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Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive(EBS4)

MedGen UID:
767281
•Concept ID:
C3554367
•
Disease or Syndrome
Synonym: Epidermolysis bullosa, nonspecific, autosomal recessive
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Gene (location): EXPH5 (11q22.3)
 
Monarch Initiative: MONDO:0014014
OMIM®: 615028
Orphanet: ORPHA412189

Disease characteristics

Excerpted from the GeneReview: Epidermolysis Bullosa Simplex
Epidermolysis bullosa simplex (EBS) is characterized by fragility of the skin (and mucosal epithelia in some instances) that results in non-scarring blisters and erosions caused by minor mechanical trauma. EBS is distinguished from other types of epidermolysis bullosa (EB) or non-EB skin fragility syndromes by the location of the blistering in relation to the dermal-epidermal junction. In EBS, blistering occurs within basal keratinocytes. The severity of blistering ranges from limited to hands and feet to widespread involvement. Additional features can include hyperkeratosis of the palms and soles (keratoderma), nail dystrophy, milia, and hyper- and/or hypopigmentation. Rare EBS subtypes have been associated with additional clinical features including pyloric atresia, muscular dystrophy, cardiomyopathy, and/or nephropathy. [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  GeneReview Scope  |  Diagnosis  |  Clinical Characteristics  |  Genetically Related (Allelic) Disorders  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  Chapter Notes  |  References
Authors:
Jodi Y So  |  Joyce Teng   view full author information

Additional description

From OMIM
Autosomal recessive localized or generalized intermediate epidermolysis bullosa simplex-4 (EBS4) is a rare disorder characterized by mild skin fragility with onset at birth or in early childhood, associated with acral blistering with hemorrhagic crusts. Skin fragility improves with age in most patients, although mottled pigmentation may later develop on the trunk and proximal limbs. Histology shows intrabasal cleavage (Malchin et al., 2016; Turcan et al., 2016; Diociaiuti et al., 2020). For a discussion of genetic heterogeneity of the subtypes of EBS, see EBS1A (131760).  http://www.omim.org/entry/615028

Clinical features

From HPO
Epidermal acanthosis
MedGen UID:
65136
•Concept ID:
C0221270
•
Finding
Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin).
See: Feature record | Search on this feature
Fragile skin
MedGen UID:
66826
•Concept ID:
C0241181
•
Finding
Skin that splits easily with minimal injury.
See: Feature record | Search on this feature
Hyperkeratosis
MedGen UID:
209030
•Concept ID:
C0870082
•
Disease or Syndrome
Hyperkeratosis is thickening of the epidermis involving the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVEpidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive

Professional guidelines

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