Carmi Syndrome

2021 ◽  
Author(s):  
Yusra Sheikh ◽  
Adeel Qamar
Keyword(s):  
Carmi Syndrome

scholarly journals Mucosal Irregularity on Gastric Contrast Study in a Case of Carmi Syndrome

2017 ◽  
Vol 6 (2) ◽  
pp. 54 ◽  
Author(s):  
Sudhir Singh ◽  
Nitin Pant ◽  
JD Rawat ◽  
Yadvendra Dheer
Keyword(s):  
Contrast Study ◽  
Carmi Syndrome

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scholarly journals Large Gastric Perforation in Carmi Syndrome: A Morbid Complication in a Rare Association

2012 ◽  
Vol 1 (4) ◽  
pp. 57 ◽  
Author(s):  
M Joshi ◽  
L Krishnan ◽  
S Kuruvila
Keyword(s):  
Epidermolysis Bullosa ◽  
Preterm Neonate ◽  
Gastric Perforation ◽  
Pyloric Atresia ◽  
Rare Association ◽  
Carmi Syndrome

The association between epidermolysis bullosa (EB) and congenital pyloric atresia (CPA) named Carmi Syndrome is rare. We report unusual and morbid complication of gastric perforation resulting in peritonitis in a preterm neonate born with Carmi Syndrome.

Carmi syndrome with congenital heart defects

2010 ◽  
Vol 152A (8) ◽  
pp. 2120-2122 ◽  
Author(s):  
Mustafa Aydin ◽  
Aysegul Zenciroglu ◽  
Ayhan Yaman ◽  
Utku Arman Orun ◽  
Nilufer Arda ◽  
...  
Keyword(s):  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Carmi Syndrome

scholarly journals Carmi Syndrome in a Preterm Neonate: A Multidisciplinary Approach and Ethical Challenge

2018 ◽  
Vol 2018 ◽  
pp. 1-6 ◽  
Author(s):  
Timothy D. Hicks ◽  
Himanshu Singh ◽  
Michel Mikhael ◽  
Anita R. Shah
Keyword(s):  
Multidisciplinary Approach ◽  
Preterm Neonate ◽  
Ethical Challenge ◽  
Ethical Challenges ◽  
Health Care Teams ◽  
Best Interest ◽  
Pyloric Atresia ◽  
Tissue Separation ◽  
Multisystem Involvement ◽  
Carmi Syndrome

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.

Carmi syndrome associated with gastric perforation

2013 ◽  
Vol 9 (3) ◽  
pp. 122-123
Author(s):  
Purnachandra Das ◽  
Prathvi Shetty
Keyword(s):  
Gastric Perforation ◽  
Carmi Syndrome

scholarly journals Carmi Syndrome in a Neonate: An Exacting Surgical Challenge

Cureus ◽  
2020 ◽  
Author(s):  
Ahmad A Al Faqeeh ◽  
Muhammad Khalid Syed ◽  
Salman Hussain ◽  
Talal Almas ◽  
Mohammed Ammar
Keyword(s):  
Carmi Syndrome

Clinical outcomes and molecular profile of patients with Carmi syndrome: A systematic review and evidence quality assessment

2019 ◽  
Vol 54 (7) ◽  
pp. 1351-1358 ◽  
Author(s):  
Konstantinos S. Mylonas ◽  
Meaghan Hayes ◽  
Lauren N. Ko ◽  
Cornelia L. Griggs ◽  
Daniela Kroshinsky ◽  
...  
Keyword(s):  
Systematic Review ◽  
Quality Assessment ◽  
Clinical Outcomes ◽  
Molecular Profile ◽  
Evidence Quality ◽  
Carmi Syndrome
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