[Congenital pachyonychia, neurofibromatosis and sensory-motor polyneuropathy]

A 71-year-old man consulted because he could not walk due to spots of hyperalgic, invalidating plantar keratodermia. A nearly identical symptomatology was observed in several members of the family suggesting an autosomal dominant hereditary disease due to painful callosities as described by Roth in 1978.

The patient had pachyonychia on all fingers and toes, only the ring fingers and the fifth toes were not involved. Multiple epidermoid follicular cysts were also found on the trunk suggesting the diagnosis of type II hereditary pachyonychia or Jackson-Lawler disease. Axonal polyneuropathy was also found with cutaneous signs of neurofibromatosis. Cytology studies were performed in order to elucidate the relationship between these different findings. It was not possible to retain the diagnosis of complex axonal polyneuropathy as described by Tolmie where autosomal dominant inheritance of early onset ungueal dystrophy is associated with punctuated palmoplantar keratodermia and hereditary sensoromotor axonal neuropathy.

This patient presented several types of complex neurocutaneous manifestations which could not be successfully related to each other.