Kindler syndrome: A focal adhesion genodermatosis
[ X ]
Tarih
2009
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
Kindler syndrome (OMIM 173650) is an autosomal recessive genodermatosis characterized by trauma-induced blistering, poikiloderma, skin atrophy, mucosal inflammation and varying degrees of photosensitivity. Although Kindler syndrome is classified as a subtype of epidermolysis bullosa, it has distinct clinicopathological and molecular abnormalities. The molecular pathology of Kindler syndrome involves loss-of-function mutations in a newly recognized actin cytoskeleton-associated protein, now known as fermitin family homologue 1, encoded by the gene FERMT1. This protein mediates anchorage between the actin cytoskeleton and the extracellular matrix via focal adhesions, and thus the structural pathology differs from other forms of epidermolysis bullosa in which there is a disruption of the keratin intermediate filament-hemidesmosome network and the extracellular matrix. In the skin, fermitin family homologue 1 is mainly expressed in basal keratinocytes and binds to the cytoplasmic tails of ?1 and ?3 integrins as well as to fermitin family homologue 2 and filamin-binding LIM protein 1. It also plays a crucial role in keratinocyte migration, proliferation and adhesion. In this report, we review the clinical, cellular and molecular pathology of Kindler syndrome and discuss the role of fermitin family homologue 1 in keratinocyte biology.
Açıklama
Anahtar Kelimeler
Actin, Blistering, Fermitin, Fermt1, Focal adhesion, Inherited skin disease, Poikiloderma
Kaynak
British Journal of Dermatology
WoS Q Değeri
Scopus Q Değeri
Q1
Cilt
160
Sayı
2
Künye
Lai-Cheong, J. E., Tanaka, A., Hawche, G., Emanuel, P. O. M., Maari, C. H., Taşkesen, M. ve diğerleri. (2009). Kindler syndrome: A focal adhesion genodermatosis. British Journal of Dermatology, 160(2), 233-242.
