What are the other Names for this Condition? (Also known as/Synonyms)

• JEB, Non-Herlitz type
• Non-Herlitz JEB
• Non-Herlitz Junctional Epidermolysis Bullosa

What is Junctional Epidermolysis Bullosa, Non-Herlitz type? (Definition/Background Information)

• Epidermolysis bullosa (EB) constitute a group of genetic disorders in which there is blister formation in the skin and/or mucosal membranes after minimal trauma. A minor injury, such as friction or rubbing, can separate the skin layers easily, resulting in painful skin tearing or blistering
• Junctional epidermolysis bullosa (JEB) is the most severe form of EB. In JEB, the separation takes place at the junction of the epidermis and skin. The condition is rare and typically inherited in an autosomal dominant manner. There are two subtypes of JEB, namely:
  • Junctional Epidermolysis Bullosa, Herlitz type
  • Junctional Epidermolysis Bullosa, Non-Herlitz type
• Junctional Epidermolysis Bullosa, Non-Herlitz type is a moderate form of JEB. It is inherited in an autosomal recessive manner. The condition may present severe symptoms and complications, but children who survive infancy are known to show improvement with age

Who gets Junctional Epidermolysis Bullosa, Non-Herlitz type? (Age and Sex Distribution)

• Junctional Epidermolysis Bullosa, Non-Herlitz type is a rare congenital disorder. The presentation of symptoms are seen following the birth of the child (from early infancy itself)
• Both males and females are known to be equally affected
• Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Junctional Epidermolysis Bullosa, Non-Herlitz type? (Predisposing Factors)

• A positive family history may be an important risk factor, since Junctional Epidermolysis Bullosa, Non-Herlitz type can be inherited
• Currently, no risk factors have been clearly identified for this skin disorder

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Junctional Epidermolysis Bullosa, Non-Herlitz type? (Etiology)

• Junctional Epidermolysis Bullosa, Non-Herlitz type is a genetic disorder that may be caused by mutations on any of the following genes:
  • COL17A1 gene
  • ITGB4 gene
  • LAMA3 gene
  • LAMB3 gene
  • LAMC2 gene
• It is typically inherited in an autosomal recessive manner

Autosomal recessive: Autosomal recessive conditions are traits or disorders that occur when two copies of an abnormal gene have been inherited on a non-sex chromosome. If both parents have an autosomal recessive condition, there is a 100% likelihood of passing on the mutated genes to their children. If, however, only one mutant copy of the gene is inherited, the individual will be a carrier of the condition, but will not be present with any symptoms. Children born to two carriers, have a 25% chance of being homozygous dominant (unaffected), a 50% chance of being heterozygous (carrier), and a 25% chance of being homozygous recessive (affected).

What are the Signs and Symptoms of Junctional Epidermolysis Bullosa, Non-Herlitz type?

The signs and symptoms of Junctional Epidermolysis Bullosa, Non-Herlitz type may include:

• At birth, the baby may present a few blisters that may soon become widespread to involve the entire body
• The blistering may be mild to moderate or severe
• Presence of fragile skin
• Typically, the skin on the limbs are affected; involvement of the nails, teeth, and scalp may be moderate to severe
• The mucus membranes (oral cavity, GI tract) are also affected
• Bleeding and granulation of skin, in some cases
• Hoarse crying and constant irritability

How is Junctional Epidermolysis Bullosa, Non-Herlitz type Diagnosed?

Junctional Epidermolysis Bullosa, Non-Herlitz type is diagnosed on the basis of the following information:

• Thorough evaluation of the child’s family medical history and a complete physical examination including of the skin, mouth, face, and other body regions
• The appearance of the skin, together with the family history may help in making a preliminary diagnosis of epidermolysis bullosa (EB)
• Skin biopsy: In this procedure, the physician removes a sample of the skin tissue and sends it to the laboratory for a histopathological examination. The pathologist examines the biopsy under a microscope and arrives at a definitive diagnosis after a thorough evaluation of the clinical and microscopic findings, as well as by correlating the results of special studies on tissues (if any performed)
• Specialized tests, which will help in diagnosing the specific type of EB, include electron microscopy, immune-fluorescent mapping, and other studies
• Genetic testing: Blood sample is analyzed for mutations associated with JEB

Other tests that may be required depending on the healthcare provider’s assessment include:

• Wound culture for bacterial infection
• Upper gastrointestinal endoscopy
• Blood tests for nutritional deficiencies

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Junctional Epidermolysis Bullosa, Non-Herlitz type?

The complications of Junctional Epidermolysis Bullosa, Non-Herlitz type may include:

• Severe emotional stress for the parents and caregivers
• Extensive skin involvement with severe scarring
• Dehydration due to loss of fluids
• Oral cavity lesions cause reduced intake of food (due to eating/swallowing difficulties) leading to severe malnutrition
• High risk for secondary bacterial and fungal infections
• Involvement of internal organs resulting in life-threatening complications

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Junctional Epidermolysis Bullosa, Non-Herlitz type Treated?

Junctional Epidermolysis Bullosa, Non-Herlitz type is a severe cutaneous condition with no known cure. The treatment is aimed at providing symptomatic-relief with the prevention of further complications. A multidisciplinary team approach is important when caring for babies and children with Non-Herlitz JEB. The treatments may involve:

• Skin and wound care
• Avoidance of minor trauma
• Treating or preventing superimposed infections
• Hospitalization is usually required
• Feeding tube may be necessary to provide nutrition to the child

How can Junctional Epidermolysis Bullosa, Non-Herlitz type be Prevented?

Currently, Junctional Epidermolysis Bullosa, Non-Herlitz type may not be preventable since it is a genetic disorder.

• Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
• If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders

Regular medical screening at periodic intervals with tests and physical examinations are recommended.

What is the Prognosis of Junctional Epidermolysis Bullosa, Non-Herlitz type? (Outcomes/Resolutions)

• The prognosis of Junctional Epidermolysis Bullosa, Non-Herlitz type is dependent upon the severity of the signs and symptoms and associated complications, if any
• Children, who survive early infancy that present severe symptoms with intensive treatments, are known to show improvements as they age. In such cases, the outcomes can be better

Additional and Relevant Useful Information for Junctional Epidermolysis Bullosa, Non-Herlitz type:

The following DoveMed website link is a useful resource for additional information:

https://www.dovemed.com/healthy-living/skin-disorders/