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.
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http://dx.doi.org/10.1590/s0365-05962012000500020 | DOI Listing |
Orphanet J Rare Dis
September 2024
Faculty of Health Sciences, University of Castilla-La Mancha, Talavera de la Reina, 45600, Spain.
Front Pediatr
September 2024
Laboratory of Genetic Metabolism Center, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.
Front Oral Health
September 2024
Department of Oral and Maxillofacial Surgery, A B Shetty Memorial Institute of Dental Sciences, Nitte (Deemed to be University), Deralakatte, India.
JAMA Dermatol
October 2024
Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada.
JAMA Dermatol
October 2024
Department of Dermatology, Medical Faculty and Medical Center, University of Freiburg, Freiburg, Germany.
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