Junctional Epidermolysis Bullosa (JEB) with Pyloric Atresia.
- Author:
Sang Hyeop LEE
1
;
Yong Hoon CHO
;
Hae Young KIM
Author Information
1. Department of Surgery, College of Medicine, Pusan National University, Busan, Korea. dr-cyh@hanmail.net
- Publication Type:Case Report
- Keywords:
Junctional epidermolysis bullosa;
Pyloric atresia
- MeSH:
Congenital, Hereditary, and Neonatal Diseases and Abnormalities;
Epidermolysis Bullosa;
Epidermolysis Bullosa, Junctional*;
Failure to Thrive;
Gastric Outlet Obstruction;
Humans;
Male;
Prognosis;
Sepsis;
Skin
- From:Journal of the Korean Surgical Society
2004;67(3):244-248
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Epidermolysis bullosa (EB) has three distinctive types, of which junctional EB has been known to be associated with pyloric atresia (PA) usaually. PA is a congenital disease of gastric outlet obstruction, known to occur at a rate of 1 per million live-births. It may occur independently or in combination with other congenital disorders such as EB. Dozens of cases of this combined disease have been reported since 1972 and autosomal recessive patterns have recently been revealed. This, junctional epidermolysis bullosa with pyloric atresia, has poor prognosis. Bullous, erupted cutaneous manifestations have recurrent, persistent characteristics and causes extracutaneous manifestations such as electrolyte imbalance, protein-loosing enteropathy, failure to thrive, and sepsis. In some cases, this syndrome may have obstructive uropathy and give it bad results also. For these reasons, physicians should be careful to avoid minor trauma on the skin and need to make meticulous decisions in operative correction about obstrutive gastrointestinal lesion or uropathy. We report a case of 3-day-old male baby, junctional epidermolysis bullosa with pyloric atresia.
