Keratoderma, Palmoplantar, With Nail Dystrophy And Hereditary Motor-Sensory Neuropathy

Tolmie et al. (1988) described a syndrome of palmoplantar keratoderma, dystrophy of the fingernails, and hereditary motor and sensory neuropathy in 10 members of 4 generations. The nail dystrophy affected both the toenails and the fingernails; it was present at birth or developed during early childhood. Palmoplantar keratoderma became apparent in later childhood. Each subject with nail dystrophy and keratoderma also had clinical or electrophysiologic evidence of axonal neuropathy. The clinical signs were as mild as moderately severe pes cavus, with no symptoms attributable to neuropathy, in a 60-year-old patient, the oldest affected in the pedigree. The combination of palmoplantar keratoderma and Charcot-Marie-Tooth disease was reported in an Italian family by Rabbiosi et al. (1980). The clinical and electrophysiologic findings were thought to indicate an axonal neuropathy. However, nail dystrophy was not noted in that report, whereas it was a constant finding in the affected subjects reported by Tolmie et al. (1988). See 309560 for a possibly X-linked disorder combining keratoderma, spastic paraplegia, and nail dystrophy. Powell et al. (1983) described autosomal dominant inheritance of a distinctive keratoderma with spastic paraplegia. Nail dystrophy was not noted. Both the palmoplantar keratodermas and the hereditary and motor sensory neuropathies show extensive genetic heterogeneity. The syndrome reported by Tolmie et al. (1988) is another example of this heterogeneity.