896
THE PATHOLOGY OF THE INVOLVED TENDONS IN
PATIENTS WITH FAMILIAL ARTHROPATHY AND
CONGENITAL CAMPTODACTYLY
TAKAHIRO OCHI, ROKURO IWASE, NORIKAZU OKABE, CHESTER W. FINK, and KEIRO O N 0
In 2 sisters with congenital camptodactyly and
joint effusions, abnormalities in tendons were restricted
to the portion within synovial sheaths. This implied a
disease of the tenosynovium, rather than one of the
tendon itself. In areas of chronic involvement, some
tendons were replaced by fibrous tissue. Significant
portions of the tendons in fingers with camptodactyly
were replaced by bard scars. Congenital carnptodactyly
is probably the result of an intrauterine tenosynovitis,
rather than an isolated congenital anomaly.
In 1965 Jacobs and Downey (1) first described 2
families in which the members had flexion contrac-
tures of fingers, beginning soon after birth and associ-
ated with arthropathy. They called the condition con-
genital familial hypertrophic synovitis. Athreya and
Schumacher (2) reported a third family in 1978. All
patients had normal routine laboratory results. The
synovial tissue of all the affected joints had similar
histopathologic changes, with hypertrophic avascular
From the Department of Orthopedic Surgery, Osaka Uni-
versity School of Medicine, Osaka, Japan and the Department of
Pediatrics, University of Texas Health Science Center at Dallas,
Dallas, Texas.
Takahiro Ochi, MD: Assistant Professor, Department of
Orthopedics, Osaka University School of Medicine; Rokuro Iwase,
MD: Assistant Professor, Department of Orthopedics, Osaka Uni-
versity School of Medicine; Norikazu Okabe, MD: Assistant Profes-
sor of Orthopedics, Osaka University School of Medicine; Chester
W.Fink, MD: Professor of Pediatrics, University of Texas Health
Science Center at Dallas; Keiro Ono, MD: Professor and Chairman,
Department of Orthopedics, Osaka University School of Medicine.
Address reprint requests to Dr. Takahiro Ochi, Department
of Orthopedic Surgery, Osaka University School of Medicine, 1-1-
50 Fukushima, Fukushima-ku, Osaka 553, Japan.
Submitted for publication June 16, 1982; accepted in re-
vised form January 12, 1983.
Arthritis and Rheumatism, Vol. 26, No. 7 (July 1983)
villi, giant cells, and an absence of inflammatory
infiltrate.
In 1978 2 sisters with this disease were referred
to us, and we have followed them for more than 3
years. To maintain range of motion of their affected
joints, we have performed several tenosynovectomies
and tenolyses of the hands and synovectomy of the
affected knee joints. The pathologic findings in the
tissues from the knees were almost identical to those
reported by Athreya and Schumacher (2). The tendons
and synovial sheaths of affected hands and feet had
characteristic pathologic findings which have not been
described in detail previously.
CASE REPORTS
The 2 sisters were born in Osakq, Japan. There
was no history of consanguinity or unusual genetic
conditions in either parent. MM was born August 2,
1969 with a flexion deformity of bath middle fingers.
When she was 1 year of age, an attempt was made to
release the flexion contractures, but was unsuccessful.
When she was 5 years old, painless swelling was noted
in both hands; at 6 years of age, similar swelling was
found in the knees and feet. The swelling persisted,
but she walked 30 minutes each day to school, and
played without difficulty. She was first seen by us
August 2, 1978, when she was 9 years old. She had 40"
flexion deformities of both third proximal interphalan-
gea] (PIP)joints, without evidence of synovial thicken-
ing or inflammation. Thickened synovium was palpa-
ble in the extensor tendons of both hands, the peroneal
tendons of both feet, and in both knee joints. Clear,
straw-colored joint fluid, which had normal viscosity,
a normal mucin clot, and no crystals under compensat-
CONGENITAL FAMILIAL SYNOVITIS 897

ed polarized light, was aspirated from both knees. The of the right index, middle, and ring fingers and left
white cell count from each knee was 400/mm3. index and middle fingers were performed. The flexion
Laboratory findings included: hemoglobin 11.9 contractures of both middle fingers persisted. When
gm%, hematocrit 33.8%, total white blood cell count swelling and crepitus of the flexor synovial sheaths of
8,600/mm3 with a normal differential, erythrocyte sedi- the right index finger and right peroneal synovial
mentation rate 3 mm/hour, normal urinalysis results, sheath recurred, tenosynovectomies were again per-
negative latex fixation and antinuclear factor, and formed. In December 1981, she had hydrarthroses of
normal immunoglobulins. Roentgenograms showed a both knee joints, but no other significant swelling.
