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.
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.