Connexin disorders of the skin.
Over the past decade, the molecular basis of most disorders of cornification has been unveiled. Among these, a distinct group has emerged because of primary defects in cell-cell communication due to faulty gap junction proteins also known as connexins. This review aims to delineate the cutaneous connexin disorders and to highlight intriguing genotype-phenotype correlations and emanating clinical implications.
Richard
Gabriele
G
Department of Dermatology and Cutaneous Biology and the Jefferson Institute of Molecular Medicine, Jefferson Medical College, Philadelphia, PA 19107, USA. gabriele.richard@jefferson.edu
D000328:Adult; D017677:Age Distribution; D002450:Cell Communication / Q000235:genetics / Q000502:physiology; D002675:Child, Preschool; D017630:Connexins / Q000235:genetics*; D005260:Female; D017629:Gap Junctions / Q000235:genetics*; D018507:Gene Expression Regulation, Developmental; D020022:Genetic Predisposition to Disease; D006801:Humans; D015994:Incidence; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D011379:Prognosis; D018570:Risk Assessment; D017678:Sex Distribution; D012873:Skin Diseases, Genetic / Q000175:diagnosis* / Q000453:epidemiology; D012879:Skin Physiological Phenomena
D017630:Connexins