Transient Bullous Dermolysis Of The Newborn

Description

Transient bullous dermolysis of the newborn is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life.

Clinical Features

Top most frequent phenotypes and symptoms related to Transient Bullous Dermolysis Of The Newborn

  • Abnormality of metabolism/homeostasis
  • Scarring
  • Nail dystrophy
  • Hypopigmentation of the skin
  • Abnormal blistering of the skin
  • Hypopigmented skin patches
  • Milia
  • Atrophic scars
  • Skin vesicle
  • Fragile skin

And another 1 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

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

Transient Bullous Dermolysis Of The Newborn Is also known as deb, bullous dermolysis of the newborn, deb-bdn, epidermolysis bullosa dystrophica, neonatal form, dystrophic epidermolysis bullosa, neonatal.

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.

Transient Bullous Dermolysis Of The Newborn 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
5 %
Genes
100 %
COL7A1 Gene Sequencing.

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

COL7A1
Specificity
100 %
Genes
100 %
COL7A1 Deletion/duplication analysis.

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

COL7A1
Specificity
100 %
Genes
100 %
EB (Epidermolysis Bullosa) Deletion/Duplication 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, DSP, EXPH5, ITGA3, ITGA6, ITGB4, JUP, KRT5, LAMA3, LAMB3, LAMC2, PKP1, PLEC
Specificity
5 %
Genes
100 %
COL7A1.

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

COL7A1
Specificity
100 %
Genes
100 %
COL7A1. Complete sequencing.

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

COL7A1
Specificity
100 %
Genes
100 %
COL7A1. Sequencing of the exons 73, 74 and 75.

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

COL7A1
Specificity
100 %
Genes
100 %
CHOP Comprehensive Hereditary Cancer Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).

RMRP, RUNX1, BLM, SDHA, SDHB, SDHC, SDHD, BMPR1A, SH2D1A, SLC25A13, BRCA1, BRCA2, SMARCA4, SMARCB1, SMARCE1, BUB1B, EPCAM, XPA, IKZF1, CBL , (...)

View the complete list with 85 more genes
Specificity
1 %
Genes
100 %

You can get up to 37 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

MESH OMIM ORPHANET Genetic Syndrome Finder

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