CASE REPORT

Melorheostosis
in a 1 2-year-old

child
S Andronikou

B Smith
Department of Paediatric Radiology,

University of Cape of Cape Town and Institute of
Child Hea/th,

Red Cross War MemorIa/ Children's Hosp/ta/,
Rondebosch, Cape Town

Corresponding author
SAndronlkou

Department of Paediatric Radl%gy, Red Cross
War Memoria/ Children's Hosplta/. K/lpfonteln

Roa~Rondebosch. 7700
Tel: (021) 658-5422. Fax: (021) 658-5101.

E-mail: docsav@mweb.co.za

Abstract
Melorheostosis (of Leri
and Joanny) is a rare,
non-genetic sclerotic
dysplatic bone disorder
presenti ng at any age,
usual ly from late
childhood to adulthood.
Its aetiology is unknown.
It affects mainly the long
bones of the upper and
lower limbs, but also the
short bones of the hand
and foot and, rarely, the
axial skeleton. Onset is
usually insidious, with
pai n, deform ity of the
extremity, limb stiffness
and limitation of joint
motion, as well as
thickening and fibrosis
of the overlyi ng ski nand
muscle atrophy being
the common clinical
featu res fou nd on
presentation. In adults
the characteristic
radiographic appearance
consists of irregular
hyperostotic changes of
the cortex, generally on
one side of the bone,
resembling melted wax
dripping down one side
of a candle, from which
melorheostosis derives
its name. This, however,
is not a feature of the

42 SAJOURNAL OF RADIOLOGY. February 2001

radiographic appearance
in children, where the
external cortical margin
retains its regular
outline. Children more
often present with a
discrepancy in limb size
rather than with pain (as
is seen in adults). We
present our case of
melorheostosis in a 12-
year-old child to
highlight the main
clinical and radiological
differences found
between children and
adults.
Keywords
Sclerosis/ bone dysplasia/
cortical hyperostosis/
medullary encroachment
limb asymmetry/ growth
disturbances

Case report
A 12-year-old male presented with

a small left hand. On examination
there was clinodactyly of all the fin-
gers of the left hand. There was stiff-
ness of the wrist and all the metacar-
pophalangeal joints, with restricted
range of movement both in flexion
and extension. The overlying skin was
indurated and the first web space was
tight. The patient was tender to pal-
pation over the wrist joint and the
third carpometacarpal joint.

Plain films of both hands and the
left forearm were done. The right
hand was normal. All the left carpal
bones were smaller and diffusely scle-
rotic compared with the right side.
The left hand was globally smaller
than the right (Figure 1). There was
cortical sclerosis with thickening ex-
tending into the medullary cavities of
all five metacarpals as well as of the
proximal phalanx of the thumb. The
phalanges of the left middle and ring

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Melorheostosis in a
12-year-olcJ eh i Id

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Figure 1: The right hand is normal. The left hand is globally smaller, with diffuse sclerosIs of the carpal
bones. The first web space on the left is smaller than on the right.

fingers showed diffuse sclerosis.There
was also expansion and loss of
tubulation in two of the metacarpals
involved and in all components of the
ring finger. The cortical margin, how-

Figure 2: There is cortical sclerosis with
thickening extending into the medullary cavities
of all five metacarpals as well es in the proximal
phalanx of the thumb. The phalanges of the left
middle and ring fingers showed diffuse sclerosis.
There Is expansion and loss of tubulation in two
of the metacarpals involved and in the
components of the ring finger. The cortical
margins retain their regular outline.

ever, retained a regular outline
throughout (Figure 2). Both the left
radius and ulna showed cortical thick-
ening in the diaphyseal region. The
ulna was affected to a greater degree,
with both anterior and posterior cor-

The diagnosis of melorheostosis
was made radiologically on the basis
of a mulnfocal unilateral sclerotic
bone disease with retarded growth as-
sociated with the positive clinical fea-
tures of a small limb, tenderness, joint
stiffness with limited range of move-
ment and overlying skin changes.

