Epidermolysis Bullosa Simplex, Dowling-meara Type; Ebsdm

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 Dowling-Meara type of EBS is the most severe form, with generalized blistering that often occurs in clusters (herpetiform), is often associated with hyperkeratosis of the palms and soles, and shows clumping of keratin filaments in basal epidermal cells. The other 2 main types of EBS include the milder generalized Koebner type (OMIM ) and the milder and localized Weber-Cockayne type (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.

Clinical Features

Top most frequent phenotypes and symptoms related to Epidermolysis Bullosa Simplex, Dowling-meara Type; Ebsdm

  • Growth delay
  • Anemia
  • Hyperkeratosis
  • Scarring
  • Nail dystrophy
  • Carious teeth
  • Ichthyosis
  • Palmoplantar keratoderma
  • Sepsis
  • Nail dysplasia

And another 7 symptoms. If you need more information about this disease we can help you.

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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, Dowling-meara Type; Ebsdm Is also known as epidermolysis bullosa simplex, generalized severe, epidermolysis bullosa herpetiformis, dowling-meara 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, Dowling-meara Type; Ebsdm 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 Search Engine

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