Calcification of Entheses Associated with X-Linked Hypophosphatemic Osteomalacia

• Published in: The New England journal of medicine Vol. 313; no. 1; pp. 1 - 6
• Main Authors: Polisson, Richard P, Martinez, Salutario, Khoury, Maroon, Harrell, R. Mack, Lyles, Kenneth W, Friedman, Nancy, Harrelson, John M, Reisner, Emily, Drezner, Marc K
• Format: Journal Article
• Language: English
• Published: Boston, MA Massachusetts Medical Society 04.07.1985
• Subjects: Adolescent; Adult; Antigens; Arthritis; Biological and medical sciences; Calcification; Calcinosis - complications; Calcinosis - diagnostic imaging; Calcinosis - pathology; Child; Child, Preschool; Diseases of the osteoarticular system; Female; HLA Antigens - analysis; Humans; Hypophosphatemia; Hypophosphatemia, Familial - complications; Infant; Inflammation; Joint diseases; Joint Diseases - complications; Lamellar bone; Ligaments; Ligaments - diagnostic imaging; Male; Medical sciences; Metabolism; Middle Aged; Osteomalacia; Osteomalacia - complications; Osteomalacia - genetics; Osteoporosis. Osteomalacia. Paget disease; Patients; Radiography; Radiology; Retrospective Studies; Rickets; Spondyloarthropathy; Synovial Membrane - diagnostic imaging; Tendons; Tendons - diagnostic imaging; Tendons - pathology; Vitamin D; Calcification; Hypophosphatemia; Metabolic disorder; Bone disease; Osteomalacia
• ISSN: 0028-4793; 1533-4406
• DOI: 10.1056/NEJM198507043130101

We undertook a retrospective analysis of 26 patients with X-linked hypophosphatemic osteomalacia (or rickets), whose ages ranged from 1 to 62 years and who were from 11 different kindreds, to determine the prevalence and clinical characteristics of a unique disorder of the entheses (tendons, ligaments, and joint capsules). We found a generalized involvement of the entheses, with exuberant calcification of tendon and ligament insertions and of joint capsules, in 69 per cent of the subjects. The prevalence and extent of disease increased with age but were not correlated with sex. Commonly affected sites included the hand and sacroiliac joints. Histologic evaluation in a selected patient revealed intratendinous lamellar bone but no inflammatory cells. Our observations indicate that this disorder is an integral part of X-linked hypophosphatemic osteomalacia and exhibits clinical, radiographic, and histologic characteristics that differentiate it from degenerative disorders of these tissues and seronegative spondyloarthropathies. (N Engl J Med 1985; 313:1–6.) X-LINKED hypophosphatemic osteomalacia (or rickets) is the prototypic vitamin D–resistant disease in human beings. 1 , 2 It is characterized by hypophosphatemia, impaired renal tubular reabsorption of phosphate, and defective calcification of cartilage and bone. 3 4 5 6 Some affected persons with skeletal hypomineralization may have extraskeletal calcifications, as documented by several reports. 7 8 9 10 11 12 The apparently infrequent occurrence of this finding and the absence of evidence for a generalized soft-tissue disease process have hindered recognition of extraskeletal calcification as a component of X-linked hypophosphatemic osteomalacia. We undertook a retrospective analysis to assess the prevalence and clinical features of extraskeletal calcification in X-linked hypophosphatemic osteomalacia, including the radiologic . . .