JUNCTIONAL EPIDERMOLYSIS BULLOSA LETHAL TYPE

ALTERNATE NAMES

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

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 CODING

Physical findings: Clinical examination including a description of findings.

Lab testing: Skin biopsy, blood tests for anemia, wound cultures for bacterial infection, upper endoscopy or an upper GI series for swallowing or feeding difficulties, range of motion of limbs and genetic testing if available in the records.

ICD-9: 757.39 Other specified anomalies of skin

ONSET AND 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.

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.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation: Clinical examination with a description and frequency of flare-ups, location and appearance of lesions, and skin biopsy.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets Listing

108.03

Medical Equals