| Literature DB >> 23044576 |
Luciana Mendes1, Lisiane Nogueira, Virginia Vilasboas, Carolina Talhari, Sinésio Talhari, Mônica Santos.
Abstract
Kindler syndrome is a rare autosomal recessive genodermatosis characterized by trauma-induced blisters, progressive poikiloderma and varying degrees of photosensitivity. In 2003, loss-of-function mutations were identified in the gene KIND1 mapped to chromosome 20p12.3. In this paper, we report Kindler syndrome in two children born to consanguineous parents presenting acral blistering, photosensitivity, poikiloderma, cutaneous atrophy and periodontitis.Entities:
Mesh:
Year: 2012 PMID: 23044576 DOI: 10.1590/s0365-05962012000500020
Source DB: PubMed Journal: An Bras Dermatol ISSN: 0365-0596 Impact factor: 1.896