[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.
Mallo
Susana
S
Servicio de Dermatología, Hospital de Cabueñes, Gijón, Spain. susana2505@yahoo.com
Rodríguez-Díaz
Eloy
E
Blanco
Susana
S
Alvarez-Cuesta
César
C
Galache
Cristina
C
Nosti
Dolores
D
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