Epidermolysis Bullosa Simplex, Localized

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

Epidermolysis bullosa simplex is a clinically and genetically heterogeneous skin disorder characterized by blistering of the skin following minor physical trauma as a result of cytolysis within the basal epidermal cells. Most forms show autosomal dominant inheritance. The localized form is characterized by localized blistering primarily on the hands and feet (Pfendner et al., 2005). The other 2 main types of EBS include the milder generalized Koebner type (OMIM ) and the more severe Dowling-Meara type (OMIM ). All 3 forms can be caused by mutation in the KRT5 or KRT14 genes (summary by Fine et al., 2008).

Genes related to Epidermolysis Bullosa Simplex, Localized

KRT14
KRT5
ITGB4

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Clinical Features

Phenotypes and symptoms related to Epidermolysis Bullosa Simplex, Localized

Hyperkeratosis
Abnormal blistering of the skin
Milia
Palmoplantar blistering

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, Localized Is also known as epidermolysis bullosa of hands and feet, epidermolysis bullosa simplex, weber-cockayne type, ebs, acral form.

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.

Epidermolysis Bullosa Simplex, Localized 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 Panel complete gene list DST, TGM5, FERMT1, CHST8, CD151, CDSN, COL17A1, COL7A1, KLHL24, DSP, EXPH5, ITGA3, ITGA6, ITGB4, JUP, KRT14, KRT5, LAMA3, LAMB3, LAMC2, PKP1, PLEC Specificity 14 % 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 34 %
KRT14. By Institute for Human Genetics University Clinic Freiburg (Germany). KRT14 Specificity 100 % Genes 34 %
KRT14. Sequencing of the exons 1, 4 and 6. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). KRT14 Specificity 100 % Genes 34 %
KRT14. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). KRT14 Specificity 100 % Genes 34 %
KRT14. Sequencing of the exons 1, 4 and 6. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). KRT14 Specificity 100 % Genes 34 %
KRT14. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). KRT14 Specificity 100 % Genes 34 %
Epidermolysis bullosa simplex (sequence analysis of KRT14 gene). By CGC Genetics (Portugal). KRT14 Specificity 100 % Genes 34 %

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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