[Kindler syndrome: presentation of a case].
Kindler syndrome is a very rare disease caused by mutations resulting in defects in the extracellular matrix-actin link. It usually presents with acral blistering from birth in trauma-prone areas, pronounced photosensitivity that improves with age and the development of poikiloderma and cutaneous atrophy. Mucosal involvement and degeneration have been described with relative frequency.
Servicio de Dermatología, Hospital de Cabueñes, Gijón, Spain. susana2505@yahoo.com
Susana
S
Mallo
Eloy
E
Rodríguez-Díaz
Susana
S
Blanco
César
C
Alvarez-Cuesta
Cristina
C
Galache
Dolores
D
Nosti
D000199:Actins / Q000235:genetics; D000328:Adult; D016326:Extracellular Matrix Proteins / Q000235:genetics; D006801:Humans; D008297:Male; D009154:Mutation; D012871:Skin Diseases / Q000175:diagnosis* / Q000235:genetics; D013577:Syndrome
D000199:Actins; D016326:Extracellular Matrix Proteins