JEB; JEB-Herlitz; Lethal Junctional Epidermolysis Bullosa; Junctional Epidermolysis Bullosa Gravis; Dystrophic Epidermolysis Bullosa; Hemidesmosomal Epidermolysis Bullosa; Herlitz disease; Epidermolysis Bullosa, Junctional; Epidermolysis Bullosa Atrophicans; Herlitz Junctional Epidermyolysis Bullosa

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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  Genetic testing;

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  Skin biopsy;

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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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  Skin blistering;

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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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  Anemia;

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  Esophageal narrowing eye problems;

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  Infection in the Blood or tissues muscular dystrophy;

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  Periodontal disease;

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  Failure to thrive; and

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  Squamous cell skin cancer.

ICD-9: 757.39

There is no cure for this condition. Treatment is supportive which includes daily wound care, bandaging and pain management as needed. Tissue engineered skin grafts (artificial skin) may be beneficial.

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.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

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  Clinical history and examination that describes the diagnostic features of the impairment; and

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  Biopsy reports

Suggested Listings for Evaluation:

REMARKS