Stickler syndrome (hereditary arthro-ophtha!mopalhy) is a connective tissue disorder manifest by ocular, facial, and musculoskeletal abnormalities. It is more common than Marfan's syndrome.1 Many of the joint problems may be ascribed to irregularities of the articular cartilage secondary to moderate to severe spondyloepiphyseal dysplasia and hyperlaxity of the joint. This report describes the syndrome and a patient who had an unusual intraarticular lipoma of the knee.
A 32-year-old woman had a 3-year history of progressively worsening left knee pain with locking and clicking, especially along the lateral joint line. Her past history was significant for a previous left knee arthrotomy for "loose bodies" in 1978. There was no history of antecedent trauma. She had many retinal problems, was currently under the care of an ophthalmologist, and was being followed for Stickler syndrome. She had no other joint complaints. The patient had difficulties with maintaining venous access sites throughout her life. There was no known family history of similar problems.
The patient was a tall (68"), thin woman with scaphoid facies. She had generalized mild hyperextensibility of her joints and a high arched palate. A II/VI holosystolic heart murmur was auscultated. Examination of her left knee demonstrated a well-healed medial suprapatellar incision from her previous surgery. There was a full symmetric range of motion (O to 135 degrees). There was generalized knee laxity with good endpoints of all of the ligaments. The McMurray maneuver demonstrated a prominent anterolateral bulging with clicking and pain reproduction, No other abnormalities were encountered. Radiographie examination was normal.
Arthroscopic examination of the left knee demonstrated yellowish articular cartilage. There was Grade I chondromalacia of the patellofemoral joint and both the tibial and femoral aspects of the medial compartment. The anterior and posterior cruciate ligaments were intact. Difficulty in entering the lateral joint was encountered because of fat obscuring the joint. Several different portals were utilized, to no avail. A tourniquet was inflated and a lateral arthrotomy was made. There was a large (2.5 x 2.5 x 3 cm) lipoma on a stalk from the fat pad in the joint that was incarcerated through a partial longitudinal tear of the anterolateral meniscus (Fig). Grade III and IV chondromalacia of both the tibial and femoral articular surfaces was noted. A partial tneniscectomy with removal of the lipoma was performed. The final pathology was consistent with a lipoma.
Five days postoperative Iy, she complained of severe leg pain consistent with a deep venous thrombosis. A venogram was performed, which was negative. An uneventful postoperative course ensued. She continues to complain of left knee pain, although less than preoperati vely. She no longer has the locking and clicking.
Stickler described a syndrome which he labeled "hereditary progressive arthroophthalmopathy," consisting of a progressive myopia that resulted in retinal detachment and blindness.2·3 Geneticists have noted similarity to &e Wagner and Marshall syndromes, and these are often combined.4'8 Through observations of several families who have this autosomal dominant disorder (with variable expressivity and almost complete penetrance), three systemic complexes were noted. There is a generalized skeletal complex characterized by slender body habitus, joint hyperextensibility, prominence of large joints, arthropathy, and radiographie changes of mild epiphyseal dysplasia. There is an orofacial symptom complex consisting of a "flat" face, midface or mandibular hypoplasia (micrognathia), posterior cleft palate, the Pierre Robin anomaly, deafness, and abnormal teeth. Finally, there is an ocular symptom complex of myopia, cataracts, retinal degeneration, retinal detachment, and blindness.9
The patients are not unusually tall, as are those with Marfan's syndrome. There is enlargement of the knee, ankle, and wrists at birth. Marked hyperextensibility of the finger, wrist, elbow, and knee joints is noted. The radiographie changes are that of mild to moderately severe epiphyseal dysplasia associated with overtubulation of the long bones. The thoracic vertebrae are frequently flat and anteriorly wedged with irregular endplates. Kyphosis and scoliosis may be present. The epiphyses of the long bones may be flattened or irregularly ossified. The site most usually affected is the capital femoral epiphyses, which often are broad and flat. Beals described a patient with protrusio acetabuli.10 The lateral aspect of the disiai tibial epiphysis is often involved, with less severe deformities noted in the distal femur, proximal tibia, and distal radius. These epiphyseal changes predispose to early arthritic changes in young adults. There does seem, however, to be some primary joint changes consistent with a juvenile arthropathy.9
Figure: Intraarticular lipoma in the lateral joint with a stalk from the fat pad.
The major impact of Stickler syndrome is that it is a cause of blindness in affected families. A condition known as Wagner's vitreoretinal degeneration may be present, which includes myopia, cataracts, an optically empty vitreous cavity, and retinal breaks leading to retinal detachments with poor surgical prognosis.7-11
The probability of the patient with Stickler syndrome having mitral valve prolapse is approximately 60% if the patient has palate, eye, and musculoskeletal abnormalities. '2 Liberfarb and Goldblatt found that only 34.6% of their patients with echocardiogram-proven mitral valve prolapse had the typical auscultatory signs of the click-murmur syndrome.13 An echocardiogram is therefore recommended in those patients suspected of having Stickler syndrome.
The pathogenesis of this syndrome is not well characterized, and its protean manifestations suggest a defect involving relatively undifferentiated mesenchymal cells or in a commonly occurring substance. The variable severity of manifestations may reflect an altered regulatory function rather than the production of an abnormal protein. These are speculations, since no pathologic or biochemical data are available.9 It is suggested that there may be mutations at the pro-I(II) collagen gene locus and active investigation is underway.14
Although there are reports of intraarticular loose bodies in the knee, no other cases of intraarticular lipomas have been described in the literature. The pathology in this case may be attributed to the collagen defect of the meniscus, which permitted incarceration of the fat pad. The gross anatomy of the removed meniscus was normal, although collagen biochemical analysis was not performed.
The differential diagnosis includes Marfan's syndrome, multiple endocrine neoplasia type III, Ehler's-Danlos syndrome type VIA, and congenital contractual arachnodactyly type H.15 Many other syndromes have the "marfanoid" body habitus. Stickler syndrome may be the most common tissue dysplasia in the Midwest and has a relative high frequency in other parts of the United States and Europe. l3 It is far more common than Marfan's syndrome.' The ocular examination is essential to the differential diagnosis. The Stickler syndrome may have been the condition affecting Abraham Lincoln and his son, Tad. Lincoln had a "marfanoid" body build and his youngest son had a cleft palate and was tall and slender.9
The Stickler syndrome should be considered in all cases of inherited myopia with and without retina! detachment, cleft palate, dominantly inherited mild spondyloepiphyseal dyspiasia. dominantly inherited mitral valve prolapse with or without joint laxity, and slender tubular bones.1
In evaluating patients with these signs and symptoms, the orthopedic surgeon should refer them for a careful ophthalmologic examination which should include a study of the peripheral retina and the vitreous, an audiologic evaluation, and a cardiac evaluation including auscultation, electrocardiogram, and echocardiogram. These patients should also be advised to have routine eye examinations so thai their problem can be diagnosed early and prophylactic measures for retinal detachment can be taken. Those patients with mitral valve prolapse should be advised of the need for antibiotic prophylaxis for dental, ear- nose-throat, gastrointestinal, and genitourinary procedures.13 They should be advised not to participate in contact sports if the joint manifestations are moderate to severe. Genetic counseling should be offered and a careful family history should be obtained.
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