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Epidermolysis bullosa, junctional 2A, intermediate(JEB2A)

MedGen UID:
1807376
Concept ID:
C5676936
Disease or Syndrome
Synonyms: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2A, GENERALIZED INTERMEDIATE; EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2A, NON-HERLITZ TYPE
 
Gene (location): LAMA3 (18q11.2)
 
Monarch Initiative: MONDO:0030746
OMIM®: 619783

Definition

Intermediate junctional epidermolysis bullosa 2A (JEB2A) 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. Oral mucosa may be involved and nail bed blistering has been reported. 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.
Subepidermal blistering
MedGen UID:
347341
Concept ID:
C1856956
Finding
A type of blistering in which the lesions are located beneath the epidermis.
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.

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