Summary about Disease
Herlitz junctional epidermolysis bullosa (JEB-H) is a severe form of epidermolysis bullosa (EB), a group of genetic disorders that cause the skin and mucous membranes to be very fragile and blister easily. In JEB-H, blistering begins at birth and is widespread. The blisters are often large and painful, and they can lead to significant skin loss and scarring. It is caused by mutations in genes responsible for making proteins that help attach the epidermis (outer layer of skin) to the dermis (inner layer of skin).
Symptoms
Widespread blistering at birth
Large, painful blisters
Skin loss (erosions)
Scarring
Nail dystrophy (abnormal nail growth) or loss
Oral blisters
Hoarse cry
Failure to thrive (poor growth)
Anemia
Infections
Causes
Herlitz JEB is caused by mutations in genes that provide instructions for making proteins essential for the proper attachment of the epidermis to the dermis. The most common genes involved are LAMA3, *LAMB3*, and *LAMC2*. These genes code for proteins that make up laminin 332 (also called laminin 5), a crucial component of the anchoring filaments that secure the two skin layers together. Mutations in these genes disrupt the production or function of laminin 332, leading to skin fragility and blistering. It is inherited in an autosomal recessive pattern, meaning both parents must carry a copy of the mutated gene for a child to be affected.
Medicine Used
4. Medicine used There is no cure for Herlitz JEB, treatment focuses on managing symptoms, preventing complications, and improving quality of life. Treatments may include:
Wound care: Gentle cleansing, debridement (removing dead tissue), and specialized dressings to protect blisters and promote healing. Non-adherent dressings are often used.
Pain management: Pain relievers, including topical and oral medications, to manage pain from blisters and erosions.
Infection control: Antibiotics (topical or oral) to treat and prevent infections.
Nutritional support: High-calorie diet, nutritional supplements, or feeding tube to address failure to thrive and anemia.
Iron supplementation: Treatment of anemia.
Gene therapy: Experimental.
Stem cell therapy: Experimental.
Is Communicable
No, Herlitz JEB is not communicable. It is a genetic disorder caused by gene mutations and is not contagious.
Precautions
Handle the infant very gently to minimize friction and trauma to the skin.
Use soft clothing and bedding.
Avoid adhesive bandages.
Keep the environment cool to prevent sweating, which can worsen blistering.
Prevent infection by meticulous hygiene.
Ensure adequate nutrition and hydration.
Regular follow-up with a specialist EB team is essential.
How long does an outbreak last?
Herlitz JEB is not characterized by outbreaks. The blistering is chronic and persistent from birth. There might be periods where symptoms are more severe (due to infection, injury, etc.), but the underlying skin fragility is always present.
How is it diagnosed?
Clinical examination: Observing the characteristic widespread blistering at birth.
Skin biopsy with immunofluorescence mapping: This test examines a skin sample under a microscope and uses special stains to identify the presence or absence of specific proteins, such as laminin 332. A complete or significant reduction of laminin 332 is indicative of Herlitz JEB.
Genetic testing: Analyzing a blood sample to identify mutations in the LAMA3, *LAMB3*, or *LAMC2* genes. This can confirm the diagnosis and provide information about the specific type of mutation.
Prenatal testing: If there is a family history of JEB, prenatal testing (chorionic villus sampling or amniocentesis) can be done to determine if the fetus is affected.
Timeline of Symptoms
9. Timeline of symptoms
At birth: Widespread blistering is present.
Infancy: Continuous blistering, skin loss, failure to thrive, anemia, and potential complications from infections.
Childhood (if survival occurs): Ongoing wound care needs, potential for developmental delays, and continued risk of infection.
The disease is often fatal in infancy or early childhood.
Important Considerations
Multidisciplinary care: Management requires a team of specialists, including dermatologists, geneticists, pediatricians, wound care nurses, nutritionists, and pain management specialists.
High mortality rate: Herlitz JEB is a severe condition with a high mortality rate, often within the first year of life. Infections and failure to thrive are major causes of death.
Genetic counseling: Genetic counseling is recommended for families with a history of JEB to understand the inheritance pattern and risks of recurrence.
Quality of life: Supportive care and palliative care are crucial to improving the quality of life for affected individuals and their families.
Research: Ongoing research is exploring potential treatments, including gene therapy and stem cell therapy.