What is epidermolysis bullosa simplex?

Epidermolysis bullosa is a group of genetic conditions that cause the skin to be very fragile and to blister easily. Erosions and blisters form in response to minor injury or friction, such as rubbing or scratching. Epidermolysis bullosa simplex (EBS) is one of the major forms of epidermolysis bullosa. The signs and symptoms of this condition vary widely among affected individuals. Blistering may primarily affect the hands and feet in mild cases, and the blisters usually heal without leaving scars. Severe cases of this condition involve widespread blistering that can lead to infections, dehydration, and other medical problems. Severe cases may be life-threatening in infancy. Researchers have identified four major types of epidermolysis bullosa simplex. Although the types differ in severity, their features overlap significantly, and they are caused by mutations in the same genes. Most researchers now consider the major forms of this condition to be part of a single disorder with a range of signs and symptoms. The mildest form of epidermolysis bullosa simplex, known as the WeberCockayne type, is characterized by skin blistering that begins anytime between childhood and adulthood and is usually confined to the hands and feet. Later in life, skin on the palms and soles of the feet may thicken and harden (hyperkeratosis). In the Koebner type, blisters appear at birth or in early infancy and are more widespread. Another form of the disorder, called epidermolysis bullosa simplex with mottled pigmentation, is characterized by patches of darker skin on the trunk, arms, and legs that fade in adulthood. This form of the disorder also involves skin blistering from early infancy, hyperkeratosis of the palms and soles, and abnormal nail growth. The Dowling-Meara type is the most severe form of epidermolysis bullosa simplex. Extensive, severe blistering can occur anywhere on the body, including the inside of the mouth, and blisters may appear in clusters. Blistering is present from birth and tends to improve with age. Affected individuals also experience abnormal nail growth and hyperkeratosis of the palms and soles. Researchers have identified another skin condition characteristic of epidermolysis bullosa simplex, which they call Ogna type. It is caused by mutations in a gene that is not associated with the other types of epidermolysis bullosa simplex. It is unclear whether Ogna type is a subtype of epidermolysis bullosa simplex or represents a separate form of epidermolysis bullosa.

How

common

is

epidermolysis

bullosa

simplex?
The exact prevalence of epidermolysis bullosa simplex is unknown, but this condition is estimated to affect 1 in 30,000 to 50,000 people. The WeberCockayne type is the most common form of the condition.

What genes are related to epidermolysis bullosa simplex?

Mutations in the KRT5 and KRT14 genes are responsible for the four major types of epidermolysis bullosa simplex. These genes provide instructions for making proteins called keratin 5 and keratin 14. These tough, fibrous proteins work together to provide strength and resiliency to the outer layer of the skin (the epidermis). Mutations in either the KRT5 or KRT14 gene cause cells in the epidermis to become fragile and easily damaged. As a result, the skin is less resistant to friction and minor trauma and blisters easily. In rare cases of epidermolysis bullosa simplex, no KRT5 or KRT14 gene mutations have been identified. Mutations in another gene, PLEC, have been associated with the uncommon Ogna type of the condition. The PLEC gene provides instructions for making a protein called plectin, which helps attach the epidermis to underlying layers of skin. Researchers continue to search for PLEC gene mutations in people with epidermolysis bullosa simplex. They are also working to determine how these mutations lead to the major features of the condition. Read more about the KRT5, KRT14, and PLEC genes.

How do people inherit epidermolysis bullosa simplex?

Epidermolysis bullosa simplex is usually inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Some affected people inherit the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family. In rare cases, epidermolysis bullosa simplex is inherited in an autosomal recessive pattern. Autosomal recessive inheritance means the condition results when two copies of the gene in each cell are altered. The parents of an individual with an autosomal recessive disorder typically each carry one

copy of the altered gene, but do not show signs and symptoms of the disorder.

Where can I find information about diagnosis, management, or treatment of epidermolysis bullosa simplex?
These resources address the diagnosis or management of epidermolysis bullosa simplex and may include treatment providers.