flexion deformity of the PIP joints of both middle Only the PIP joints of both middle fingers had flexion
fingers, but no erosions or other abnormalities of any contractures.
joint were seen. For analysis purposes, synovium removed dur-
Daily activities were curtailed, but tenosynovi- ing each sister’s surgery was fixed in 10% buffered
tis of the hands and feet and hydrarthroses of both formalin, embedded in paraffin, sectioned at 5p inter-
knee joints persisted. On October 12 and November 2, vals, and stained with Ehrlich’s hematoxylin and eosin
1978, tenosynovectomies of the common extensor (4).
tendon sheaths of both hands and the peroneal tendon
sheaths of both feet were performed, as were synovec- RESULTS
tomies of both knees, intercarpal joints, and radiocar-
pal joints. The findings were quite similar in both knee
joints of MM at the time of surgery. The synovium was
After the operations, the swelling of the hands,
hyperemic and synovial hypertrophy was moderate.
knees, and feet subsided. In February 1979, hydrar-
throsis of the left knee joint recurred, but this subsided
The cartilage of the medial condyle of the femur was
invaded by vascular granulation tissue, which was
after a chemical synovectomy with osmic acid (3). In
macroscopically similar to that seen in juvenile arthri-
December 1981, at the time of this study, she had no
tis (JA). Similar changes were also seen in the cartilage
significant swelling and no contractures except those
of the right carpal scaphoid. In the synovial tissue
of the PIP joints of both middle fingers.
from the knees, hypertrophy and hyperplasia of the
The younger sister, KM, was born May 28,
synovial lining cells and proliferation of vascular tissue
1971, also with flexion deformities of both middle
were similar to that seen in rheumatoid arthritis (RA)
fingers. When she was 6 months old, releases of the
flexion contractures of both middle fingers were at- ( 5 ) . But in contrast to RA, the inflammatory cell
infiltration was sparse and no evidence of vasculitis
tempted, but the contractures persisted. When she
was 2 years of age, painless swelling of knee joints and was seen. Multinucleated giant cells with central nu-
hands developed. In October 1978, at age 7 years, she
was first seen by us.
On examination, she had flexion deformities of
the PIPS of both middle fingers, similar to those of her
sister. Synovial thickening was palpable in the com-
mon extensor tendon sheath of both hands, in the
flexor tendon sheaths of the right index, middle, and
ring fingers, and in the left index and middle fingers.
Swelling was also found in the peroneal and anterior
tibial tendon sheaths of both feet and in both knee
joints. Joint fluid from both knees was normal.
Results of laboratory investigations and roent-
genograms were almost identical to those of her sister.
Swelling persisted, but was minimal, in the knees and
right hand. In March 1979, tenosynovectomies were
performed on the common extensor sheaths of the left
hand and the peroneal and anterior tibial sheaths of Figure 1. Histologic findings in the synovial tissue of the knee joints
both feet. Flexor tenosynovitis of the fingers of both of patient I (MM).Arrowheads show the multinucleated eiant cells.
hands worsened, and tenolysis and tenosynovectomy J indicates the joint cavity (original magnification x 400;
898 OCHI ET AL

don, which was edematous and where cellular nuclei

were very sparse. This appeared to be the initial step
of degeneration. Only a small number of chronic
inflammatory cells were found in the subsynovial
connective tissue. These histopathologic changes were
quite different from those in JA (5) and were found
adjacent to normal tendon.
In regions of more advanced disease, the adhe-
sions of synovial sheaths to tendons were very tight
and difficult to lyse. A large amount of fibrous tissue
was seen, microscopically, within normal tendon (Fig-
ure 4).
