Disease
Junctional Epidermolysis Bullosa
Overview of Junctional Epidermolysis Bullosa
Junctional Epidermolysis Bullosa (JEB) is a rare, inherited skin disorder that causes the skin and mucous membranes to become extremely fragile.
Even minor friction or trauma can lead to painful blisters and wounds.
This condition is typically evident from birth and can vary in severity.
Some forms, such as Herlitz type JEB, are life-threatening in infancy, while others may allow longer-term survival with ongoing care.
JEB is caused by genetic mutations affecting proteins vital for skin integrity, leading to separation within the skin layers.
Types of Junctional Epidermolysis Bullosa
- Herlitz Junctional Epidermolysis Bullosa (JEB-H):
- The most severe form; blisters form soon after birth and affect the skin, airways, and internal linings. Often life-limiting.
- Non-Herlitz JEB:
- Milder forms with longer survival. Blisters may be limited to the skin and oral cavity.
- Laryngo-onycho-cutaneous Syndrome:
- A rare JEB subtype involving the eyes, nails, and airways along with skin symptoms.
Symptoms of Junctional Epidermolysis Bullosa
- Fragile skin that blisters easily, especially in friction-prone areas
- Widespread blistering in newborns
- Chronic wounds that may get infected
- Nail abnormalities or loss of nails
- Hair loss in some cases
- Breathing difficulties in severe types due to airway blistering
- Difficulty swallowing due to internal blistering
- Poor weight gain and growth delays
Causes of Junctional Epidermolysis Bullosa
- Genetic mutations affecting proteins (like laminin-332) that anchor the skin’s layers.
- Inherited in an autosomal recessive pattern (both parents must carry the gene).
- Defects in genes such as LAMA3, LAMB3 or LAMC2.
Complications in Junctional Epidermolysis Bullosa
- Life-threatening infections from open wounds
- Scarring and skin thickening
- Severe anemia due to chronic blood loss
- Nutritional deficiencies
- Airway obstruction in Herlitz JEB
- Risk of aggressive skin cancers in adolescence or adulthood
- Dental issues due to enamel defects
Risk Factors of Junctional Epidermolysis Bullosa
- Family history of epidermolysis bullosa
- Consanguineous (closely related) parentage
- Genetic carriers of the faulty genes
Preventions of Junctional Epidermolysis Bullosa
- Genetic counseling before pregnancy for at-risk families.
- Prenatal genetic testing (chorionic villus sampling or amniocentesis).
- Preimplantation genetic diagnosis (PGD) in IVF to avoid passing on the condition.
Diagnosis of Junctional Epidermolysis Bullosa
- Skin biopsy with immunofluorescence mapping to locate the skin separation level.
- Genetic testing to confirm specific gene mutations.
- Electron microscopy in specialized cases for precise diagnosis.
- Prenatal testing for high-risk pregnancies.
Treatments of Junctional Epidermolysis Bullosa
- Wound care: Sterile bandaging, topical antibiotics, and non-stick dressings
- Pain management: Oral pain relievers and sedatives when needed
- Nutritional support: Supplements, feeding tubes in severe cases
- Infection control: Antibiotics and regular hygiene
- Surgery: For airway narrowing, esophageal strictures, or hand deformities
- Gene therapy and protein replacement: Experimental but promising approaches
- Multidisciplinary care: Dermatologist, nutritionist, pediatrician, pain specialist
Prognosis of Junctional Epidermolysis Bullosa
- Herlitz JEB: Poor prognosis; many infants do not survive beyond the first year
- Non-Herlitz JEB: Can live into adolescence or adulthood with proper care
- Quality of life: Varies by subtype and severity, but supportive care can improve comfort and longevity
- Ongoing research offers hope through gene and stem cell therapies
Care at MyhealthMydoctor
- Expert guidance for families managing Junctional Epidermolysis Bullosa
- Access to top pediatric dermatologists and wound care specialists
- Coordinated genetic counseling and diagnostic services
- International patient assistance and long-term care planning
- Compassionate, holistic care from diagnosis to ongoing support
Some Important Questions Patients Should Ask Their Doctor During a Consultation
- Can my child live a normal life with JEB?
- What kind of dressings are safest for daily use?
- How often should wound care be done?
- Is there any cure or gene therapy available for JEB?
- Will my child be able to attend school?
- What should I do if my child gets an infection?
- Are there any foods we should avoid?
What Patients Expect from Doctors During Consultation?
- A clear explanation of the condition and prognosis
- Gentle handling and a trauma-free examination
- Guidance on daily skincare and pain relief
- Honest discussions about genetic risks and future pregnancies
- Regular monitoring and timely referrals to specialists
- Emotional support for parents and caregivers