other symptomatic therapies.
Dressings are used to protect blisters from trauma while allowing for new skin growth. Topical or oral antibiotics help prevent infection in erosions. Physical and occupational therapy aids mobility while minimization scarring. Nutritional supplements address weight loss or failure to thrive seen in severe forms.
New experimental therapies involve gene therapy, protein replacement, stimulating skin regeneration and grafting. Further research continues into developing effective long-term treatments and ultimately a cure for this serious genodermatosis. Prognosis relies on the specific EB type and severity of symptoms, with many patients living reasonably normal lifespans.
Prognosis and Outlook
The prognosis in EB depends greatly on the specific subtype. While EBS generally has a good prognosis with a normal life expectancy, JEB and severe forms of DEB carry a high risk of complications and mortality in infancy or early childhood due to infection or nutritional problems associated with widespread oropharyngeal or esophageal involvement.
Kindler syndrome has a variable but often worsening prognosis over time from development of skin cancers in sun exposed areas in some patients. Overall, with proper multidisciplinary management of wounds, nutrition, mobility and infectious risks, many individuals with EB today can now live well into adulthood. Treatment advancements continue to improve quality of life and long term outcomes.
In summary, Epidermolysis bullosa Market refers to a spectrum of genetic skin fragility disorders with varying clinical manifestations and severity depending on the underlying genetic defects involved. While currently incurable, diligent medical and supportive care helps optimize prognosis and allows many patients to lead productive lives despite the challenges of their condition. Further research toward novel treatments holds promise to transform long term management of EB in the future.
*Note:
1. Source: Coherent Market Insights, Public sources, Desk research
2. We have leveraged AI tools to mine information and compile it
