Epidermolysis bullosa simplex

Anndrea Kelly and Erika Dye

Junctional epidermolysis bullosa

Dystrophic epidermolysis bullosa

Hemidesmosomal epidermolysis bullosa

EBA – auto immune disorder, rarest.

Additional Forms

Blistering of your skin Deformity or loss of fingernails

and toenails Internal blistering (throat,

esophagus, upper airway, stomach, intestines and urinary tract)

Skin thickening on palms and soles of the feet

Scalp blistering, scarring and hair loss

Thin-appearing skin Tiny white skin bumps Dental abnormalities, such as

tooth decay from poorly formed tooth enamel

Excessive sweating Difficulty swallowing

Symptoms

usually inherited in an autosomal dominant manner, but in rare families, can be inherited in an autosomal recessive manner

For autosomal dominant EB simplex, affected individuals may have inherited the mutated gene from an affected parent or have the disorder as the result of a gene mutation.

In EB simplex autosomal dominant cases, the chance that an affected person will pass the mutation to each child is 50%.

Causes

Mutations in the KRT14 and KRT5 genes

The PLEC1 Mutations in the KRT5 and

KRT14 genes are responsible for the four major types of epidermolysis bullosa simplex

In rare cases of epidermolysis bullosa simplex, no KRT5 or KRT14 mutations have been identified.

Location of Defective GeneKRT14 Gene

KRT5

PLEC1

The diagnosis of suspected in individuals with fragility of the skin manifested by blistering with little or no trauma. The blisters are nonscarring. Although examination of a skin biopsy is often required to establish the diagnosis, it may not be necessary in some individuals, especially those with a positive family history who have blisters on the palms and soles only.

Diagnosis

• Skin biopsy• Molecular

Genetic Testing• Clinical testing

The goal is to prevent formation of blisters and subsequent complications.

To prevent infection If there are swallowing difficulties,

use of oral steroids for short periods of time may be prescribed

Good dental hygiene is very important, including regular dental visits

Proper nutrition is also important Working with a physical therapist can

help keep the full range of motion in the joints and minimize contractures

Skin grafting Other treatments under investigation

for epidermolysis bullosa include protein and gene therapy

Treatment

In some people with EB, blisters may appear in the mouth and esophagus, making it hard to chew and swallow. Over time, this may lead to nutritional problems. Because nutrition is so important for proper growth and development, it is important that children with EB eat well.◦ Feed infants using a bottle with a

special nipple, an eyedropper, or a syringe.

◦ When the baby is old enough to take in food, add extra liquid to finely mashed food to make it easier to swallow.

◦ Give your children soups, milk drinks, mashed potatoes, custards, and puddings.

◦ Never serve food that is too hot.

Preventing Nutritional Problems

There is no cure for the disorder.

Two cases with keratin gene abnormality

Advances in Medicine

Pedigree Chart

Individuals with EB simplex can live long, fulfilling lives

Anemia Death Esophageal stricture Eye disorders, even blindness Infection, including sepsis Loss of function of the hands and

feet Muscular dystrophy Periodontal disease Severe malnutrition caused by

feeding difficulty Squamous cell skin cancer

Impact of Disease

http://www.debra.org/modules.php?op=modload&name=News&file=article&sid=18#1

http://healthtools.aarp.org/adamcontent/epidermolysis-bullosa?CMP=KNC-360i-GOOGLE-HEA&HBX_OU=50&HBX_PK=epidermolysis_bullosa

http://ghr.nlm.nih.gov/condition=epidermolysisbullosasimplex

http://www.medterms.com/script/main/art.asp?articlekey=24546

http://emedicine.medscape.com/article/1062939-overview

http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=ebs

Bibliography