Recurrent MVD mutation in European patients with disseminated porokeratosis

Porokeratosis (PK) comprises clinically and genetically heterogeneous disorders of keratinisation. They manifest with marginate scaling lesions, histologically showing a column of parakeratotic keratinocytes, the cornoid lamella. Porokeratotic conditions were historically classified into several clinical forms based on distribution and morphology of the lesions, e.g. disseminated porokeratoses, porokeratosis of Mibelli, giant porokeratosis, palmoplantar porokeratosis Mantoux and linear porokeratosis.