Syndromic association of pyloric atresia and epidermolysis bullosa (Carmi syndrome)--a case report.

Abstract

Epidermolysis bullosa (EB) is an inherited, autosomal recessive, bullous disease, characterized by blisters followed with skin and mucosal erosions. We present a case of a male infant with pyloric atresia associated with junctional EB (Carmi syndrome). The patient underwent urgent laparotomy after prompt stabilization. Postoperative course was uneventful. Nine months later the patient died in the paediatric intensive care unit from respiratory distress syndrome. Prognosis is usually very poor. Death usually occurs during the first year of life, as a result of septic complications.

• Authors: Z Marjanovic, A Slavkovic, I Djordjevic
• Journal: The West Indian medical journal (West Indian Med J) Vol. 62 Issue 2 Pg. 149-51 (Feb 2013) ISSN: 0043-3144 [Print] Jamaica
• PMID: 24564066 (Publication Type: Case Reports, Journal Article)

Topics

• Ectodermal Dysplasia (diagnosis, surgery)
• Fatal Outcome
• Humans
• Infant, Newborn
• Male
• Pylorus (diagnostic imaging)
• Radiography
• Skin (pathology)
• Ultrasonography