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MIM.601975 1q32

Friday 21 January 2005

Desmosomes are adhesive intercellular junctions that link adjacent cells and provide anchoring points for the keratin filament cytoskeleton. The mechanical integrity of desmosomes depends on a complex network of transmembranous and cytoplasmic proteins and glycoproteins each encoded by distinct genes.

Naturally occurring human mutations in one of these desmosomal structural components, plakophilin-1 (PKP1), have been described.

The clinical features of the affected individuals, who have total ablation of plakophilin-1, comprise a combination of skin fragility and ectodermal dysplasia with loss of hair, reduced sweating and nail dystrophy.

Desmosomes in the skin are small and poorly formed and there is widening of intercellular spaces between keratinocytes as well as detachment of the keratin filament network from the cell membrane.

These clinicopathological observations demonstrate the relevance of plakophilin-1 to keratinocyte adhesion and epidermal morphogenesis.


- germline mutations in ectodermal dysplasia/skin fragility syndrome (MIM.604536)


- McGrath JA. A novel genodermatosis caused by mutations in plakophilin-1, a structural component of desmosomes. J Dermatol. 1999 Nov;26(11):764-9. PMID: 10635620