The tendons involved in KM’s congenital
camptodactyly , the flexor digitorum superficialis and
the flexor digitorum profundus, showed tight contrac-
Figure 2. Operative findings in the extensor tendon of the right hand tures within the tenosynovial sheaths, and were re-
of patient 1 (MM). The retinacular ligament is removed. A indicates placed by hard scar tissue. They were inseparable
the tendon outside of the synovial sheath of the extensor digitorum from each other and tightly adherent to the periosteum
communis, with no significant pathologic changes. B indicates the of the proximal phalanx. Range of motion of the PIP
synovial sheath, with marked hypertrophy. Arrowheads mark the
borders of the synovial sheaths.
joints of both middle fingers was not restored by the
surgery. Microscopically (Figure 3,there was marked
clei were noted beneath the lining layer (Figure 1). fibrosis within the tendons, and the pathology was
This was similar to the findings reported by Athreya fundamentally similar to Figure 4.
and Schumacher (2).
Both sisters had similar changes in tendons and DISCUSSION
synovial sheaths of the hands and feet. Figure 2 shows
Both patients had persistent swelling of the
the dorsal aspect of MM’s right wrist, with the retinac- hands, knees, and feet and varying degrees of stiffness
ular ligaments already opened. Outside the synovial
sheaths, the extensor tendons showed no significant
pathologic changes. Abnormalities in the tendons were
only seen within the tenosynovial sheaths. Synovial
sheaths showed marked hypertrophy, and the tendons
inside the sheaths were edematous and had lost their
specific luster and elasticity. Tendons were invaded by
tenosynovial granulation tissue, and there were signifi-
cant adhesions between the tendons and synovial
sheaths. In some tendons the adhesions were loose
and easy to lyse, but elsewhere they were tight and
lysis was difficult. Several synovial chondromas were
found within synovial sheaths. Similar differences
were seen on the flexor side of KM’s right hand
between the palm, where the tendon was not covered
with tenosynovium, zone I11 ( 6 ) , and the middle and
proximal phalanges of the middle finger, zone I1 (6),
where the tendon was covered with tenosynovium.
Significant pathologic changes were restricted to with-
in tenosynovial sheaths.
Figure 3 shows the histology of the flexor
tendon tissue of KM’s right index finger, typical of the Figure 3. Histologic findings in the flexor tendon of the index finger
of patient 2 (KM).A indicates normal tendon. B indicates the
early pathologic changes. Hypertrophic avascular ten- edematous and degenerative tendon, with villi invading. Marked
osynovial villi, some of which were necrotic, were hypertrophy of the tenosynovium (S) and necrotic villi (N) arc seen
frequent. Some villi were invading the adjacent ten- (original magnification X 40).
CONGENITAL FAMILIAL SYNOVITIS 899

likely that the camptodactyly of the middle fingers is

the final stage of the tenosynovitis seen in the other
synovial sheaths. Patients with isolated congenital
camptodactyly (7) have a completely different pattern
of finger involvement, frequently have other congeni-
tal anomalies, and the pathogenesis is believed to be
due to osteoarticular and soft tissue changes not found
in our patients. Fibrosis was the predominant patho-
logic feature in our patients. This would imply that
camptodactyly is the end result of intrauterine teno-
synovitis, and not an isolated congenital anomaly.
The cause of the pathology found in this disease
is still unknown. In most of the affected areas only
small numbers of chronic inflammatory cells were
seen, but it is still possible that low grade inflammation
had been present previously. The tissues examined did
not show much active inflammation, but were in a
Figure 4. Histologic findings in the flexor digitorum superficialis
scar-forming stage. Recently Malleson et a1 (8) report-
tendon of the right ring finger of KM. Within the normal tendons (T)
is edematous fibrous tissue (F) containing few nuclei. Many small ed a family whose members had arthritis and campto-
blood vessels (V) are seen. Chronic inflammatory cells are infre- dactyly. The only significant differences from our
quent (original magnification x 100). patients were in the histopathologic findings. Malle-
son's patients (8) had edema of the subsynovial tissues
and patchy infiltration by large numbers of lympho-
of fingers for years. From their histories, they were cytes and plasma cells. In multiple sections from
believed to have persistent chronic arthritis and teno- tissues of our patients, we found a few areas that
synovitis. However, synovial fluid was not inflamma- contained a number of mononuclear cells in the inflam-
tory in type, laboratory findings were normal, and matory exudate. It is probable that Malleson's patients
joint roentgenograms showed no erosions or other might represent an earlier and active inflammatory
abnormalities. With the familial incidence, the camp-
todactyly present at birth, and the histologic findings
in the synovial tissues, this disease is thought to be the
same as that reported by Jacobs and Downey (1) and
by Athreya and Schumacher (2), and not to be JA or
RA ( 5 ) .
