Epidermolysis bullosa simplex

1. Epidermolysis bullosa simplex Anndrea Kelly and Erika Dye

2. Additional Forms • Junctionalepidermolysisbullosa • Dystrophic epidermolysisbullosa • Hemidesmosomalepidermolysisbullosa • EBA – auto immune disorder, rarest.

3. Symptoms • 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

4. Causes • usually inherited in an autosomaldominant manner, but in rare families, can be inherited in an autosomalrecessive manner • For autosomaldominant 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%.

5. Location of Defective Gene KRT5 KRT14 Gene • Mutations in the KRT14 and KRT5 genes • The PLEC1 • Mutations in the KRT5 and KRT14 genes are responsible for the four major types of epidermolysisbullosasimplex • In rare cases of epidermolysisbullosa simplex, no KRT5 or KRT14 mutations have been identified. PLEC1

6. Diagnosis • 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. • Skin biopsy • Molecular Genetic Testing • Clinical testing

7. Treatment • 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 epidermolysisbullosa include protein and gene therapy

8. Preventing Nutritional Problems • 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.

9. Advances in Medicine • There is no cure for the disorder. • Two cases with keratin gene abnormality

10. Pedigree Chart

11. Impact of Disease • 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

12. Bibliography • 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