Clinical rheumatology, 1992, 11, N ~ 3

413-415

Case Report

Nail-Patella Syndrome Associated with Mixed Crystal Deposition Arthropathy V.T.

PAPADAKOS,

A. S W A N , A . K . B H A L L A

Summary

This report describes a case of nail-patella syndrome in a woman with a strong family history who presented with effusions in her shoulder and knees. Microscopic examination of the shoulder fluid suggested the presence of calcium pyrophosphate dihydrate (CPPD) crystals, and examination of the knee fluid suggested both hydroxyapatite (HAP) and CPPD crystals. To our knowledge, the coexistence of these two conditions has not been reported in the past. Moreover, it brings up a new element regarding the inflammatory origin of the nail-patella syndrome.

Key words Nail-Patella Syndrome, Pyrophosphate, Hydroxyapatite.

INTRODUCTION

CASE REPORT

The nail-patella syndrome, also called hereditary osteo-onycho-dysplasia, arthroonycho-dysplasia, TurnerKieser syndrome (1), iliac horns syndrome and Fong's disease, described as early as 1820 by Chatelain (2), is a rare hereditary syndrome transmitted as an autosomal dominant trait (3). Both sexes are affected and it appears in 50 per cent of the offspring of an affected parent. The condition is characterized by nail dysplasia, dislocated hypoplastic or absent patellae, elbow changes with impairment of extension, pronation and supination of the forearm, iliac horns and renal disease. Thumb nail deformity ranges from longitudinal ridging to their complete absence. The elbow dysplasia consists of hypoplastic capitellum and radial head dislocation (4,5). The iliac horns, pathognomic of the syndrome, are usually symmetrical and project from the central areas of the iliac bones (6). In addition, hypermobile hips, hypoplastic pelvis, hypoplastic ulnae and heterochromia of the iris have been documented (7). Renal dysfunction varies from mild proteinuria, which is the cardinal manifestation, to renal failure (8). Renal changes include chronic glomerulonephritis (9), a consequence of secondary immune damage to an altered glomerular basement membrane (10,11).

In 1966, at the age of 54, a female was referred complaining of pain in her hips. On examination, her thumbnails were hypoplastic with concave configuration and the patellae were small. Hip movements were restricted bilaterally. Eye examination revealed severe myopia. X-ray of the pelvis showed osteoarthritis of the hips. Her father, 3 brothers and 1 sister had hypoplastic patellae and nail deformities. A diagnosis of secondary osteoarthritis of the hips was made and within 8 years she has needed bilateral hip replacement using the Charnley prostheses. Over the subsequent years, she had episodes of intermittent pain and swelling in the shoulders, elbows, MCP joints and knees. Nonsteroidal anti-inflammatory drugs, analgesics, intra-articular steroid injections and rehabilitative therapies were given. Laboratory investigations, including renal function, were normal. In November 1990 she was seen again because of increasing pain and swelling in the knees and right shoulder. Movements of the above joints were generally restricted. Right elbow and left ring finger exhibited a fixed flexion deformity. There was mild ulnar deviation of the MCP joints. Valgus deformity, instability and quadriceps atrophy were prominent on both knees. Radiographs of the elbows, hands and feet showed moderate degenerative changes with subluxation of the MCP joints. X-ray examination of the right shoulder (Fig. 1A) demonstrated glenohumeral narrowing with sclerosis.

Royal National Hospital for Rheumatic Diseases, Upper Borough Walls, Bath BA1 1RL, UK.

414

Fig. 1 :

V.T. Papadakos, A. Swan, A.K. Bhalla

Radiographs of the right shoulder (A) and weight-bearingview of the right knee showinghypoplastic patella (B).

DISCUSSION Cloudlike calcification was located in the rotator cuff and subacromial bursa. Cystic changes were noted at the site of insertion of the rotator cuff on the greater tuberosity of the humerus. Anteroposterior weight bearing views of the knees (Fig. 1B) showed lateral displacement of hypoplastic patellae with severe tibiofemoral osteoarthritis, in particular affecting the lateral compartments in which there was subchondral reactive sclerosis and minimal marginal osteophyte formation. Generalised osteopenia was evident. The right shoulder and both knees were aspirated and the synovial fluid examined by polarized light microscopy. Weakly positively birefringent crystals typical of CPPD were identified in all 3 joints. Alizarin red staining of both knee fluids showed numerous deeply red stained ovoids, possibly indicating clumps of HAP crystals. The shoulder specimen was not investigated further for apatite crystals.

