Chapter 8 Joints Alessandro Castriota-Scanderbeg, M.D. Joints develop secondarily in the mesenchyme com- Joint Contracture, Joint Stiffness prised between the developing ends of two adjacent bones (mesenchymal interpose) at about 5 1/2 weeks. ᭤ [Limitation (loss) of (active and passive) The mesenchyme is converted to form fibrous tissue, joint motion] hyaline cartilage, or fibrocartilage, depending on whether the developing joint is a fibrous joint, a syn- The issue discussed in the current section encom- chondrosis, or a symphysis, respectively.At the site of passes a heterogeneous group of conditions, both in- a synovial joint, while the primitive mesenchyme of herited and acquired, isolated and associated with the interzone undergoes liquefaction and cavitation, syndromic and nonsyndromic malformation spec- giving rise to the articular cavity, its peripheral con- tra, localized to one joint and generalized. An intro- densation results in formation of the joint capsule duction to the contractural abnormalities developing (Resnick et al.1995).This process is completed by ap- after birth is first provided, followed by a discussion proximately 7 weeks of fetal age, and by 8 weeks of the congenital forms, which represent the main fo- movements of the limbs about the joint are appear- cus of the section. ing. Motion is essential for the normal development Flexion contracture and joint stiffness may occur of joints and contiguous structures. As discussed in as late manifestations of conditions causing joint more detail in the following pages, congenital limita- and/or surrounding tissue infiltration (sarcoidosis, tion or loss of joint function may be caused by factors amyloidosis), hemorrhage (trauma, hemophilia), or that either are intrinsic to the joint, or are extrinsic inflammation (rheumatoid arthritis, systemic lupus but inhibit fetal movements. erythematosus, dermatomyositis, scleroderma, gout, calcium pyrophosphate dihydrate crystal deposition disease, eosinophilic fasciitis) (Waugh et al. 1980; Reference Kane-Wanger et al.1992). Induration and sclerosis of the tendons and ligaments, subcutaneous tissue, and Resnick D, Manolagas SC, Niwayama G, Fallon MD. Histogene- muscles of a given joint may all be responsible for sis, anatomy, and physiology of bone. In: Resnick D (ed.) loss of the full range of joint motion. Joint contrac- Diagnosis of bone and joint disorders.W.B. Saunders Com- pany, Philadelphia, 1995 (3rd ed.), pp. 609–51 ture can also follow electrical or thermal burns, pro- longed immobilization (Woo et al. 1975), or end- stage degenerative arthropathy. In amyloidosis,joint Abnormalities of Joint Motion contracture may be related to articular and periartic- ular amyloid deposition, muscle or nerve involve- The articular abnormalities discussed in this section ment, or a combination of factors. Every joint can be may occur in association with a great variety of condi- affected, including those in the fingers (Bussiere et al. tions and therefore remain totally nonspecific in many 1976). Several patterns of joint involvement, often cases.Nevertheless,even if the specific diagnosis cannot followed by flexion contracture, may occur in pa- be determined, a systematic approach to these defects tients with diabetes mellitus, including periarthritis may help to identify broad categories of disorders, to (stiff shoulder due to capsular fibrosis and thicken- rule out certain diseases, and to provide insight into the ing) (Bridgman 1972), cheiroarthropathy (contrac- anatomical status of individual joints in the body. tures at the proximal interphalangeal joints, less This section summarizes the most relevant clini- commonly at other sites, in the absence of palmar cal and radiographic patterns of joint involvement, fascial thickening, tentatively attributed to connec- offering existing knowledge of the mechanisms lying tive tissue abnormalities, vascular changes, neuropa- behind the altered joint function whenever possible. thy, and myopathy) (Choulot et al. 1980), Dupuytren’s 474 Chapter 8 · Joints b c a d Fig. 8.1 a–d. Progressive pseudorheumatoid arthropathy. a In and interphalangeal joints, and flexion contractures of the fin- a 13-year-old girl. Note fixed flexion deformity of the knees, gers. There is also diffuse osteoporosis. c Observe severe hips, elbows and fingers. b–d In a 17-year-old boy. b There is platyspondyly, irregular end-plates, and anterior vertebral enlargement of the proximal and distal ends of phalanges, beaking. d Note premature osteoarthritis, deformed femoral joint space narrowing in the carpal, metacarpo-phalangeal, capital epiphyses, and coxa vara. (From Kaibara et al. 1983) contracture (interphalangeal joint contracture of the 8 years with waddling gait, muscle weakness, and 4th and 5th fingers