in representative bullae, which distinguishes the
general type of epidermolysis bullosa. Molecular
examination, including DNA mutation analysis
identifies the precise type. CHORIONIC VILLI SAMPLING
(CVS) during PREGNANCY(removing a small tissue
sample from the edge of the PLACENTA) can identify
whether the FETUShas the disorder.
Treatment Options and Outlook
Treatment attempts to minimize or prevent bullae
formation, heal bullae that do form, and provide
necessary supportive care such as PARENTERAL
NUTRITION. Healing mechanisms are often impaired,
and ruptured bullae and related tissue damage can
leave tissues exposed. Burn therapies such as arti-
ficial skin can provide a temporary covering to
improve healing. Support groups offer forums for
sharing experiences and coping methods.
People who have mild forms of disease may
experience few bullae or complications and be
able to enjoy fully active lives. More severe forms
are debilitating or fatal. It is important though dif-
ficult to prevent ruptured bullae from becoming
infected. Nutritional deficiencies are common
when bullae form along the gastrointestinal
mucosa, which may interfere with swallowing
(bullae that form in the ESOPHAGUS) or absorption
(bullae that form in the SMALL INTESTINE). The risk
for squamous cell SKIN CANCERis very high among
people who have junctional epidermolysis bullosa,
with first appearance often in late ADOLESCENCE.
Dermatologists advise frequent skin self-examina-
tions and regular skin examinations by a derma-
tologist who has clinical experience with
epidermolysis bullosa.
Risk Factors and Preventive Measures
Epidermolysis bullosa is a genetic disorder, so the
primary risk factor is a family history of the condi-
tion. In autosomal recessive INHERITANCE PATTERNS,
it is possible for each parent to carry the gene
defect yet show no indications of disease or to
have a mild form and not realize it. GENETIC TEST-
INGcan help families detect the presence of the
gene MUTATION, and GENETIC COUNSELINGcan help
couples in making family-planning decisions.
Researchers continue to explore GENE THERAPY
solutions.
See also BULLA;FAMILY MEDICAL PEDIGREE; GENETIC
DISORDERS; HYPERHIDROSIS; MUSCULAR DYSTROPHY;
SCAR; SKIN SELF-EXAMINATION;TEETH.erysipelas A streptococcal INFECTIONof the der-
mis, the middle layer of the SKIN. Infection com-
monly follows STREP THROAT, with the BACTERIA
likely carried on the hands to the skin where a
scratch or other breach allows the bacteria to colo-
nize into an infection. The infection presents char-
acteristic symptoms that allow prompt clinical
diagnosis. These symptoms include- redness (erythema), swelling (edema), and PAIN
at the site of the infection - clearly defined and usually raised border
between the infection and healthy skin - swelling of adjacent LYMPH NODES
- FEVER, generalized discomfort, and aching in the
muscles and joints
Treatment is a course of ANTIBIOTIC MEDICATIONS,
preferably penicillin unless the person is allergic,
and medications to relieve pain and fever. Warm
compresses help bring blood to the area, improv-
ing the effectiveness of the body’s IMMUNE RESPONSE
to attack the infection and increasing circulation
of the antibiotic.It is important for people to take ANTIBI-
OTIC MEDICATIONS prescribed to treat
erysipelas as the doctor directs, and to
use them until all the antibiotic is gone,
to completely eradicate the streptococ-
cal BACTERIA.Prompt medical attention is essential as
erysipelas can rapidly invade deeper tissues, caus-
ing CELLULITISand perhaps SEPTICEMIA(bodywide
infection). Untreated or undertreated streptococ-
cal infections also present the risk for INFLAMMA-
TIONof the HEARTvalves (RHEUMATIC HEART DISEASE).
With treatment, symptoms improve within 72
hours and the erysipelas resolves completely in 10
to 14 days. People who have DIABETES, impaired
peripheral circulation, and IMMUNE DISORDERSare
at increased risk for erysipelas. Preventive meas-erysipelas 155