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Kindler syndrome

Author
Cristina Has, MD
Section Editor
Jonathan A Dyer, MD
Deputy Editor
Rosamaria Corona, MD, DSc

INTRODUCTION

Kindler syndrome (KS, MIM# 173650), also known as Weary-Kindler syndrome, is a rare autosomal recessive type of epidermolysis bullosa characterized by skin blistering, photosensitivity, progressive poikiloderma (the combination of skin atrophy, telangiectasias, and pigmentary changes), extensive skin atrophy, and squamous cell carcinomas of skin and mucosal membranes. It was first described in 1954 by Theresa Kindler and considered a poikilodermatous disorder until 2008, when it was classified as a distinct type of epidermolysis bullosa [1]. As the first genetic cutaneous disorder associated with alterations in a protein of focal adhesions, KS and its pathogenesis became an important model for understanding the role of focal adhesions in the skin.

This topic will discuss the pathogenesis, clinical features, diagnosis, and management of Kindler syndrome. Other types of inherited epidermolysis bullosa are discussed separately.

(See "Epidemiology, pathogenesis, classification, and clinical features of epidermolysis bullosa".)

(See "Diagnosis of epidermolysis bullosa".)

(See "Overview of the management of epidermolysis bullosa".)

                     

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Literature review current through: Nov 2016. | This topic last updated: Mon Sep 28 00:00:00 GMT+00:00 2015.
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