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Carmi Syndrome in a Preterm Neonate: A Multidisciplinary Approach and Ethical Challenge
Joint Authors
Hicks, Timothy D.
Singh, Himanshu
Mikhael, Michel
Shah, Anita R.
Source
Issue
Vol. 2018, Issue 2018 (31 Dec. 2018), pp.1-6, 6 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2018-12-20
Country of Publication
Egypt
No. of Pages
6
Main Subjects
Abstract EN
Epidermolysis bullosa (EB) is characterized by blistering of the skin and mucosal erosions caused by hemidesmosomal abnormalities.
EB is divided into 3 major subgroups depending on the particular location of tissue separation: EB simplex, dystrophic EB, and junctional EB.
Junctional EB (JEB) can further be broken down into Herlitz, non-Herlitz, and JEB with pyloric atresia (Carmi syndrome) depending on genetic and histologic testing.
When extensive, management of a patient with EB can be challenging due to not only cutaneous but also extracutaneous manifestations as well.
Families and health care teams are often faced with difficult decisions in their infant’s best interest.
We report a case of a preterm neonate with Carmi syndrome and unique findings on immunofluorescence studies.
The patient’s course was complicated by multisystem involvement and ultimately death.
A multidisciplinary approach was crucial in the light of diagnostic, therapeutic, and ethical challenges.
American Psychological Association (APA)
Hicks, Timothy D.& Singh, Himanshu& Mikhael, Michel& Shah, Anita R.. 2018. Carmi Syndrome in a Preterm Neonate: A Multidisciplinary Approach and Ethical Challenge. Case Reports in Pediatrics،Vol. 2018, no. 2018, pp.1-6.
https://search.emarefa.net/detail/BIM-1149082
Modern Language Association (MLA)
Hicks, Timothy D.…[et al.]. Carmi Syndrome in a Preterm Neonate: A Multidisciplinary Approach and Ethical Challenge. Case Reports in Pediatrics No. 2018 (2018), pp.1-6.
https://search.emarefa.net/detail/BIM-1149082
American Medical Association (AMA)
Hicks, Timothy D.& Singh, Himanshu& Mikhael, Michel& Shah, Anita R.. Carmi Syndrome in a Preterm Neonate: A Multidisciplinary Approach and Ethical Challenge. Case Reports in Pediatrics. 2018. Vol. 2018, no. 2018, pp.1-6.
https://search.emarefa.net/detail/BIM-1149082
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1149082