Hair abnormalities in genetic disorders of junctions
- PMID: 20805970
- PMCID: PMC2929547
- DOI: 10.4103/0974-7753.51926
Hair abnormalities in genetic disorders of junctions
Abstract
The desmosomes form the basis of intercellular support structure within the epidermis. However, various junctions, including gap junctions, adherens junctions, and tight junctions play an important part in the intercellular bridges that are vital for cell-cell interactions and structural stability. Numerous mutations can affect the genetic structure that make up these junctions and in turn cause disease. Most of these conditions have hair abnormalities and this article will briefly elucidate the various manifestations in the hair. As these junctional elements are found in other organs like the heart, liver, and eye, there could be serious systemic associations along with the hair changes.
Keywords: Adherens; desmosomes; gap junctions; tight junctions.
Conflict of interest statement
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References
-
- Lai-Cheong J, Arita K, McGrath JA. Genetic diseases of junctions. J Invest Dermatol. 2007;127:2713–25. - PubMed
-
- Indelman M, Bergman R, Lurie R, Richard G, Miller B, Petronius D, et al. A missense mutation in CDH3, encloding P-cadherin, causes hypotrichosis with juvenile macular dystrophy. J Invest Dermatol. 2002;119:1210–3. - PubMed
-
- Sprecher E, Bergman R, Richard G, Lurie R, Shalev S, Petronius D, et al. Hypotrichosis with juvenile macular dystrophy is caused by a mutation in CDH3, encoding P-cadherin. Nat Genet. 2001;29:134–6. - PubMed
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