Monday, September 19, 2011
Epidermolysis bullosa (EB) is a heterogeneous group of inherited
mechanobullous diseases. Three basic forms are recognized, based on
the electron microscopic level of the blister formation. The ideal
strategy would be to correct the genetic abnormality; however,
since this is not yet possible, the strategy is to avoid cutaneous
trauma if possible and to heal the wounds that result from injury
to the skin. Patients with these diseases are best treated in a
tertiary care setting. For this reason, the basic principles in the
management of all cases of EB will be described in detail, while
limited specific therapy for each group is described in the
Basic Therapeutic Principles
- Establishing the diagnosis: There is clinical overlap, so
virtually all cases require electron microscopy or
immunofluorescent mapping for correct diagnosis. This is critical
for therapy, genetic counseling, and prognosis.
- Genetic counseling: Since these diseases are inherited, genetic
counseling is essential. Prenatal diagnosis via DNA testing is
available for patients in whom previous pregnancies resulted in
severely affected children.
- Family education: Some forms of EB are devastating, and demand
a significant commitment on the part of the patient, the family,
and health care providers. The Dystrophic Epidermolysis Bullosa
Research Association of America (DebRA) (5 West 36thStreet, Suite
404, New York, NY 10018, telephone 212-868-1573,
http://www.debra.org email email@example.com) has been a
pioneer patient support and education group. Every family with
severely affected children should be advised to contact this group
for support and continual education.
- Trauma: Even very minor trauma induces lesions. Efforts to
reduce trauma by protection and lubrication are essential to care.
Nurse specialists at special EB centers are valuable in training
nurses caring for EB patients, and are also key in training the
family in the transition of the neonate to home care.
- Infection: Healing is diminished by secondary infection of skin
lesions, usually by S. aureus or beta-hemolytic
streptococci. Topical antibacterial ointments, specifically
mupirocin, can be of great help, but treatment should be limited to
short courses, as resistance can emerge. When obvious infection
occurs, administer an oral semisynthetic penicillin (dicloxacillin)
or a first-generation cephalosporin. Perform cultures, as
antibiotic resistance may occur.
- Blister care: The normal skin forming the roof of the blister
should be left on as long as possible; it is the optimal biologic
dressing. If the hydrostatic pressure of the fluid in the blister
tends to increase its size, open the blister and drain the fluid.
If a blister becomes infected, drain it and remove the roof. For
open erosions, cleanse gently with saline and cover with petrolatum
impregnated soft fine-mesh gauze, or alternatively, a soft silicone
wound care dressing, the later left on for 7 days.
Dystrophic Epidermolysis Bullosa - Dominant and Recessive
Dystrophic Epidermolysis Bullosa
Numerous forms of dystrophic EB occur. Patients having
dominantly inherited forms tend to do better, and, although
scarring occurs, this subgroup does fairly well and may improve
considerably with age. The generalized recessive dystrophic type
(RDEB) is often a devastating progressive disease with severe
- The management of RDEB requires a team approach. In addition to
skin care, nutritional support, physical therapy, psychological
support, and good dental care are all essential. Patients should be
referred to specialists in each of these fields for regular visits.
Ocular, GI tract, GU tract, and respiratory tract complications
often occur, usually as a result of scarring. Specialists may need
to be consulted.
- Malnutrition, constipation, and anemia are common. Caloric
needs are increased by constant skin and blood loss. Transfusion
may be required. Vitamin and mineral supplementation is often
necessary. High-fiber diet is required. Dietary consultation is
essential in severe cases.
- Any nonhealing ulcer or lesion appearing at the edge of a
nonhealing ulcer should be carefully evaluated for the possibility
of squamous cell carcinoma.
- Repeated surgical procedures may be required to release mitten
hands and keep digits functional. Regular endoscopic esophageal
dilation may be required.
- Regular immunizations should be given.
Epidermolysis Bullosa, Junctional
All forms of junctional epidermolysis bullosa (JEB) are
autosomally recessively inherited. Involvement may be mild
(generalized atrophic, localized, and inverse types) or severe
(Herlitz and gravis types). Systemic involvement may occur. Pyloric
atresia is uniquely associated with JEB.
- Children with JEB have hypoplastic dental enamel and resultant
premature caries of both deciduous and permanent teeth. A skilled
pediatric dentist must be a part of the health care team
- Bladder and ureteral involvement may rarely occur in JEB,
especially in the variant associated with pyloricatresia, leading
Epidermolysis Bullosa Simplex
Multiple subtypes of epidermolysis bullosa simplex (EB simplex)
are recognized. All forms are inherited in autosomal dominant
fashion. This disease may be generalized and severe (EB
herpetiformis of Dowling-Meara), generalized and mild to moderate
(Koebner type), or localized to the acral areas (Weber-Cockayne
type). Scarring in general does not occur except when lesions
become secondarily infected. Because life-threatening
complications, scarring, and mucosal involvement are minimal or
absent, supportive basic therapy as outlined above is usually
adequate. Heat and humidity lower the blistering threshold in EB
simplex, so these environmental conditions are best avoided. Well
ventilated soft-lined shoes with absorbent cotton socks are
recommended. Blistering tends to improve over time, allowing most
patients to manage their own conditions effectively with
appropriate education and support.
Berger G, Elias PM, Wintroub BU. Manual of Therapy for Skin
Diseases. New York: Churchill Livingstone, 1990 [Updated for
publication on Derm101.com, 2003-2009].