Athreya and Schumacher described the pathol-
ogy of the synovia in affected joints (2). We have, in
addition, detailed changes in tenosynovia and tendons.
The affected areas of tendons in our patients were
always within tenosynovial sheaths. As shown in
Figure 2, extensor tendons outside of synovial sheaths
appeared and were histologically normal. This restric-
tion of tendon abnormalities to the portion within
synovial sheaths would indicate that the changes de-
rive from a disease of the tenosynovium, rather than
from anything in the tendon itself.
The flexor digitorum tendons of both fingers
with congenital camptodactyly (KM) inside the tendon
sheath were replaced by hard scar tissue, which was
accompanied bv small blood vessels seen microscoti-
Figure 5. Histologic findings in the flexor tendon of the right middle
The pathology (Figure 5 , looked very to finger with congenital camptodactyly (patient 2: KM). Fibrous
that Seen in the Inore advanced tenosynovitis tissue (F) is between strands of tendon (T) (original magnification x
4). The spectrum of histopathologic findings makes it 100).
900
stage of the same disease, while our patients and those
described by the other authors (1,2) are in a later,
postinflammatory stage. The sequence is probably an
early and persistent low grade inflammation followed
by edema and degeneration of tendons, which are later
invaded by fibrous tissues and finally replaced by hard
scar tissue which forms contractures.
Repeated tenosynovectomy and tenolysis of
various affected tendons were performed in MM and
KM. In December 1981, finger range of motion was
within the normal range, except for the middle fingers
with congenital camptodactyly. If the fibrosis and
adhesions are a result of a prior persistent low grade
inflammation originating in the tenosynovia, then
tenosynovectomy and tenolysis might prevent con-
tractures of tendons and preserve motion of the fin-
gers. Hydrarthrosis has persisted in KM’s knee joints,
which did not undergo synovectomy, but has not been
significant in MM’s knees after synovectomy . Syno-
vectomy may thus be indicated, to stop persistent
h y drarthrosis.
A patient similar to those described from Osaka
has been seen in Dallas (Fink CW: unpublished obser-
vations). He also had camptodactyly in several fingers
at birth and developed early synovial effusions in a
number of joints, especially the wrists and knees.
Laboratory findings were normal and joint fluid cell
counts were in the normal range. His case is of
OCHI ET AL
particular interest since there appears to be consan-
guinity in his immediate family.
REFERENCES
1. Jacobs JC, Downey JA: Juvenile rheumatoid aithritis,
The Child with Disabling Illness. Edited by JA Downey,
N L Low. Philadelphia, W.B. Saunders Co., 1974. pp 5-
24
2. Athreya BH, Schumacher HR: Pathologic features of a
familial arthropathy associated with congenital flexion
contractures of fingers. Arthritis Rheum 21:429-437, 1978
3. Nissia M, Isomaki H , Koota K, Larsen A, Raunio K:
Osmic acid in rheumatoid synovitis: a controlled study.
Scand J Rheumatol 6: 158-160, 1977
4. Luna LG: Routine staining procedures, Manual of His-
tologic Staining Methods of Armed Forces Institute of
Pathology. Third edition. New York, McGraw-Hill, 1968,
pp 32-46
5. Gardner DL: The Pathology of Rheumatoid Arthritis.
London, Edward Arnold, 1972, pp 7-38
6. Kleinert HE, Kutz JE, Cohen MJ: Primary repair of zone
2 flexor tendon lacerations, AAOS Symposium on Ten-
don Surgery in the Hand. St. Louis, C.V. Mosby Co.,
1975, pp 91-104
7. Currarino G, Waldman I: Camptodactyly. Am J Roent-
genol 92:1312-1321, 1964
8. Malleson P, Schaller JG, Dega F, Cassidy SB, Pagon RA:
Familial arthritis and camptodactyly. Arthritis Rheum
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