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 (fibrous scar tissue that prevents natural movement of damaged areas)
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:
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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* Adjudicators may, at their discretion, use the Medical Evidence of Record or the
listings suggested to evaluate the claim. However, the decision to allow or deny the
claim rests with the adjudicator.
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