Whats new in genodermatoses?
Recent genetic analysis of the genodermatoses, in particular the palmoplantar keratodermas, has identified the important role of proteins involved in the regulation and formation of epidermal cell junctions. There are four major types of junction, of which three have been demonstrated to be important in skin, and in which component proteins such as desmoplakin and connexins are mutated in epidermal disease. These are the gap junctions, desmosomes and adherens junctions. These junctions are responsible for cell-cell adhesion and communication, key properties to maintain the normal cellular phenotype and tissue architecture.
Fear
M W
MW
Centre for Cutaneous Research, St. Bartholomews', Royal London School of Medicine and Dentistry, Queen Mary and Westfield College, 2 Newark Street, Whitechapel, London E1 2AT, UK.
Hatsell
S J
SJ
Leigh
I M
IM
Kelsell
D P
DP
D017629:Gap Junctions / Q000502:physiology*; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D006801:Humans; D012871:Skin Diseases / Q000235:genetics*