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Epidermolysis bullosa, junctional 5A, intermediate(JEB5A)

MedGen UID:
1811851
Concept ID:
C5676956
Disease or Syndrome
Synonyms: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, GENERALIZED INTERMEDIATE; EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, NON-HERLITZ TYPE
 
Gene (location): ITGB4 (17q25.1)
 
Monarch Initiative: MONDO:0030768
OMIM®: 619816

Definition

Intermediate junctional epidermolysis bullosa 5A (JEB5A) 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. Nails may be dystrophic and dental enamel defects are present. 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
Urethral stenosis
MedGen UID:
12016
Concept ID:
C0041974
Finding
Abnormal narrowing of the urethra.
Alopecia of scalp
MedGen UID:
658454
Concept ID:
C0574769
Finding
Premature loss of permanent teeth
MedGen UID:
409904
Concept ID:
C1969738
Finding
Premature loss of the permanent teeth.
Nail dystrophy
MedGen UID:
66368
Concept ID:
C0221260
Disease or Syndrome
Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate.
Onychogryposis
MedGen UID:
82671
Concept ID:
C0263537
Disease or Syndrome
Nail that appears thick when viewed on end.
Absent pubic hair
MedGen UID:
349155
Concept ID:
C1859391
Finding
Absence of pubic hair.
Absent axillary hair
MedGen UID:
347869
Concept ID:
C1859392
Finding
Absence of axillary hair.
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.
Stratum basale cleavage
MedGen UID:
411295
Concept ID:
C2748755
Finding
Cleavage within the epidermal keratinocytes, which is the innermost layer of the epidermis and consists of proliferating cells that give rise to the outer layers of the epidermis.
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.
Onycholysis of distal fingernails
MedGen UID:
870242
Concept ID:
C4024680
Finding
Detachment of the distal fingernails from the nail bed.
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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