Mild clinical phenotype of Kindler syndrome associated with late diagnosis and skin cancer

Has, Cristina and Burger, Bettina and Volz, A. and Kohlhase, Jürgen and Bruckner-Tuderman, Leena and Itin, Peter. (2010) Mild clinical phenotype of Kindler syndrome associated with late diagnosis and skin cancer. Dermatology (Basel, Switzerland), 221 (4). pp. 309-312.

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Official URL: https://edoc.unibas.ch/61429/

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Kindler syndrome (KS) is a heritable skin disorder with a complex phenotype consisting of congenital skin blistering, photosensitivity, progressive generalized poikiloderma and extensive skin atrophy. Here we describe 2 siblings with KS, who are, to the best of our knowledge, the oldest patients reported so far in the literature. The diagnosis was established in their seventh and eighth decades of life, and confirmed by mutation analysis. Both patients were homozygous for the recurrent FERMT1 mutation, c.328C→T, p.R110X. Because of a relatively mild course of the disease, mucosal membranes in the eyes and oesophagus being predominantly affected in recent years, they had been treated under other diagnoses, such as scleroderma. Cutaneous precancerous lesions and epithelial skin cancer arose in both siblings after the age of 50 years and were treated in an early stage. Taken together, we describe the natural course of KS, the morphological abnormalities occurring in the skin of older KS patients, we discuss the differential diagnosis and the association between KS and squamous cell carcinoma.
Faculties and Departments:03 Faculty of Medicine > Departement Biomedizin > Department of Biomedicine, University Hospital Basel > Dermatology (Itin)
UniBasel Contributors:Burger, Bettina
Item Type:Article, refereed
Article Subtype:Research Article
Note:Publication type according to Uni Basel Research Database: Journal article
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Last Modified:17 Jul 2020 08:59
Deposited On:17 Jul 2020 08:59

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