DESCRIPTION
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Junctional Epidermolysis Bullosa (JEB) Lethal type, or Herlitz form, occurs at birth and is a rare, genetic condition that is characterized
by generalized skin blistering resulting from minor friction, scratches, or trauma.
JEB is caused by a severe mutation in the keratin gene: laminin-5. Infants with this
condition show characteristic skin blisters around the mouth, eyes, nostrils, fingers,
hands, elbows, feet, legs, and diaper area. The skin blisters are often accompanied
by significant enlargement and bumpy tissue. Multisystemic involvement of the corneal,
conjunctival, tracheobronchial, oral, pharyngeal, esophageal, rectal and genitourinary
systems is present. When the lungs are involved, children exhibit symptoms of a hoarse
cry, cough and other respiratory difficulties.
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DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND
ICD-9-CM/ICD-10-CM
CODING
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Diagnostic testing: Individuals with this condition are diagnosed by:
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Blood testing for anemia;
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Cultures to check for bacterial infection; and
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Upper endoscopy or upper GI series.
Physical findings: Individuals with the severe form of JEB may have:
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Contracture deformities at the fingers, elbows or knees;
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Swallowing problems if the mouth and esophagus are affected;
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Fused fingers and toes; and
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Limited mobility from scarring.
Other findings may include:
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Esophageal narrowing eye problems;
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Infection in the Blood or tissues muscular dystrophy;
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Squamous cell skin cancer.
ICD-9: 757.39
ICD-10:
Q81
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PROGRESSION
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Infants with this condition are at increased risk for death from sepsis or other complications
secondary to the skin damage, and usually, they do not survive past infancy. Other
complications of JEB can include fusion of the fingers and toes, abnormalities of
the fingernails and toenails, joint deformities (contractures) that restrict movement,
and hair loss. The death rate is as high as 87% in the first year of life.
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