Gene Review: Epidermolysis Bullosa Simplex Gene Tests: Epidermolysis Bullosa Simplex Gene Tests: Epidermolysis Bullosa Simplex, Ogna Type Gene Tests: Epidermolysis Bullosa Simplex with Muscular Dystrophy MedlinePlus Encyclopedia: Epidermolysis bullosa

You might also find information on the diagnosis or management of epidermolysis bullosa simplex in Educational resources and Patient support. To locate a healthcare provider, see How can I find a genetics professional in my area? in the Handbook.

Where can I find additional information about epidermolysis bullosa simplex?

You may find the following resources about epidermolysis bullosa simplex helpful. These materials are written for the general public.

MedlinePlus - Health information (2 links) Genetic and Rare Diseases Information Center - Information about genetic conditions and rare diseases (3 links) Additional NIH Resources - National Institutes of Health National Institute of Arthritis and Musculoskeletal and Skin Diseases

Educational resources - Information pages (4 links) Patient support - For patients and families (7 links)

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

Gene Reviews - Clinical summary Gene Tests - DNA tests ordered by healthcare professionals (3 links) ClinicalTrials.gov - Linking patients to medical research PubMed - Recent literature Online Books - Medical and science texts (2 links) OMIM - Genetic disorder catalog (4 links)

What other names do people epidermolysis bullosa simplex?

use

for

Epidermolysis Bullosa Simplex, Generalized Epidermolysis Bullosa Simplex, Localized

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines and How are genetic conditions and genes named? in the Handbook.

What if I still have specific questions about epidermolysis bullosa simplex?

Ask the Genetic and Rare Diseases Information Center .

Where can I find general information about genetic conditions?

The Handbook provides basic information about genetics in clear language.

What does it mean if a disorder seems to run in my family? What are the different ways in which a genetic condition can be inherited? If a genetic disorder runs in my family, what are the chances that my children will have the condition? Why are some genetic conditions more common in particular ethnic groups?

These links provide additional genetics resources that may be useful.

Genetics and health Resources for Patients and Families Resources for Health Professionals

What glossary understanding simplex?

definitions help with epidermolysis bullosa

autosomal ; autosomal dominant ; autosomal recessive ; blister ; cell ; dehydration ; epidermis ; gene ; infection ; inheritance ; injury ; keratin ; mutation ; new mutation ; pigmentation ; prevalence ; protein ; recessive ; sign ; symptom ; trauma You may find definitions for these and many other terms in the Genetics Home Reference Glossary. See also Understanding Medical Terminology. References (7 links)

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook. Published: May 8, 2011 Definition Epidermolysis bullosa is a group of inherited disorders in which skin blisters develop in response to minor injury.

Treatment The goal of treatment is to prevent blisters from forming and complications. How much treatment is needed depends on how severe the disease is.

Recommendations often include avoiding skin damage (trauma) and hot environments.

To prevent infection take very good care of the skin, especially if any blistered areas become crusted or exposed (raw). Follow your health care provider's instructions closely. You might need regular whirlpool therapy and to apply antibiotic ointments to wound-like areas. Your health care provider will let you know if you need a bandage or dressing, and if so, what type to use. For swallowing difficulties, your may need to use oral steroids for short periods of time. Long-term steroids for epidermolysis bullosa is generally not recommended. If you also have candida in the mouth or esophagus, you will also need to take medication for that infection. Good dental hygiene is very important, including regular dental visits. It is best to see a dentist who has experience treating people with epidermolysis bullosa. Proper nutrition is also important. When you have a lot of skin injury, you may need extra calories and protein to help you recover. Work closely with a nutritionist. If you have blisters or complications in the mouth or esophagus, avoid eating hard or brittle foods such as pretzels, nuts, and chips. Eating soft foods can help prevent making the sores worse. Working with a physical therapist can help you keep the full range of motion in the joints and minimize contractures.

