Epidermolysis Bullosa Simplex, Generalized

Description

Epidermolysis bullosa simplex (EBS) is a clinically and genetically heterogeneous skin disorder characterized by recurrent blistering of the skin following minor physical trauma as a result of cytolysis within basal epidermal cells. Most forms show autosomal dominant inheritance. The 3 main types include the generalized Koebner form, the more severe generalized Dowling-Meara form (OMIM ), and the localized, mild Weber-Cockayne form (OMIM ) (Fine et al., 2008). All 3 forms can be caused by mutation in the KRT5 or the KRT14 gene. See {601001} for a rare autosomal recessive form caused by mutation in the KRT14 gene.Davison (1965) referred to generalized distribution of bullous vesicles as epidermolysis simplex bullosa. The condition in which bullae were limited to the hands and feet was referred to as the Cockayne type of epidermolysis bullosa (OMIM ).On the basis of an extensive study in Norway and review of the literature, Gedde-Dahl (1971) arrived at a classification of epidermolysis bullosa. EB simplex in this classification encompassed disorders characterized by bulla formation within the epidermis, basal cell vacuolization, and dissolution of tonofibrils on electron microscopy. The generalized Koebner form and the localized Weber-Cockayne type were believed to be allelic. Gedde-Dahl (1981) recognized at least 16 varieties of epidermolysis bullosa and suggested that dominant EB simplex can be clinically and genetically divided into at least 4 types: the generalized Koebner type, the localized Weber-Cockayne type, the mild Ogna type with fragile skin (OMIM ), and a form with mottled pigmentation (OMIM ).Fine et al. (1991) provided a revised classification of the subtypes of inherited epidermolysis bullosa based on clinical and laboratory criteria.

Clinical Features

Phenotypes and symptoms related to Epidermolysis Bullosa Simplex, Generalized

  • Fever
  • Hyperkeratosis
  • Nail dystrophy
  • Nail dysplasia
  • Abnormal blistering of the skin
  • Palmoplantar hyperkeratosis
  • Milia
  • Skin vesicle
  • Fragile skin
  • Mottled pigmentation

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Epidermolysis Bullosa Simplex, Generalized Is also known as ebs, generalized, epidermolysis bullosa simplex, koebner type.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Epidermolysis Bullosa Simplex, Generalized Recommended genes panels

Panel Name, Specifity and genes Tested/covered
EBSeq Epidermolysis Bullosa Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

DST, TGM5, FERMT1, CHST8, CD151, CDSN, COL17A1, COL7A1, KLHL24, DSP, EXPH5, ITGA3, ITGA6, ITGB4, JUP, KRT14, KRT5, LAMA3, LAMB3, LAMC2 , (...)

View the complete list with 2 more genes
Specificity
10 %
Genes
100 %
KRT14 Gene Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

KRT14
Specificity
100 %
Genes
50 %
KRT14.

By Institute for Human Genetics University Clinic Freiburg (Germany).

KRT14
Specificity
100 %
Genes
50 %
KRT14. Sequencing of the exons 1, 4 and 6.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

KRT14
Specificity
100 %
Genes
50 %
KRT14. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

KRT14
Specificity
100 %
Genes
50 %
KRT14. Sequencing of the exons 1, 4 and 6.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

KRT14
Specificity
100 %
Genes
50 %
KRT14. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

KRT14
Specificity
100 %
Genes
50 %
Epidermolysis bullosa simplex (sequence analysis of KRT14 gene).

By CGC Genetics (Portugal).

KRT14
Specificity
100 %
Genes
50 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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