Hereditary Epidermolysis Bullosa 遺傳性表皮分解性水泡症

Hereditary Epidermolysis Bullosa (遺傳性表皮分解性水泡症) is a rare genetic disorder characterized by the formation of easily ruptured blisters on the skin and mucous membranes. Due to abnormal skin structure, patients with this disease have skin that is very sensitive to minor friction or injury, which can easily cause blisters and ulcers.

Symptoms

Symptoms of Hereditary Epidermolysis Bullosa include:

• Skin easily forms blisters
• Ulcers in the mouth and throat
• Formation of skin scars
• Abnormal or missing nails
• In severe cases, internal organs may be affected

Types of EB

The main types of EB are categorized based on where blisters form in the layers of the skin:

• Epidermolysis Bullosa Simplex (EBS): Blisters occur in the outermost layer of skin (epidermis).
• Junctional Epidermolysis Bullosa (JEB): Blisters form in the junction between the epidermis and dermis (the deeper skin layer).
• Dystrophic Epidermolysis Bullosa (DEB): Blisters appear in the dermis due to issues with collagen.
• Kindler Syndrome: A less common form that involves multiple layers of the skin.

Causes

This disease is caused by mutations in genes that produce proteins important for the stability of skin and mucous membranes. Hereditary Epidermolysis Bullosa is inherited, typically in an autosomal dominant or recessive manner, depending on the type.

Prevention and Care

Since this is a genetic disorder, preventing its onset is difficult, but blisters can be reduced by avoiding skin friction and trauma. Close medical monitoring and skin care for patients are crucial to improving the quality of life.

Pathophysiology and therapeutic challenges

EB is a group of inherited skin disorders caused by gene mutations affecting the skin's structural integrity, and recent advancements in understanding the disease mechanisms have led to the development of promising therapies like gene and cell therapy.

Epidermolysis Bullosa (NCKU)

Epidermolysis bullosa (EB) is a rare inherited skin disorder characterized by blistering from minimal trauma, with over 30 subtypes classified by molecular abnormalities, and while there is no cure, advancements in gene and cell therapies offer hope for future treatments.

Mutational analysis of epidermolysis bullosa in Taiwan by whole

A study of 77 Taiwanese patients with epidermolysis bullosa (EB) identified 60 mutations, including 22 novel ones, demonstrating that whole-exome sequencing is an effective first-line diagnostic tool for EB, with RNA sequencing useful for identifying splice-site mutations.

New Hope for Treating the 4 Main Types of Epidermolysis Bullosa

Recent advancements in the understanding of epidermolysis bullosa have resulted in a fine-tuning of the classification of the disease group as well as the development of new possible therapies.

Epidermolysis Bullosa (NIH)

Epidermolysis bullosa (EB) defines a prototypic group of rare, inherited dermatoses, characteristically featuring skin fragility secondary to structural defects in the dermo-epidermal junction.

Inherited epidermolysis bullosa: clinical and therapeutic aspects

Inherited epidermolysis bullosa (EB) is a heterogeneous group of genetic disorders that present with skin and, in some cases, mucosal fragility, predisposing patients to the development of blisters

Diacerein 1% Ointment for the Treatment of Epidermolysis Bullosa Simplex: A Randomized, Controlled Trial

In epidermolysis bullosa simplex (EBS), epithelial structural fragility results in blisters and erosions. Diacerein 1% ointment has been shown to reduce this blistering.

Management of Skin Lesions in Patients with Epidermolysis Bullosa by Topical Treatment: Systematic Review and Meta-Analysis

Epidermolysis bullosa (EB) is the overarching term for a set of rare inherited skin fragility disorders that result from mutations in at least 20 different genes.

EB Research Network

The EB Research Network is a collaborative global network of organizations, researchers, and advocates working together to advance research and find treatments for Epidermolysis Bullosa.

Debra of America

Debra of America is a nonprofit organization dedicated to supporting people affected by Epidermolysis Bullosa (EB) through advocacy, research funding, and resources for individuals and families.

Taiwan EB Association

The EB Association Taiwan is dedicated to improving the lives of individuals affected by Epidermolysis Bullosa (EB) in Taiwan through advocacy, support services, and raising awareness of this rare genetic condition.