Skip to
  1. Homepage
  2. Rare diseases
  3. Search
Simple search

Simple search

*
(*) mandatory field





 

Other search option(s)

Epidermolysis bullosa simplex with pyloric atresia

Orpha number ORPHA158684
Synonym(s) EBS-PA
Prevalence Unknown
Inheritance Autosomal recessive
Age of onset Infancy
Neonatal
ICD-10
  • Q81.0
ICD-O -
OMIM
UMLS -
MeSH -
MedDRA -

Summary

Epidermolysis bullosa simplex with pyloric atresia (EBS-PA) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia.

Prevalence is unknown, but at least 12 families have been reported to date.

Onset is at birth and babies are usually born prematurely with a low weight and poor general condition. Pyloric atresia can be suspected antenatally based on polyhydramnios and is confirmed at birth by abdominal X-ray examination. Additional extracutaneous findings include failure to thrive, anemia, sepsis, intraoral blistering, malformed pinnae and nasal alae, and joint contractures.

Most EBS-PA cases are due to mutations in the PLEC gene (8q24) encoding the plectin 1 protein. Recently, it has also been shown that PLEC mutations can lead to both muscular dystrophy and pyloric atresia phenotypes in an individual EBS patient. In addition, in rare cases mutations in the ITGB4 gene encoding the beta4 subunit of alpha6 beta4 integrin can result in tissue separation within basal keratinocytes, thus corresponding to EBS-PA cases (most cases of ITGB4 and ITGA6 gene mutations are responsible for junctional epidermolysis bullosa with pyloric atresia; see this term).

Transmission is autosomal recessive.

In most cases, EBS-PA has a fatal outcome in early infancy despite surgical correction of pyloric atresia.

Expert reviewer(s)

  • Dr Giovanna ZAMBRUNO

(*) Required fields.

Attention: Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.


Captcha image

Detailed information

Emergency guidelines
  • FR (2012,pdf)
Clinical practice guidelines
  • EN (2014)
Article for general public
  • FR (2012,pdf)
Disability factsheet
  • FR (2013,pdf)
Get Acrobat Reader
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.