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Giornale Italiano di Dermatologia e Venereologia 2018 February;153(1):111-4

DOI: 10.23736/S0392-0488.16.04887-2

Copyright © 2015 EDIZIONI MINERVA MEDICA

lingua: Inglese

Kindler syndrome: the case of two Iranian sisters

Saeed KARGAR 1, Seyed M. SHIRYAZDI 1 , Hossein NEAMATZADEH 2, 3, Vahid RAMAZANI 4

1 Department of General Surgery, Shahid Sadoughi Hospital, Shahid Sadoughi University of Medical Sciences, Yazd, Iran; 2 Department of Medical Genetics, Shahid Sadoughi University of Medical Sciences, Yazd, Iran; 3 Mother and Newborn Health Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran; 4 Islamic Azad University, Ashkzar Branch, Ashkzar, Yazd, Iran


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Kindler syndrome is a rare autosomal recessive condition, characterized by multiple skin and mucosal abnormalities. Among the latter, esophageal involvement is an infrequent manifestation which may be completely asymptomatic or complicated by dysphagia. We report the case of two sisters presenting with cutaneous features and severe dysphagia. Endoscopic examination showed that the patients were affected by a rare condition named “esophageal web”. Both patients showed significant improvement after balloon dilation. Clinicians should be aware of the potential complications of this disease, and the approach by balloon dilation should be considered as primary therapy in Kindler syndrome patients with esophageal web.


KEY WORDS: Poikiloderma of Kindler - Esophagus - Esophageal web - Epidermolysis bullosa

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