GTR Home > Conditions/Phenotypes > Epidermolysis bullosa with pyloric atresia

Disease characteristics

Excerpted from the GeneReview: Epidermolysis Bullosa with Pyloric Atresia
Epidermolysis bullosa with pyloric atresia (EB-PA) is characterized by fragility of the skin and mucous membranes, manifested by blistering with little or no trauma; congenital pyloric atresia; and ureteral and renal anomalies (dysplastic/multicystic kidney, hydronephrosis/hydroureter, ureterocele, duplicated renal collecting system, absent bladder). The course of EB-PA is usually severe and often lethal in the neonatal period. Most affected children succumb as neonates; those who survive may have severe blistering with formation of granulation tissue on the skin around the mouth, nose, fingers, and toes, and internally around the trachea. However, some affected individuals have little or no blistering later in life. Additional features shared by EB-PA and the other major forms of EB include congenital localized absence of skin (aplasia cutis congenita) affecting the extremities and/or head, milia, nail dystrophy, scarring alopecia, hypotrichosis, contractures, and dilated cardiomyopathy.

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Associated genes

Clinical features

  • Pyloric stenosis
  • Fragile skin
  • Anonychia
  • Arthrogryposis multiplex congenita
  • Axillary pterygia
  • Atrophic scars
  • Nail dysplasia
  • Duodenal stenosis
  • Ureteral stenosis
  • Abnormality of the genitourinary system
  • Abnormality of the eyelid
  • Ectropion
  • Milia
  • Aplasia cutis congenita
  • Pterygium
  • Polyhydramnios
  • Esophageal atresia
  • Intractable diarrhea
  • Junctional split
  • Congenital pyloric atresia
  • Elevated maternal serum alpha-fetoprotein
  • Hypoplasia of dental enamel
  • Abnormal blistering of the skin
  • Nail dystrophy
  • Skin ulcer
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