due to thickening of the palmar painful swelling of multiple joints, particularly in the fascia) (Noble et al. 1984), and flexor tenosynovitis hands. Initial symptoms, i.e., morning stiffness and (interphalangeal joint contracture due to a constrict- decreased mobility of the cervical spine, suggest ed flexor tendon sheath). Multiple joint stiffness and rheumatoid arthritis, but synovitis is absent, the sed- large-joint contractures are manifestations of the imentation rate is within normal range, and rheuma- autosomal recessive progressive pseudorheumatoid toid factor tests are negative. Moreover, soft tissues arthropathy (OMIM 208230), a rare skeletal dysplasia around the joints are not involved, and swelling of with progressive arthropathy mimicking rheumatoid the finger joints is caused by osseous expansion of arthritis (Wynne-Davies 1982; Adak et al. 1998). The the ends of the phalanges. Arthropathy is character- disease generally manifests between the ages of 3 and istically progressive, and affected patients become Abnormalities of Joint Motion 475 crippled because of multiple joint contractures, with fixed flexion deformity of the hips, knees, and el- bows. Roentgenographic changes include general- ized osteoporosis; bulbous enlargement of both ends of the phalanges in the hands; platyspondyly, Scheuermann-like lesions, and kyphoscoliosis in the spine; long bone epiphyseal dysplasia with prema- ture osteoarthritis; and multiple flexion deformities (Fig. 8.1a–d). Universal platyspondyly results in short stature. The head and face are normal (Kaibara et al. 1983; Spranger et al. 1983). Spondylo-epiphyseal dysplasia (Stanescu type) shares several clinical and radiographic features with progressive pseudorheu- matoid dysplasia, including multiple joint swelling and stiffness, progressive joint contractures, platy- spondyly, bulbous widening of the phalanges, and premature osteoarthritis (Fig. 8.2a,b). However, nor- mal height, coxa valga, lack of vertebral tonguing, and autosomal dominant inheritance unambiguously identify patients with Stanescu type of dysplasia (Nishimura et al. 1998). Paradoxical joint stiffness may occur in conditions with joint laxity, such as Ehlers-Danlos syndrome, Marfan syndrome,and ho- mocystinuria. In these disorders, ligamentous laxity and recurrent dislocations lead to precocious os- teoarthritis (during the 3rd or 4th decade of life) and, possibly, to flexion joint contracture. Commonly in- volved joints are the hands, knees, and shoulders (Lewkonia and Pope 1985; Beighton and Horan 1969). Another potential mechanism is persistent joint effu- sion and hemarthrosis from repetitive subclinical trauma, again caused by ligamentous and capsular a laxity (Osborn et al. 1981). It is of interest for the dif- ferential diagnosis that joint contracture occurs only in the 5th digits of the hands in Marfan syndrome, whereas it occurs in multiple digits, the elbows, and the knees in homocystinuria (Brenton et al. 1972). Congenital joint contractures may be divided in two broad groups,depending on whether the ultimate cause is intrinsic or extrinsic to the developing fetus (Jones 1997). Intrinsic factors include neurological abnormalities, such as anencephaly, microcephaly, hydranencephaly, unilateral cerebral hypoplasia, holoprosencephaly, meningomyelocele, anterior mo- tor horn cell degeneration, aberrant myelin forma- b tion, and several others (Hageman et al. 1985, 1988, Fig. 8.2 a,b. Spondyloepiphyseal dysplasia, Stanescu type in the 1994; Gorgen-Pauly et al. 1999; Borochowitz et al. 14-year-old boy whose case is illustrated in Fig. 4.32. a Note rela- 1991; Kobayashi et al. 1995; Novotniy 1998); muscle tively short trunk, flexion contracture of knees, hips, and elbows, abnormalities, such as fetal myopathies, myotonic and genu valgum. The boy’s height is normal. b Note bulbous ex- dystrophy (Steinert syndrome), myotonic chondro- pansion of both ends of the phalanges with megaepiphyses, flex- dystrophy (Schwartz-Jampel syndrome), and muscle ion of distal interphalangeal joints, and premature osteoarthri- tis. These changes are indistinguishable from those of progres- agenesis (Jobsis et al. 1999; Hageman et al. 1986; sive pseudorheumatoid dysplasia. (From Nishimura et al. 1998) Wieacker et al. 1985); and joint and/or contiguous tis- 476 Chapter 8 · Joints births, and can be seen in isolation or in association with other abnormalities. Over 150 syndromic and nonsyndromic conditions manifest with multiple congenital joint contractures at birth, and the etiolog- ic and genetic basis of these is very heterogeneous (Hall 1985; Ladda et al. 1993; Froster-Iskenius et al. 1988; Herva et al.1988; Lowry et al.1985).In a study of 350 patients with various kinds of congenital contrac- tures, 135 (38%) were found