期刊
DERMATOLOGIC CLINICS
卷 28, 期 1, 页码 119-+出版社
W B SAUNDERS CO-ELSEVIER INC
DOI: 10.1016/j.det.2009.10.013
关键词
FERMT1, Fermitin family homolog 1; Actin; Blistering; Skin atrophy; Poikiloderma
类别
资金
- The Wellcome Trust
- British Association of Dermatologists
- British Skin Foundation
- Department of Health via the National Institute for Health Research
Kindler syndrome (MIM173650) is an autosomal recessive genodermatosis characterized by poikiloderma, trauma-induced skin blistering, mucosal inflammation, and photosensitivity. Loss-of-function mutations in the FERMT1 gene are the cause of Kindler syndrome. Kindler syndrome is categorized as a subtype of epidermolysis bullosa (EB). During infancy and childhood, there is clinical overlap between Kindler syndrome and dystrophic EB. Unlike other forms of EB, Kindler syndrome is characterized by impaired actin cytoskeleton-extracellular matrix interactions and a variable plane of blister formation at or close to the dermal-epidermal junction. This article reviews clinicopathologic and molecular features of Kindler syndrome and discusses patient management.
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