ARTICLE
Case report
A twelve-year-old girl came to the Coimbra University Hospital for outpatient
dermatological evaluation.
The physical examination at that time revealed a flexion deformity at
the proximal, interphalangeal joint in the third, fourth and fifth fingers
of the left hand, and in all the right digits, except the first. She also
had a certain degree of flexion at the distal, interphalangeal joint of
the left little finger (Fig. 1).
The toes also exhibited the same deformity,
bilaterally, at the proximal, interphalangeal joint of the second, third
and fifth left toes, and in all the toes, except in the first, of the
right foot; the second one was the most severely affected by the flexion
deformity.
These changes began at the age of four, apparently in a spontaneous
fashion; the first digit to be affected was the little finger of the right
hand. There was no pain and these changes had evolved only slowly.
The remaining physical examination was normal. There were no other lesions
of the hands and feet i.e. no cutaneous nodules, plantar or palmar
bands; there was no indication of Raynaud's phenomenon or sclerodactyly,
and the metacarpal-phalangeal joint was spared. We could not see any facial
or cranial anomalies. Nevertheless, our patient had pectus excavatum.
The remaining evaluation showed a normal complete
blood count and no immunologic abnormalities (immunoglobulins; antibodies
anti-smooth muscle, anti-mitochondrial, anti-nuclear, anti-double stranded
DNA, anti-centromere and anti-Scl 70). Indications for lupus erythematosus
and rheumatic factor were negative. The echocardiogram was normal. X-ray
examination of the feet and hands showed internal luxation with flexion
deformity of the proximal, interphalangeal joints of the four last fingers
of the right hand and of the third, fourth and fifth fingers of the left
hand; there was also flexion deformity at the distal, interphalangeal
joint of the fifth finger of the left hand. There were also flexion deformities
of the proximal, interphalangeal joints of the second, third and fifth
left toes and in the four last right toes; there was no cortical thinning,
changes in the bone density, or changes at the joint spaces or soft tissues.
The propositus' urinary amino acid chromatogram was normal, namely the
urinary taurine pattern. The dermatopathology was normal over the joints
affected, as well as in the thigh; moreover, there were no changes with
the Verhoeff coloration. Muscle biopsy revealed no changes.
On investigation of the patient's relatives (Fig.
2), we found that she had a six-year-old sister that, also at
the age of four, had begun to display similar changes: painless flexion
deformity at the proximal, interphalangeal joint of the right little finger,
there currently being involvement of the fourth right finger and of the
fifth, left, proximal, interphalangeal joint (Fig.
3). She also had pectus excavatum. The remaining physical examination
was normal.
The father had also had a flexion deformity of the proximal, interphalangeal
joint of the fifth fingers since childhood. The paternal grandmother and
some of the father's sisters also had the same pathology involving the
same joint of the fifth right finger, and also with a spontaneous onset.
Discussion
Camptodactyly, first recognised by Landouzy, is a flexion deformity
of the proximal, interphalangeal joint of one or more digits. In spite
of the fact that the fifth finger is usually more often affected, camptodactyly
can involve the other digits.
Classically, there are two clinical presentations: precocious and a
later one. Precocious camptodactyly, revealed at birth or during the first
year of life, frequently affects both hands, but not necessarily in a
symmetrical way; it can occur in isolation, or can be a part of malformative
syndrome [3].
So, in the context of these findings, it is important not only to exclude
these polymalformative syndromes, but also to differentiate between other
clinical entities that are not as rare and that can have a similar clinical
appearance, particularly scleroderma and Dupuytren's contracture [1, 2,
4, 6-8] (Table I):
a) Systemic sclerosis usually begins with Raynaud's
phenomenon in the digits, followed by sclerodactyly, ulcerations at the
fingertips, nail dystrophy, flexion contractures of the digits and, later,
by sclerosis of the upper extremities [2]. Our patient did not demonstrate
these changes, neither had she any systemic problems. In addition, the
laboratory examinations were normal, in particular the anti-centromere
and anti-Scl 70 antibodies.
In addition, this disease is rarely familial.
b) Dupuytren's contracture is characterised by sclerosis of the median
palmar aponevrosis, leading to flexion of the little fingers, but patients
with this disorder also have nodules and fibrous bands; we could not find
these changes in our patient. In addition, in this pathology there is
involvement of the metacarpal-phalangeal joint and it is rare in children
and females [1, 4].
c) Camptodactyly is also part of the spectrum of autosomal dominant
diseases, namely Marfan's syndrome, cranio-carpo-tarsal dystrophy and
oculo-dento-digital dysplasia. It may also occur in conjunction with anomalies
such as high arched palate, scapula anomalies, scoliosis, ptosis, hemi-hypertrophy
and taurinuria [6]. Pectus excavatum, seen in our patient and in her sister,
could be a constitutional variant [1, 5, 8].
Treatment in our patient consisted of static and dynamic orthosis. The
dynamic orthosis lasted for about twenty months, all night and for several
hours each day, and gave good results (an increase in extension of 40°).
Those cases that prove resistant to this treatment modality or those
who have a flexion deformity of more than 60° may benefit from surgical
treatment [3].
As we could find no other anomaly, we diagnosed this case as one of
isolated and familial camptodactyly (autosomal dominant trait), similar
to those cases of Welch and Temtany [8], and Schallreuter and Reimlinger
[7].
REFERENCES
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Méd Chir Dermatologie Paris, Éditions Techniques, 1994.
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8. Welch JP, Temtany SA. Hereditary contractures of the fingers (camptodactyly).
J Med Genet 1966; 3: 104-7.
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