Epidermolysis Bullosa

Duffy, A. (2014). ‘Butterfly child’ dreams of the Northern Lights. Ottawa Citizen. Retrieved from http://www.ottawacitizen.com/

El Hachem, M., Zambruno, G., Bourdon-Lanoy, E., Ciasulli, A., Buisson, C., Hadj-Rabia, S., … Bodemer, C. (2014, 20 May). Multicentre consensus recommendations for skin care in inherited epidermolysis bullosa. Orphanet Journal of Rare Diseases 2014, 9:76. doi:10.1186/1750-1172-9-76.

Gavacs, M. (2014). Occupational therapy intervention in recessive dystrophic epidermolyis bullosa. The Association of Children's Prostetic -Orthotic Clinics, 10:4. Retrieved from http://www.acpoc.org/

Genetic Skin Disease Center. (2014). Epidermolysis bullosa clinic frequently asked questions. Retrieved from http://dermatology.stanford.edu/

Life with EB [Photograph]. Retrieved November 19, 2014, from: http://geneticmutationruebe3.wikispaces.com/Epidermolysis+bullosa+(EB)

Maisy [Photograph]. (2010). Retrieved November 14, 2014, from: http://www.thisislocallondon.co.uk/indepth/features/8670547.ORPINGTON__Three_hours_of_heartache_for_Epidermolysis_Bullosa_sufferer/

Mayo Clinic Staff. (2014). Epidermolysis bullosa. Retrieved from http://www.mayoclinic.com/

Nail Dystrophy [Photograph]. (2014). Retrieved November 19, 2014, from http://img.medscape.com/pi/emed/ckb/dermatology/1048885-1062939-589tn.jpg

National Rehab. (2014, January 1). Wound care. Retrieved from http://ebnurses.org/

Pagliarello C. & Tabolli S. (2010). Factors affecting quality of life in epidermolysis bullosa. Expert Review of Pharmacoeconomics & Outcomes Research. Retrieved from http://dx.doi.org/10.1586/erp.10.28.

Puvabanditsin, S. (2013, June 7). Pediatric epidermolysis bullosa. Retrieved from http://emedicine.medscape.com/

ROM Testing [Photograph]. (2014). Retrieved November 19, 2014, from: http://geneticmutationruebe3.wikispaces.com/Epidermolysis+bullosa+(EB)

Skin Layers (DebRA) [Photograph]. (2014). Retrieved November 19, 2014, from: http://www.niams.nih.gov/Health_Info/Epidermolysis_Bullosa/images/skin_structure.png

[Untitled photograph of Alwyn Cream]. Retrieved November 19, 2014, from https://www.alwyn.com/psoriasis-relief-cream/

[Untitled photograph of child with butterfly] Retrieved November 19, 2014, from: http://www.debra.org.nz/support/img/p-logan-butterfly.jpg

[Untitled photograph of pill bottle]. Retrieved November 19, 2014, from: http://www.rxapps.com/the-pandemic-of-medication-adherence/

Wrapping [Photograph]. (2014). Retrieved November 19, 2014, from: http://www.sleepingangel.com/ebworld/images/torso7A191.jpg

Medication: Anti-histamines

• First Generation
• Diphenhydramine
• Hydroxyzine
• Cyproheptadine
• Second Generation
• Loratidine
• Cetirizine
• Antidepressants

References

Impact of Pathology

Medication- Wounds

http://ottawacitizen.com/news/local-news/butterfly-child-dreams-of-the-northern-lights

• Pseudosyndactyly, or mitten deformity
• In dystrophic epidermolysis bullosa, constant injury then scarring can result in fusion of the fingers and/or toes.
• Can be fixed with surgery but likely to re-occur
• Because it is present from birth, scarring can interfere with growth of fingers.

