Figure 2. Clinical presentation of three patients in the Chinese family.

The proband (IV1) showed symmetric, focal palmoplantar keratoderma, scleodactyly-like appearance, cone-shaped fingers, desquamation and warmth in the extremities. The hyperkeratotic plaques remained focal all through and primarily distributed in islands on the pressure sites, with no transgrediens extension (a–c). His mother (III1) presented with focal palmoplantar keratoderma and obvious pseudoainhum (d). His maternal grandfather (II4) manifested with focal keratotic plaques on the soles and desquamation on the palms (e,f).