Anais Brasileiros de Dermatologia · 2012 · 11 citations · 6 references
MedicineDermatologyGeneticsHuman GeneticsMedical GeneticsPediatric DermatologyCongenital Skin DisordersGenetic DisordersGenetic Photosensitivity DisordersGenetic SyndromesPhotosensitivity DisordersSyndromic GenodermatosesConsanguineous MarriageCutaneous AtrophyCutaneous BlisteringKindler SyndromeLoss-of-function MutationsPhotosensitivity SyndromesPoikiloderma SyndromesSkin Genodermatoses
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.
6
Jo‐David Fine, Robin A.J. Eady, Eugene A. Bauer et al. · Journal of the American Academy of Dermatology · 2008 · 933 citations
Medicine, Dermatology, Pathology +6
Dawn H. Siegel, G H S Ashton, Homero Penagos et al. · The American Journal of Human Genetics · 2003 · 344 citations · Full text
Kindler Syndrome in Native Americans From Panama
Homero Penagos, Marta Jaén, Mario T. Sancho et al. · Archives of Dermatology · 2004 · 77 citations
Life Sciences, Dermatology, Genetics +11
Kindler syndrome: a case report and proposal for clinical diagnostic criteria.
Irena Angelova Fischer, Jana Kazandjieva, Snejina Vassileva et al. · PubMed · 2005 · 40 citations
Medicine, Dermatology, Genetics +16