Skin grafting for denuded or ulcerated areas of the skin may be necessary. Other surgical procedures for complications of epidermolysis bullosa might be recommended. Such surgeries include:

Dilation of the esophagus if there is a narrowing (stricture) Repair of hand deformities Removal of of any squamous cell carcinoma that develops

Other treatments under investigation for epidermolysis bullosa include protein and gene therapy. Epidermolysis bullosa acquisita may be treated with oral steroids and medication that suppresses the immune system. These may, however, increase the risk of infection or damage the liver or kidneys. Studies using interferon are also under way. Prevention Genetic counseling is recommended for prospective parents who have a family history of any form of epidermolysis bullosa.

During pregnanc, chorionic villus sampling to test the fetus is available. For couples at high risk of having a child with epidermolysis bullosa, the test can be done as early as week 8 - 10 of pregnancy. Talk to your obstetrician and genetic counselor. To prevent skin damage and blistering, it may help to wear padding around injury-prone areas such as the elbows, knees, ankles, and buttocks. Contact sports should be avoided. Patients with epidermolysis bullosa acquisita who are on steroids for longer than 1 month may need calcium and vitamin D supplements to prevent osteoporosis. Causes, Incidence, And Risk Factors There are four main types of epidermolysis bullosa:

Dystrophic epidermolysis bullosa Epidermolysis bullosa simplex Hemidesmosomal epidermolysis bullosa Junctional epidermolysis bullosa

Another rare type of epidermolysis bullosa called epidermolysis bullosa acquisita, is an autoimmune disorder. It may be difficult to tell this condition apart from another autoimmune skin disorder called mucous membrane pemphigoid. Identifying the exact type of epidermolysis bullosa is complicated. Even within the main types listed above, there are many subtypes. For example, Weber-Cockayne is the most common form of epidermolysis bullosa simplex. This type involves blistering of the palms and soles and may include excess sweating. Epidermolysis bullosa can vary from minor blistering of the skin to a lethal form involving other organs. The condition generally starts at birth or soon after. Epidermolysis bullosa acquisita usually appears in adults over age 50, although it can occur in children. It is linked to Crohn's disease (an inflammatory bowel disease) and possibly lupus. Adults with this type of epidermolysis bullosa may also have symptoms of these other conditions. Mild cases of epidermolysis bullosa simplex may not be diagnosed until adulthood.

All types of epidermolysis bullosa are usually inherited. Having a family history of the disease, and especially having a parent with it, is a risk factor. Symptoms Symptoms depend on the type of epidermolysis bullosa, but can include:

Alopecia (hair loss) Blisters aound the eyes and nose Blisters in or around the mouth and throat, causing feeding problems or swallowing difficulty Blisters on the skin as a result of minor injury or temperature change Blistering that is present at birth Dental problems such as tooth decay Hoarse cry, cough, or other breathing problems Milia (tiny white bumps or pimples) Nail loss or deformed nails

Signs And Tests Your doctor may suspect epidermolysis bullosa based on the appearance of the skin. Tests that are used to confirm the diagnosis:

Genetic testing Skin biopsy (usually with immunofluorescent microscopy) Special microscopic tests of skin samples

tests

or

electron

Special skin tests are used to tell epidermolysis bullosa acquisita in a child from other forms of epidermolysis bullosa. Other tests that may be done:

Blood test for anemia Culture to check for bacterial infection if wounds are healing poorly Upper endoscopy or an upper GI series if there are swallowing or feeding difficulties

Growth curves will be carefully watched in an infant who has, or is believed to have epidermolysis bullosa. If there are contractures, limb range of motion will be tested.

