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Management of urinary tract in children with epidermolysis bullosa
C F Donatucci1, T G Berger, G E Deshon
1Department of Surgery, Letterman Army Medical Center, Presidio, San Francisco, California.
Insights
Epidermolysis bullosa with pyloric atresia is a rare condition often causing severe genitourinary issues. This case highlights a survivor managed with urinary diversion, emphasizing critical urologic associations in this disorder.
Area of Science:
- Genetics
- Dermatology
- Pediatric Surgery
Background:
- Epidermolysis bullosa (EB) comprises rare genetic skin disorders causing blistering upon minor trauma.
- Junctional EB can present with pyloric atresia, a rare congenital condition.
- This combination frequently involves severe genitourinary tract complications.
Observation:
- Infants with EB and pyloric atresia often exhibit significant urologic abnormalities.
- Most affected infants succumb early due to severe urinary tract involvement.
- A rare survivor with this combined disorder is presented.
Findings:
- The survivor required initial urinary diversion for management.
- Subsequent attempts to reverse the diversion were unsuccessful.
- The patient remains stable following rediversion, indicating successful long-term management.
Implications:
- This case underscores the critical urologic associations in epidermolysis bullosa/pyloric atresia.
- Management strategies, including urinary diversion, are vital for survival.
- Further research into EB/pyloric atresia and its urologic manifestations is warranted.
Abstract:
Epidermolysis bullosa is a group of rare genetic disorders characterized by noninflammatory blistering lesions of the skin occurring after minor mechanical trauma. In association with junctional epidermolysis bullosa, a syndrome of pyloric atresia has occasionally been noted in the literature. Several infants who had this combined disorder have been reported to have severe genitourinary tract involvement. Most of these patients have died at an early age because of severe urinary tract involvement. We describe a rare survivor who was initially treated with urinary diversion. Subsequent attempts at undiversion of this patient were unsuccessful. He is presently stable following rediversion. The entities of e. bullosa and e. bullosa/pyloric atresia are reviewed with emphasis on urologic associations.