A new familial neurocutaneous syndrome consisting of palmoplantar keratoderma (PPK) and adult-onset leukoencephalopathy is reported in four siblings from Hadassah University Hospital, Jerusalem, Israel. The proband, a 41-year-old woman, had a progressive gait disorder and cognitive impairment of 3 years’ duration. Skin abnormalities had been present from early childhood: thick hyperkeratotic skin with numerous papules, most prominent over the palmar and plantar areas. Neurologic exam revealed cognitive impairments, generalized weakness with symmetric hyperreflexia, hypertonia, and Babinski signs. CSF protein was 1.18 g/L. MRI showed periventricular hyperintensity of white matter, brain atrophy, and thinning of the corpus callosum. Arylsulfatase A pseudodeficiency carrier state was identified by molecular analysis. Sural nerve biopsy showed loss of myelinated fibers. Bone X-rays showed osteochondritis dissecans of the talus. 
COMMENT. Neurologic complications of PPK are rare and late in onset.