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Gene: LAMA3

Green List (high evidence)

Disease-gene association well established.

Severe junctional epidermolysis bullosa 2B (JEB2B) is a skin blistering disorder characterized by extreme fragility of the skin and epithelia of various extracutaneous tissues. Skin blisters and erosions are present at birth. Patients usually die before 1 year of age.

Junctional epidermolysis bullosa 2C (JEB2C), also known as laryngoonychocutaneous syndrome (LOCS), is characterized by skin erosions, nail dystrophy, dental anomalies, and excessive vascular granulation tissue of the conjunctiva and larynx. Onset is characterized by a hoarse cry soon after birth. Beginning in infancy, chronic skin ulcers and conjunctival lesions appear. Patients may die in childhood secondary to acute or chronic respiratory obstruction. Long-term survivors have visual loss and often require tracheostomy.

Intermediate junctional epidermolysis bullosa 2A (JEB2A) is a blistering disease of skin and mucous membranes. Oral mucosa may be involved and nail bed blistering has been reported. Blistering is less severe than in severe JEB. Blistering does not affect the life span of affected individuals.

Created: 7 Nov 2024, 12:26 a.m. | Last Modified: 7 Nov 2024, 12:26 a.m.

Panel Version: 1.546

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epidermolysis bullosa, junctional 2B, severe (MIM#619784); 3. Epidermolysis bullosa, junctional 2C, laryngoonychocutaneous (MIM#245660); Epidermolysis bullosa, junctional 2A, intermediate (MIM#619783)

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