A rare hereditary syndrome affecting both sexes, with onset between 15 and 35 years of age, most commonly at puberty. It is characterized by sensory disorders of the lower extremities, leading to perforating ulceration of the feet and destruction of the underlying bones. Primary degeneration of the posterior root ganglia is the chief pathological feature, and ulceration of the pressure points is the earliest symptom. Bone lesions usually include acroosteolysis, destruction of the metatarsophalangeal joints, Charcot atrophy of the lower limbs, hemarthrosis, osteoporosis, fractures, and dislocations. Elephant foot, vasomotor disorders, and hypertrichosis are usually associated. In some cases later extension to upper extremities. Shooting pain and progressive deafness with atrophy of the cochlear and vestibular ganglia are the common features. Optic atrophy was observed in Thévenard's but no other cases.
The syndrome is usually transmitted as an autosomal dominant trait but recessive and sporadic cases have been reported.
- A. Nélaton:
Affection singulière des os du pied. Gazette des hôpitaux, Paris, 1852, 4: 13.
- D. E. Denny Brown:
Hereditary sensory radicular neuropathy.
Journal of Neurology, Neurosurgery and Psychiatry, London, 1951, 14: 237-252.
- E. P. Hicks:
Hereditary perforating ulcer of the foot. The Lancet, London, 1922, 1: 319-321.
- E. M. Smith:
Familial neurotrophic osseous atrophy: A familial neurotrophic condition of the feet with anesthesia and loss of bone.
Journal of the American Medical Association, Chicago, 1934, 102: 593-595.
- A. Thévenard:
L’acropathie ulcéro-mutilante familiale.
Revue neurologique, Paris, 1942, 74: 193-212.