Your browser doesn't support javascript.
loading
Syndromic association of pyloric atresia and Epidermolysis bullosa (Carmi syndrome) - a case report / Asociación sindrómica de la atresia pilórica y la Epidermolisis bullosa (síndrome de Carmi) - un reporte de caso
Marjanovic, Z; Slavkovic, A; Djordjevic, I.
Affiliation
  • Marjanovic, Z; Clinical Center. Clinic of Paediatric Surgery. Nis. RS
  • Slavkovic, A; Clinical Center. Clinic of Paediatric Surgery. Nis. RS
  • Djordjevic, I; Clinical Center. Clinic of Paediatric Surgery. Nis. RS
West Indian med. j ; 62(2): 149-151, Feb. 2013. ilus
Article in English | LILACS | ID: biblio-1045608
Responsible library: BR1.1
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.
RESUMEN
La epidermólisis bullosa (EB) es una enfermedad hereditaria, autosómica recesiva, y bullar, caracterizada por ampollas acompañadas de erosiones de las mucosas y la piel. Presentamos el caso de un niño con atresia pilórica asociada con EB juntural (síndrome de Carmi). El paciente fue sometido a laparotomía urgente después de una rápida estabilización. Curso postoperatorio transcurrió sin incidentes. Nueve meses más tarde, el paciente murió en la unidad de cuidados intensivos pediátricos de síndrome de dificultad respiratoria (SDR). El pronóstico es generalmente muy pobre. La muerte ocurre generalmente durante el primer año de vida, como consecuencia de las complicaciones sépticas.
Subject(s)

Full text: Available Collection: International databases Database: LILACS Main subject: Pylorus / Skin / Ectodermal Dysplasia Type of study: Diagnostic study / Prognostic study / Risk factors Limits: Humans / Male / Infant, Newborn Language: English Journal: West Indian med. j Journal subject: Medicine Year: 2013 Document type: Article Institution/Affiliation country: Clinical Center/RS
Full text: Available Collection: International databases Database: LILACS Main subject: Pylorus / Skin / Ectodermal Dysplasia Type of study: Diagnostic study / Prognostic study / Risk factors Limits: Humans / Male / Infant, Newborn Language: English Journal: West Indian med. j Journal subject: Medicine Year: 2013 Document type: Article Institution/Affiliation country: Clinical Center/RS
...