Kindler syndrome: a rare case report from Greece

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...

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Detalles Bibliográficos
Autores principales: Gkaitatzi, Maria, Kalloniati, Evangelia, Has, Cristina, Kiritsi, Dimitra, Spiliopoulos, Theofanis, Georgiou, Sophia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6396407/
https://www.ncbi.nlm.nih.gov/pubmed/30838128
http://dx.doi.org/10.1093/omcr/omz003
Descripción
Sumario: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.