ALTERNATE NAMES

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

DESCRIPTION

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.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: Individuals with this condition are diagnosed by:

• •

  Genetic testing;

• •

  Skin biopsy;

• •

  Blood testing for anemia;

• •

  Cultures to check for bacterial infection; and

• •

  Upper endoscopy or upper GI series.

Physical findings: Individuals with the severe form of JEB may have:

• •

  Skin blistering;

• •

  Contracture (fibrous scar tissue that prevents natural movement of damaged areas) deformities at the fingers, elbows, or knees;

• •

  Swallowing problems if the mouth and esophagus are affected;

• •

  Fused fingers and toes; and

• •

  Limited mobility from scarring.

Other findings may include:

• •

  Esophageal narrowing;

• •

  Eye problems;

• •

  Periodontal disease; and

• •

  Failure to thrive.

ICD-9: 757.39

TREATMENT

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.

PROGRESSION

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:

• •

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

• •

  Biopsy reports.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

110.08

Equals

108.09