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Epidermolysis bullosa, junctional 3A, intermediate(JEB3A)

MedGen UID:
1812940
Concept ID:
C5676938
Disease or Syndrome
Synonyms: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3A, GENERALIZED INTERMEDIATE; EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3A, NON-HERLITZ TYPE
 
Gene (location): LAMC2 (1q25.3)
 
Monarch Initiative: MONDO:0030748
OMIM®: 619785

Definition

Intermediate junctional epidermolysis bullosa 3A (JEB3A) is an autosomal recessive blistering disease of skin and mucous membranes. Blistering is less severe than in severe JEB (see 226700). The plane of skin cleavage is through the lamina lucida of the cutaneous basement membrane zone. Nail and dental abnormalities occur. Blistering does not affect the life span of affected individuals (summary by Has et al., 2020). For a discussion of genetic heterogeneity of the subtypes of JEB, see JEB1A (226650). Reviews Has et al. (2020) reviewed the clinical and genetic aspects, genotype-phenotype correlations, disease-modifying factors, and natural history of epidermolysis bullosa. [from OMIM]

Clinical features

From HPO
Oral mucosal blisters
MedGen UID:
208888
Concept ID:
C0853945
Sign or Symptom
Blisters arising in the mouth.
Abnormal blistering of the skin
MedGen UID:
412159
Concept ID:
C2132198
Finding
The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls.
Lamina lucida cleavage
MedGen UID:
867365
Concept ID:
C4021730
Finding
The formation of bullae (blisters) with cleavage in the lamina lucida layer of the skin.
Hypoplastic dermoepidermal hemidesmosomes
MedGen UID:
1697259
Concept ID:
C5209220
Finding
Underdeveloped hemidesmosomes at the dermoepidermal junction. Hemidesmosomes are the specialized junctional complexes, that contribute to the attachment of epithelial cells to the underlying basement membrane in stratified and other complex epithelia, such as the skin.

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