SNOMEDCT: 27201004, 63122002; ORPHA: 955;
Schinz et al. (1951) described dominant inheritance of slowly progressive osteolysis of the phalanges in the hands and feet associated with recurrent ulcers of the fingers and soles, elimination of bone sequestra, and healing with loss of toes or fingers, with onset between 8 and 22 years. Lamy and Maroteaux (1961) described a dominant form in mother and son. Members of 2 earlier generations were also affected. No abnormality of sensation was present. Maroteaux (1970) found no basilar impression or other changes in the skull or long bones to suggest that this was Cheney syndrome (102500). Reed (1974) reported other families.
A phenocopy is produced in men working in the polymerization of vinyl chloride (Harris and Adams, 1967; Ross, 1970).
Harms, I. Ueber die familiaere Akro-osteolyse. Fortschr. Roentgenstr. 80: 727-733, 1954.
Harris, D. K., Adams, W. G. F. Acro-osteolysis occurring in men engaged in the polymerization of vinyl chloride. Brit. Med. J. 3: 712-714, 1967. [PubMed: 6038365] [Full Text: https://doi.org/10.1136/bmj.3.5567.712]
Lamy, M., Maroteaux, P. Acro-osteolyse dominante. Arch. Franc. Pediat. 18: 693-702, 1961. [PubMed: 14461884]
Maroteaux, P. Personal Communication. Paris, France 1970.
Reed, W. B. Personal Communication. Burbank, Calif. 1974.
Ross, J. A. An unusual occupational bone change.In: Jelliffe, A. M.; Strickland, B. : Symposium Ossium. London: Livingstone (pub.) 1970.
Schinz, H. R., Baensch, W. E., Friedl, E., Uehlinger, E. Roentgen-Diagnostics. Vol. 1. Part 1. English translation by J. T. Case. New York: Grune and Stratton (pub.) 1951. P. 734. Note: Fig. 969.