Expectations (Prognosis) The outlook depends on the severity of the illness. Mild forms of epidermolysis bullosa improve with age. In the severe forms, scarring after blisters form may cause:

Contracture deformities (for example, at the fingers, elbows, and knees) and other deformities Feeding and swallowing difficulties if the mouth and esophagus are involved Fused fingers and toes Restricted mobility from scarring

Very serious forms of epidermolysis bullosa have a very high mortality rate. Secondary infection is common. Complications

Anemia Death (junctional epidermolysis bullosis has a high death rate, but other, milder forms may not reduce life expectancy at all) Esophageal stricture Eye disorders, including blindness Infection, including sepsis Loss of function in the hands and feet Muscular dystrophy Periodontal disease Severe malnutrition caused by feeding difficulty, leading to failure to thrive Squamous cell skin cancer Calling Your Health Care Provider

If your infant has any blistering shortly after birth, call your health care provider. If you have a family history of epidermolysis bullosa and plan to have children, you may want to have genetic counseling.

Dr. Krishna S Chaudhari is a is a board certified Cosmetic surgeon of International college of cosmetic surgery and Mesotherapist, who practices in Pune, Maharashtra, India for last 31 years, where he has worked from 1978. Prior to this, he graduated from the University of Pune with a Bachelor of Medicine & surgery in 1975. In surgery, Dr. Chaudhari received his training at the University of Mumbai, securing masters degree in 1978. He was in Zurich University Switzerland for specialized training in Head & neck surgery. During his long surgical practice of 31 years he has specialized in cosmetic surgery. Dr.Chaudhari also has a special interest in hair transplant, nose surgery & liposuction, having received training from world renowned surgeons from world including Dr.Macallow, Dr.Bernstein, Dr.Gubiesh Dr.William Coleman, Dr.Fournier, Dr.Seager & Dr.Serdev.. He was one of the first to use the Micrografting FUT technique for hair transplant, tumescent anesthesia for liposuction, in Pune Dr. Chaudhari belongs to many professional cosmetic & dermatosurgery societies & participates regularly in national & international conferences,seminars & workshops. Dr. Chaudhari operates an approved well equipped day care Surgical Facility at Cosmetic laser surgery center, Prasad Chambers, Karve road, Pune.. In doing so, he places patient safety paramount. Clinic has got all the latest facilities, equipment & lasers required for cosmetic surgery. He is attached to premier hospitals in City. Dr Chaudhari is a founder member of Indian society of facial plastic surgeons. Life member of Cosmetology society of India Association of cutaneous surgeones Federation of reconstructive & cosmetic surgeones. Indian assocciation of otolayngologists of India Dr. Chaudhari teaches other doctors regularly, including those studying rhinoplasty,hairtransplant & liposuction & laser surgery.he delivers lectures regularly for local organizations & his articles appear in important magazines & news papers. His hobbies include photography, Moutaneering , clay sculpting & wood carving. He is happily married to Mrs Arti Chaudhari, a housewife, and they have one daughter & a son. If you would like further information, or for appointment please call 91-20-25441103

Thank you. Dr. Krishna S Chaudhari

Dr. Venkat Ratnam Attili - MD.

: 61 Present address : Consultant Dermatologist, Visakha Institute of Skin & Allergy Marripalem, Visakhapatnam 530 018. India Phones: 0891-2558185, Mobile- 98486 33234 Diplomas &: MBBS (1969), Dip.Derm. (1973), MD. (1975) : Registrations

General Medical Council, UK. Indian Medical Council. Medical Council of Zambia Medical Council of Zimbabwe.

progression

: Senior Registrar, Department of Medicine University Teaching Hospital, Lusaka, Zambia (1976-1977) Consultant Dermatologist & Lecturer, School of Medicine University Teaching Hospital, Lusaka, Zambia (1977-1980) Associate Professor & Head of department of dermatology. University Teaching Hospital, Lusaka, Zambia (1980-1983)

Consultant Dermatologist, Salisbury clinic, Harare, Zimbabwe, (1983-1985) Consultant Dermatologist Visakha Institute of Skin & Allergy, Visakhapatnam AP, India (Current position) Administrative, : Responsible for planning and establishment of Dermatology division at the Teaching & University teaching hospital, Lusaka, Zambia. The department was also Experience Recognized as a National reference & Training centre for STDs. Adviser to the Ministry of Health, Zambia in planning and organizing a national control Programme for STDs. Research work on epidemiological aspects of Gonorrhea and Syphilis in Zambia in collaboration with CDC, Atlanta, WHO and IDRC, Canada-Results published in various international journals.

