Summary
Two families with familial neurogenic acro-osteolysis are reported. According to the classification of Sprangeret al., these cases fall into the category of Giaccai type idiopathic osteolysis. In all cases, the primary site of the osteolytic process was at the phalangeal regions with skin ulceration and sensory disturbance. In kindred I, two siblings born to the parents of consanguineous marriage were affected, indicating autosomal recessive inhereitance. In kindred II, cousin affection was observed. The terms “familial neurogenic acro-osteolysis” used in human genetics and orthopaedic surgery and “a recessive form of hereditary sensory radicular neuropathy” used in neuro-medicine seem to indicate the same disease.
Similar content being viewed by others
Article PDF
References
Axelrod, F. 1983. Autonomic and sensory disorders. InPrinciples and Practice of Medical Genetics, Emery, A.H. and Rimon, D.L. eds., Churchill Livingstone, Edinburgh, London, Melbourne and New York, pp. 284–295.
Denny-Brown, D. 1951, Hereditary sensory radicular neuropathy.J. Neurol. Neurosurg. Psychiat. 14:237–252.
Hicks, E.P. and Camp, M.B. 1922. Hereditary perforating ulcer of the foot.Lancet i:319–321.
Kuroiwa, Y., and Murai, Y. 1964. Hereditary sensory radicular neuropathy with special reference to conduction velocity study.Neurology 14:574–577.
McKusick, V.A. 1983.Mendelian Inheritance in Man. Catalogs of autosomal dominant, autosomal recessive, and X-linked phenotypes, Sixth Ed., Johns Hopkins University Press, Baltimore and London, pp. 376–377.
Ogden, T.E., Robert, F. and Carmichael, E.A. 1959. Some sensory syndromes in children: indifference to pain and sensory neuropathy.J. Neurol. Neurosurg. Psychiat. 22:267–276.
Special report 1978. International nomenclature of constitutional diseases of bone.Am. J. Roentgenol.131: 352–354.
Spranger, L.W., Langer, L.O., and Wiedemann, H.R. 1974.Bone Dysplasias, Gustav Fischer Verlag, Stuttgart, pp. 211–218.
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Sugiura, Y., Sengoku, H. Familial neurogenic acro-osteolysis, type giaccai report of two families. Jap J Human Genet 31, 49–56 (1986). https://doi.org/10.1007/BF01876802
Received:
Issue Date:
DOI: https://doi.org/10.1007/BF01876802