Summary
We present a detailed metabolic investigation and 42-year radiological follow-up of a 52-year-old man with mixed-sclerosing-bone-dystrophy, the rare occurrence of two or more distinct patterns of sclerosing-bone-dysplasia (e.g., osteopathia striata, osteopoikilosis, melorheostosis) in a single subject. Review of radiographs from 1942, when he was reported to have osteopetrosis, demonstrated diffuse osteosclerosis, osteopathia striata, osteopoikilosis, and focal cortical hyperostosis. Forty-two years later, there had been significant progression and evolution of his skeletal disease with the appearance of new areas of osteopathia striata and osteopoikilosis and a generalized increase in skeletal mass as assessed radiographically. Presence of subperiosteal bone apposition on biopsy of the iliac crest together with chronic mild hypocalcemia, secondary hyperparathyroidism, and hypophosphatemia suggested that enhanced bone formation, perhaps with defective skeletal resorption, is a fundamental abnormality which accounts for the increased bone mass of this patient.
Similar content being viewed by others
References
Beighton P, Cremin B (1980) Sclerosing bone dysplasias. Springer-Verlag, Berlin, Heidelberg, New York
Resnick D, Niwayama G (1981) Diagnosis of bone and joint disorders. W. B. Saunders, Philadelphia, pp 2972–2973
Walker GF (1964) Mixed sclerosing bone dystrophies. J Bone Joint Surg (Br) 46:546–552
Zimmermann CAW (1943) Osteopetrosis (Albers-Schonberg Disease), with case report. Radiology 40:155–162
Jowsey J (1977) Metabolic diseases of bone. W. B. Saunders. Philadelphia, p. 174
Horan FT, Beighton PH (1978) Osteopathia striata with cranial sclerosis. An autosomal dominant entity. Clin Genet 13:201–206
Abrahamson MN (1968) Disseminated asymptomatic osteosclerosis with features resembling melorheostosis, osteopoikilosis, and osteopathia striata. J Bone Joint Surg (Am) 50:991–996
Elkeles A (1976) Mixed sclerosing bone dystrophy with regression of melorheostosis (Letter) Br J Radiol 49:97
Ewald FC (1972) Unilateral mixed sclerosing bone dystrophy associated with unilateral lymphangiectasis and capillary hemangioma. J Bone Joint Surg (Am) 54:878–880
Kanis JA, Thomson JG (1975) Mixed sclerosing bone dystrophy with regression of melorheostosis. Br J Radiol 48:400–402
Whyte MP, Murphy WA, Fallon MD, Hahn TJ (1981) Mixed-sclerosing-bone-dystrophy: report of a case and review of the literature. Skeletal Radiol 6:95–102
Epker BN, Frost HM (1965) A histological study of remodeling at the periosteal, haversian canal, cortical endosteal, and trabecular endosteal surfaces in human rib. Anatomical Record 152:129–136
Shires R, Avioli LV, Bergfeld MA, Fallon MD, Slatopolsky E, Teitelbaum SL (1980) Effects of semistarvation on skeletal homeostasis. Endocrinology 107:1530–1535
Fallon MD, Teitelbaum SL (1982) The interpretation of fluorescent tetracycline marking in the diagnosis of metabolic bone disease. Human Pathol 13:416–418
Whyte MP, Murphy WA (1979) Osteopathia striata associated with familial dermopathy and white forelock: evidence for postnatal development of osteopathia striata. Am J Medical Genetics 5:227–234
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Pacifici, R., Murphy, W.A., Teitelbaum, S.L. et al. Mixed-sclerosing-bone-dystrophy: 42-year follow-up of a case reported as osteopetrosis. Calcif Tissue Int 38, 175–185 (1986). https://doi.org/10.1007/BF02556878
Received:
Revised:
Issue Date:
DOI: https://doi.org/10.1007/BF02556878