palmoplantar keratoderma striate type 1

palmoplantar keratoderma striate type 1

An autosomal dominant dermopathy (OMIM:148700) characterised by thickening of the skin on the palms and soles, and longitudinal hyperkeratotic lesions on the palms running the length of each finger.

Molecular pathology
Defects in DSG1, which encodes desmoglein 1, a transmembrane glycoprotein component of desmosomes in epithelial cells, cause palmoplantar keratoderma striate type 1.
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