Patients with the nail patella syndrome present clinically only when it leads to joint pain, restricted movement, or to a progressive nephropathy. The pathogenesis is unknown but it has been suggested that the arthropathy is related either to a generalised disorder of collagen or is inflammatory in origin (9). In a recent report of 2 cases there was evidence for diffuse inflammatory arthropathy for which no cause was found (12). We would like to suggest that the inflammatory arthropathy seen may relate to the presence of crystals within the joint. The radiological appearance of the shoulder and knees of this patient shares many features seen in apatite associated arthropatlay as described by McCarty (13) and Dieppe et al (14), particularly the involvement of the lateral compartment of the knee. While CPPD crystals correlate with increasing age (15), the presence of HA crystals suggests that they may play a role in the arthropathy of this syndrome. It is also likely, however, that the simultaneous occurrence of the above crystals may represent the final common pathway of the degenerative and ageing process.

Nail-patella syndrome and crystal arthropathy

415

REFERENCES

1.

2. 3. 4.

5. 6.

7. 8. 9.

10.

Turner, J.W. An hereditary arthrodysplasia associated with hereditary dystrophy of the nails. J Am Med Assoc 1933, 100, 882884. Chatelain : quoted by Roeckherath, W. Roefo 1820, 195, 75,700704. Valdueza, A.F. The nail patella syndrome. J Bone Joint Surg 1973, 55B, 145-162. Garces, M.A., Mutaskas, J.K., Mutaskas, E.K., Abdel-Hammed, M.F. Hereditary onycho-oste0-dysplasia (HOOD) syndrome: Report of two cases. Skeletal Radiol 1982, 8, 55-58. Hybbinette, C.H. The nail-patella-elbow syndrome. A case report. Acta Orthop Scand 1975, 46, 593-600. Darlington, D., Hawkins, C.F. Nail-patella syndrome with iliac horns and hereditary nephropathy. J Bone Joint Surg 1967, 49, 164-74. Lester, A.M. A familiar dyschondroplasia associated with anonychia and other deformities. Lancet ii, 1936, 1519-1521. Myers, H.S., Gregory, M. Renal failure in a 44-year-old female (Clinical Conference) Urol Radiol 1979, 251-253. Ben-Bassat, M., Cohen, L., Rosenfeld, J. The glomerular basement membrane in the nail patella syndrome. Arch Pathol 1971, 92, 350-355. Pussell, B.A., Charlesworth, J.A., Macdonald, G.J., de Baker, C.W. The nail patella-syndrome - a report of a family. Aust NZJ Med 1977, 7, 20-23.

11.

12. 13.

14.

15.

Sabnis, S.G., Antonovych, T.T., Azgy, W.P., Rakowski, T.A., Gandy, D.R., Salcedo, J.R. Nail-patella syndrome. Clin Nephrol 1980, 14, 148-153. Raman, D., Haslock, I. The Nail-patella syndrome - a report of two cases and literature review. Br J Rheumatol 1983, 22, 41-46. McCarty, D.J., Halvetson, P.B., Carrera, G.F., Brewer, B.J., Kozin, F. Milwaukee shoulder: association of microspheroids containing hydroxyapatite crystals, active collagens and neutral protease with rotator cuff defects. 1. Clinical aspects. Arthritis Rheum 1981, 24, 464-473. Dieppe, P.A., Doherty, M., Macfarlane, D.G., Hutton, C.W., Bradfield, J.W., Watt, I. Apatite associated destructive arthritis. Br J Rheumatol 1984, 23, 84-91. Halverson, P.B., McCarty, D.J. Patterns of radiographic abnormalities associated with basic calcium phosphate and calcium pyrophosphate dihydrate crystal deposition in the knee. Ann Rheum Dis 1986, 45, 603-605.

Received : 17 September 1991 ; Revision-accepted : 9 December 1991, Correspondence to: Dr. A.K. BHALLA, Royal National Hospital for Rheumatic Diseases, Upper Borough Walls, Bath BA1 1RL, UK.

Nail-patella syndrome associated with mixed crystal deposition arthropathy.

This report describes a case of nail-patella syndrome in a woman with a strong family history who presented with effusions in her shoulder and knees. ...
399KB Sizes 0 Downloads 0 Views