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.
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Authors | Luciana Mendes, Lisiane Nogueira, Virginia Vilasboas, Carolina Talhari, Sinésio Talhari, Mônica Santos |
Journal | Anais brasileiros de dermatologia
(An Bras Dermatol)
Vol. 87
Issue 5
Pg. 779-81
( 2012)
ISSN: 1806-4841 [Electronic] Spain |
PMID | 23044576
(Publication Type: Case Reports, Journal Article)
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Topics |
- Blister
(pathology)
- Child, Preschool
- Epidermolysis Bullosa
(pathology)
- Female
- Humans
- Male
- Periodontal Diseases
(pathology)
- Phenotype
- Photosensitivity Disorders
(pathology)
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