Kindler syndrome: a rare case report from Greece.


Journal

Oxford medical case reports
ISSN: 2053-8855
Titre abrégé: Oxf Med Case Reports
Pays: England
ID NLM: 101642070

Informations de publication

Date de publication:
Feb 2019
Historique:
received: 05 11 2018
revised: 27 12 2018
accepted: 16 01 2019
entrez: 7 3 2019
pubmed: 7 3 2019
medline: 7 3 2019
Statut: epublish

Résumé

Kindler syndrome is a rare autosomal recessive inherited disease characterized by infantile acral bullae, progressive poikiloderma, cutaneous atrophy, photosensitivity and various forms of mucosal involvement. In this paper, we report a case of a 49-year-old Greek Caucasian male aiming to emphasize the importance of genetic analysis as a gold standard of diagnosis.

Identifiants

pubmed: 30838128
doi: 10.1093/omcr/omz003
pii: omz003
pmc: PMC6396407
doi:

Types de publication

Case Reports

Langues

eng

Pagination

omz003

Références

Br J Dermatol. 1954 Mar;66(3):104-11
pubmed: 13149722
Acta Dermatovenerol Alp Pannonica Adriat. 2005 Jun;14(2):61-7
pubmed: 16001103
Acta Derm Venereol. 2011 May;91(3):267-70
pubmed: 21336475
Indian J Dermatol. 2010 Oct;55(4):393-6
pubmed: 21430900
J Clin Invest. 2012 May;122(5):1742-6
pubmed: 22466645
An Bras Dermatol. 2012 Sep-Oct;87(5):779-81
pubmed: 23044576
Indian J Dermatol. 2016 Jul-Aug;61(4):468
pubmed: 27512212

Auteurs

Maria Gkaitatzi (M)

Department of Dermatology, University of Patras, Greece.

Evangelia Kalloniati (E)

Department of Dermatology, University of Patras, Greece.

Cristina Has (C)

Department of Dermatology, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany.

Dimitra Kiritsi (D)

Department of Dermatology, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany.

Theofanis Spiliopoulos (T)

Department of Dermatology, University of Patras, Greece.

Sophia Georgiou (S)

Department of Dermatology, University of Patras, Greece.

Classifications MeSH