Tele-Consultation is my main selling point. This is the worlds first and only Dermatology Tele-Consultation service. Upload your details to www.onlineskinspecialist.com with a brief summary of your problem. Pictures are like gold dust Dermatology is a very visual science. Once payment is processed ( 700 Rs / 15), I shall give you a call within 24 hours and discuss your problem. Prescriptions can be emailed/ faxed subsequently as per your requirements. I can even arrange for the medicines to be posted out to you (only if you wish), from the pharmacy attached to our Dermatology Clinic in India. Sometimes this might work out cheaper than buying medicines in your home country, especially since medicines (even reputed brands) are quite cheap in India.

What is epidermolysis bullosa simplex?

Epidermolysis bullosa is a group of genetic conditions that cause the skin to be very fragile and to blister easily. Erosions and blisters form in response to minor injury or friction, such as rubbing or scratching. Epidermolysis bullosa simplex (EBS) is one of the major forms of epidermolysis bullosa. The signs and symptoms of this condition vary widely among affected individuals. Blistering may primarily affect the hands and feet in mild cases, and the blisters usually heal without leaving scars. Severe cases of this condition involve widespread blistering that can lead to infections, dehydration, and other medical problems. Severe cases may be life-threatening in infancy. Researchers have identified four major types of epidermolysis bullosa simplex. Although the types differ in severity, their features overlap significantly, and they are caused by mutations in the same genes. Most researchers now consider the major forms of this condition to be part of a single disorder with a range of signs and symptoms. The mildest form of epidermolysis bullosa simplex, known as the WeberCockayne type, is characterized by skin blistering that begins anytime between childhood and adulthood and is usually confined to the hands and feet. Later in life, skin on the palms and soles of the feet may thicken and harden (hyperkeratosis). In the Koebner type, blisters appear at birth or in early infancy and are more widespread. Another form of the disorder, called epidermolysis bullosa simplex with mottled pigmentation, is characterized by patches of darker skin on the trunk, arms, and legs that fade in adulthood. This form of the disorder also involves skin blistering from early infancy, hyperkeratosis of the palms and soles, and abnormal nail growth. The Dowling-Meara type is the most severe form of epidermolysis bullosa simplex. Extensive, severe blistering can occur anywhere on the body, including the inside of the mouth, and blisters may appear in clusters. Blistering is present from birth and tends to improve with age. Affected individuals also experience abnormal nail growth and hyperkeratosis of the palms and soles. Researchers have identified another skin condition characteristic of epidermolysis bullosa simplex, which they call Ogna type. It is caused by mutations in a gene that is not associated with the other types of epidermolysis bullosa simplex. It is unclear whether Ogna type is a subtype of epidermolysis bullosa simplex or represents a separate form of epidermolysis bullosa.

How

common

is

epidermolysis

bullosa

simplex?
The exact prevalence of epidermolysis bullosa simplex is unknown, but this condition is estimated to affect 1 in 30,000 to 50,000 people. The WeberCockayne type is the most common form of the condition.

What genes are related to epidermolysis bullosa simplex?

