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Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive(EBS1D)

MedGen UID:
811576
•Concept ID:
C3715082
•
Disease or Syndrome
Synonym: Epidermolysis bullosa simplex, 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): KRT14 (17q21.2)
 
Monarch Initiative: MONDO:0010976
OMIM®: 601001
Orphanet: ORPHA89838

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 generalized intermediate or severe epidermolysis bullosa simplex-1D (EBS1D) is a skin disorder characterized by blistering elicited by minor trauma that usually heals without scarring. Severity is variable; in some patients hands and feet are primarily affected, and in others blistering anywhere on the body may occur. In some patients the condition improves with age. Histology shows cleavage at the level of basal keratinocytes (Hovnanian et al., 1993; Jonkman et al., 1996). For a discussion of genetic heterogeneity of the subtypes of EBS, see EBS1A (131760). Reviews Fine et al. (2008) reviewed the classification of inherited epidermolysis bullosa.  http://www.omim.org/entry/601001

Clinical features

From HPO
Onychogryposis
MedGen UID:
82671
•Concept ID:
C0263537
•
Disease or Syndrome
Nail that appears thick when viewed on end.
See: Feature record | Search on this feature
Ridged nail
MedGen UID:
140853
•Concept ID:
C0423820
•
Finding
Longitudinal, linear prominences in the nail plate.
See: Feature record | Search on this feature
Oral mucosal blisters
MedGen UID:
208888
•Concept ID:
C0853945
•
Sign or Symptom
Blisters arising in the mouth.
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
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.
See: Feature record | Search on this feature
Abnormal dermoepidermal hemidesmosome morphology
MedGen UID:
1686623
•Concept ID:
C5139350
•
Finding
An abnormal structure or appearance of hemidesmosomes, multiprotein complexes that facilitate the stable adhesion of basal epithelial cells to the underlying basement membrane.
See: Feature record | Search on this feature

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVEpidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive

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