Epidermolysis Bullosa or EB, is a rare, genetic skin disease. There are many different variants of the disease, with different symptom severities and root causes. These variants all manifest as painful, blisters on the skin and internal organs as a result of friction and trauma.

Three types of EB, with some variation, all caused by a different genetic mutation, have been characterized:  EB simplex (EBS), Junctional EB (JEB) and Dystrophic EB (DEB).  EBS is the most common form of EB and often the mildest, although some types of EBS (especially generalized EBS) can be quite debilitating.  JEB and DEB are relatively less common and generally affect the patient more severely.

What are the symptoms of EB?

EB is characterized by mild to severe blistering on the skin, usually beginning in infancy and continuing into adulthood.  Blisters or sores on the mouth, throat and respiratory tract also characterize severe EB.  Thickened skin on the palms of the hands or soles of the feet and thickening or absence of fingernails/toenails may also be present.  Sometimes scarring may also lead to fusing of toes and fingers that can limit functional use of the hands and feet.  Anemia is sometimes common in severely affected individuals, which may also lead to growth retardation.

How many people are affected by this disease?

Based on a large epidemiology study that was supported by the National Institutes of Health (NIH), EB is estimated to affect approximately 1 out of every 20,000 live births in the United States for the years 1986-1990.

It is estimated that there are about 15,000 to 25,000 people living with the disease in the US, although estimates vary considerably.

How did I inherit this disease?

The genes, that is the blueprints for making everything in the body and that are responsible for causing EB, are inherited by way of the X and Y chromosomes from parents.  Some forms of the disease have only one set of malfunctioning genes present in one chromosome, either the X or the Y (autosomal recessive disease), while other forms require that both chromosomes contain these abnormal genes (autosomal dominant disease).  These genes are normally responsible for making building blocks called proteins that “glue” the different layers of the skin together.  Patients with EB make abnormal proteins and sometimes do not even make these proteins at all based on faulty genetic information.

Is there a cure or any medical treatments for EB?

There are individuals with mild EB that may require little or no treatment and who never seek medical care.  Patients with moderate or severe forms of EB require family supportive care and often their quality of life is poor.  Apart from protecting their skin from trauma, patients with moderate or severe forms of EB may require the services of multiple healthcare providers, including physicians and nurses, as well as nutritionists and counselors who can provide psychological support for patients and their family members.

Currently, there is no cure for EB but only supportive care that may include wound care, use of bandages as well as pain management.  Blisters or blistering areas are wrapped in bandages that have to be changed frequently.  Preventing infection in affected areas is also a difficult task.

Intense research is on-going currently, both at the medicinal and genetic level by industry, government and academic groups.  Academic research in skin cell functional protein replacement is also active.

Where can I get more information and support?

Additional information and support can be provided by organizations such as DEBRA, listed below:


Dystrophic Epidermolysis Bullosa Research Association of America (DEBRA of America)
75 Broad Street
Suite 300
New York, NY 10004
Toll-free: 855-CURE-4-EB
Telephone: 212-868-1573
Fax: 212-868-9296
E-mail: staff@debra.org
Website: http://www.debra.org


DEBRA International
Am Heumarkt 27/3
1030 Vienna
Telephone: +43 1 876 40 30-0
Fax: +43 1 876 40 30-30
E-mail: office@debra-international.org
Website: http://www.debra-international.org/

Localized scleroderma is a chronic autoimmune skin disorder that manifests as excess production of extracellular matrix, specifically collagen, resulting in thickening of the skin and connective tissue.

What are the symptoms of localized scleroderma?

Moderate to severe forms of localized scleroderma can result in significant morbidity, including pain, restricted motion, disfigurement and developmental issues. The localized areas of skin thickening may extend to underlying tissue and muscle. In children this can impair growth and development. Lesions appearing across joints can be painful, impair motion and may be permanent.

How many people are affected by this disorder?

Localized scleroderma encompasses several subtypes – totaling slightly less than 200,000 people in the U.S. – which are classified based on the depth and pattern of the lesion(s). The moderate to severe forms of the disorder include any subtype that affects function or produces symptoms of discomfort, tightness and pain. The U.S. population of patients who are considered to have moderate to severe localized scleroderma is estimated to be approximately 90,000.

Is there a cure or any medical treatments?

Current treatments for localized scleroderma include systemic or topical corticosteroids, UVA light therapy and physical therapy. There are few treatment options to address excessive collagen accumulation in the skin and connective tissue.

Where can I get more information and support?

Additional information and support can be provided by organizations listed below:

American College of Rheumatology

2200 Lake Boulevard NE

Atlanta, GA 30319

Phone: 404-633-3777

Email: advocacy@rheumatology.org

Website: https://www.rheumatology.org/

Childhood Arthritis & Rheumatology Research Alliance

555 East Wells, Suite 1100

Milwaukee, WI 53202

Phone: 414-918-9822

Fax: 414-276-3349

Email: info@carragroup.org

Website: https://carragroup.org/

Scleroderma Foundation

300 Rosewood Drive, Suite 105

Danvers, MA 01923

Phone: (978) 463-5843

Fax: (978) 777-1313

Email: sfinfo@scleroderma.org

Website: http://www.scleroderma.org/