Mutations in the KRT5 and KRT14 genes are responsible for the four major types of epidermolysis bullosa simplex. These genes provide instructions for making proteins called keratin 5 and keratin 14. These tough, fibrous proteins work together to provide strength and resiliency to the outer layer of the skin (the epidermis). Mutations in either the KRT5 or KRT14 gene cause cells in the epidermis to become fragile and easily damaged. As a result, the skin is less resistant to friction and minor trauma and blisters easily. In rare cases of epidermolysis bullosa simplex, no KRT5 or KRT14 gene mutations have been identified. Mutations in another gene, PLEC, have been associated with the uncommon Ogna type of the condition. The PLEC gene provides instructions for making a protein called plectin, which helps attach the epidermis to underlying layers of skin. Researchers continue to search for PLEC gene mutations in people with epidermolysis bullosa simplex. They are also working to determine how these mutations lead to the major features of the condition. Read more about the KRT5, KRT14, and PLEC genes.

How do people inherit epidermolysis bullosa simplex?

Epidermolysis bullosa simplex is usually inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Some affected people inherit the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family. In rare cases, epidermolysis bullosa simplex is inherited in an autosomal recessive pattern. Autosomal recessive inheritance means the condition results when two copies of the gene in each cell are altered. The parents of an individual with an autosomal recessive disorder typically each carry one

copy of the altered gene, but do not show signs and symptoms of the disorder.

Where can I find information about diagnosis, management, or treatment of epidermolysis bullosa simplex?
These resources address the diagnosis or management of epidermolysis bullosa simplex and may include treatment providers.

Gene Review: Epidermolysis Bullosa Simplex Gene Tests: Epidermolysis Bullosa Simplex Gene Tests: Epidermolysis Bullosa Simplex, Ogna Type Gene Tests: Epidermolysis Bullosa Simplex with Muscular Dystrophy MedlinePlus Encyclopedia: Epidermolysis bullosa

You might also find information on the diagnosis or management of epidermolysis bullosa simplex in Educational resources and Patient support. To locate a healthcare provider, see How can I find a genetics professional in my area? in the Handbook.

Where can I find additional information about epidermolysis bullosa simplex?

You may find the following resources about epidermolysis bullosa simplex helpful. These materials are written for the general public.

MedlinePlus - Health information (2 links) Genetic and Rare Diseases Information Center - Information about genetic conditions and rare diseases (3 links) Additional NIH Resources - National Institutes of Health National Institute of Arthritis and Musculoskeletal and Skin Diseases

Educational resources - Information pages (4 links) Patient support - For patients and families (7 links)

You may also be interested in these resources, which are designed for

healthcare professionals and researchers.

Gene Reviews - Clinical summary Gene Tests - DNA tests ordered by healthcare professionals (3 links) ClinicalTrials.gov - Linking patients to medical research PubMed - Recent literature Online Books - Medical and science texts (2 links) OMIM - Genetic disorder catalog (4 links)

What other names do people epidermolysis bullosa simplex?

use

for

Epidermolysis Bullosa Simplex, Generalized Epidermolysis Bullosa Simplex, Localized

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines and How are genetic conditions and genes named? in the Handbook.

What if I still have specific questions about epidermolysis bullosa simplex?

Ask the Genetic and Rare Diseases Information Center .

Where can I find general information about genetic conditions?

The Handbook provides basic information about genetics in clear language.

What does it mean if a disorder seems to run in my family? What are the different ways in which a genetic condition can be inherited? If a genetic disorder runs in my family, what are the chances that my children will have the condition? Why are some genetic conditions more common in particular ethnic groups?

These links provide additional genetics resources that may be useful.

Genetics and health Resources for Patients and Families

Resources for Health Professionals

What glossary understanding simplex?

definitions help with epidermolysis bullosa

autosomal ; autosomal dominant ; autosomal recessive ; blister ; cell ; dehydration ; epidermis ; gene ; infection ; inheritance ; injury ; keratin ; mutation ; new mutation ; pigmentation ; prevalence ; protein ; recessive ; sign ; symptom ; trauma You may find definitions for these and many other terms in the Genetics Home Reference Glossary. See also Understanding Medical Terminology. References (7 links)

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook. Reviewed: April 2007 Published: May 8, 2011