• Bacitracin
• Polysporin
• Over-the-counter antibiotic ointment
• Emu oil
• Aloe vera products
• Alwyn Cream ®

Pathology

Pain Management

• Epidermolysis Bullosa Simplex
• Blisters in the basal or spinous layer of the epidermis
• Caused by a defect in the gene that produces keratin
• Junctional Epidermolysis Bullosa
• Epidermis separates from the basement membrane, forming a blister cavity in the lamina lucida of the basement membrane
• Defect in the gene that creates fibrous attachment between epidermis and basement membrane
• Dystrophic Epidermolysis
• Basement membrane remains attached to the epidermis, but blister cavity forms deeper in the basement membrane (lamina densa).
• Defect in a gene that creates collagen
• Kindler Syndrome- occurs in various layers of the skin
• Epidermolysis Bullosa Acquisita- immune response where body attacking healthy tissue

• Mild Pain
• Anti-inflammatory Ibuprofen
• Moderate Pain
• Opioids Codeine
• Acetaminophen Tylenol #3 or Vicodin
• Severe Pain
• Opioids Morphine

Prognosis

• EBS
• Normal life expectancy (mild)
• Typically causes significant morbidity
• JEB
• Normal life expectancy (mild)
• Higher infant mortality rate
• Due to more severe symptoms
• DEB
• Normal life expectancy (mild)
• Higher rates of squamous cell carcinoma
• Death at infancy due to inflection, fluid loss, or electrolyte imbalance

Effect on Bodily Systems

• Integumentary System
• EB Simplex (EBS)
• Level of split within basal keratinocyte
• Blistering limited to hands and feet (mild)
• Generalized blistering covering body (severe)
• Junctional EB (JEB)
• Level of split within lamina lucida
• Enamel hypoplasia
• Nail involvement
• Dystrophic EB (DEB)
• Level of split deep to lamina densa
• Visceral involvement
• Loss of function
• Pseudosyndactyly - “mitten deformities”
• Nail dystrophy
• Scarring alopecia

Disease Process

• Diagnosed shortly after birth
• Characterized by location and severity of wounds
• Each type vary in severity
• Blistering upon the skin and sometimes mucous membranes in response to mild trauma such as friction
• Vary in affected layer of skin
• Require painful daily skin care regimens

Complications

• Infection
• Sepsis
• Deformities
• Malnutrition & Anemia
• Dehydration
• Constipation
• Eye disorders
• Skin cancer
• Death

Symptoms

• Fluid-filled blisters on the skin, especially on hands and feet
• Deformity or loss of fingernails and toenails
• Internal blistering, including on the vocal cords, esophagus and upper airway
• Skin thickening on the palms and soles of the feet
• Scalp blistering, scarring and hair loss
• Think appearing skin
• Tiny white skin bumps or pimples
• Dental problems such as tooth decay
• Difficulty swallowing

Symptoms may not appear until a toddler first begins to walk or until an older child begins new physical activities

Prevalence & Incidence

• The exact prevalence of EB is unknown
• EB is estimated to occur in 20 newborns per 1 million births in the U.S.
• The exact number of EB is unclear, but estimates suggest that 25,000 - 50,000 people in the U.S. have EB. (National Epidermolysis Bullosa Registry)
• Mild variant: as frequently as 1 per 50,000 births
• Severe variant: occur in 1 per 500,000 births annually
• There is no gender, racial, ethnic, or geographical likings for EB.

Etiology

• Dystrophic EB
• May experience mild to severe signs and symptoms
• Becomes apparent at birth or during early childhood
• Can be either dominant or recessive
• Kindler Syndrome (rare)
• Usually becomes apparent at birth or soon after
• Causes patchy discoloring
• Recessive
• EB Acquisita
• Rare and is not inherited
• Causes blisters on the hands, feet, and mucous membranes

Etiology

• Epidermolysis Bullosa is usually inherited
• EB Simplex (most common)
• Begins at birth and affects mainly the soles of the feet and the palms
• Autosomal dominant
• Junctional EB
• Usually severe
• Becomes apparent at birth
• A baby may develop a hoarse-sounding cry due to the blisterings
• Autosomal recessive

Terminology

• Epidermis- the outer layer of the skin
• Lysis- breakdown/ bursting of
• Bulla- blister

Epidermolysis Bullosa

Kaitlin Campione, Haley George, Minhee Kang, Gabby Mazza, Alora McDonnell, Kristen Raspanti