Discussion
Melorheostosis of Leri and

Joanny, first described in 1922, is a
rare non-genetic slowly progressive
sclerosing skeletal dysplasia that usu-
ally presents late in childhood and
affects the sexes equally. Common
clinical manifestations include bone
pain (encountered more in adults),
joint stiffness, asymmetry oflimb size
and skin and soft tissue lesions. The
asymmetry of limb size was the pre-
senting feature in our patient. The
bone pain is in contrast to other bone
dysplasias. It may coexist with
osteopoikolosis and osteopathia

Figure 3: Both the left radius and ulna
showed cortical thickening In the
diaphyseal region, The ulna is affected to
a greater degree, with both anterIor and
posterior cortices showing thickening,
whilst the radIal Involvement is restricted
to the medial aspect. There is extension
into the medullary cavity in both bones,
but the external cortical margin was
largely undisturbed,

tices showing thickening. The radial
involvement was restricted to the
medial cortical aspect. There was en-
croachment on the medullary cavity
in both bones, but the external cortical
margin was not disturbed (Figure 3).

43 SA JOURNAL OF RADIOLOGY· February 2001

striata as well as with tumours or mal-
formations of blood vessels or
lymphatics. Up to 1994,320 cases had
been reported.

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Melorheostosis in a
12-year-old child

frompage43

Radiological features include
mono- or polyostotic limb involve-
ment (including hands, feet, shoulder
girdle and pelvis). The tubular bones
of the lower limbs are the sites of pre-
dilection. Less commonly the axial
skeleton is involved. The abnormal-
ity is usually limited to a single bone
or limb and sometimes may skip a
segment. Even when the disorder is
seen bilaterally, the abnormalities are
never symmetrical. Linear cortical
hyperostosis following the long axis
of the bones is seen with extension
into the medullary cavity.This is a pre-
dominant feature in our patient. Usu-
ally only one side of the bone is af-
fected, as is seen in the left radius of

our patient. Sclerosis may be com-
plete in the carpal and tarsal bones,
as was the case in the carpal bones of
our patient. The epiphyseal growth
plate may close prematurely, result-
ing in growth discrepancies. This is
clearly demonstrated in our case,where
all the bones of the left wrist and hand
were smaller than those on the right.

It is important to note that the
"flowing wax" appearance seen in
adults, when the linear density extends
beyond the cortex as multiple perio-
steal outgrowths, is not a feature in
children. In childhood the hyperosto-
sis does not extend beyond the bounda-
ries of the cortex and the external con-
tours of the bone are undisturbed.

Conclusion
The above features are so distinc-

tive that the unilateral endosteal scle-
rosis (even when the "flowingwax" ap-
pearance is not present in children) is
virtually diagnostic of melorheostosis.

References
1. Beighton P, Cremin BJ. Sclerosing bone

dysplasias. Berlin, Heidelberg: Springer-
Verlag. 1980: 143-148.

2. Greenspan A. Scoliosis and anomalies with
general effect on the skeleton. In:
Orthopaedic radiology - a practical
approach. 3rd ed. Philadelphia: Lippincott
Williams & Wilkins. 2000: 921-922.

3. Kozlowski K, Beighton P. Gamut index of
skeletal dysplasias. Berlin, Heidelberg:
Springer-Verlag. 1984: 134.

4. Rubin P. Dynamic classification of bone
dysplasias. Chicago: Year Book Medical
Publishers. 1964: 391.

and radiological features. Dynamic multi-phase CT scan-
ning has revolutionised lesion characterisation and is cur-
rently the modality of choice for imaging hepatic masses.
Consideration of imaging characteristics in conjunction
with clinical and laboratory data allows the formulation
of a focused differential diagnosis.

Acknowledgements
We would like to thank the CT staff for their assist-

ance in collecting and sorting films.

References
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Evidence of infection
Patients with CHD are more susceptible to lower respi-

ratory tract infections. It is vitally important that any report
on a chest X-ray of a child with CHD mentions the presence
or absence of features of infection. Often a lower respiratory
tract infection leads to decompensation and admission to hos-
pital. Infection may be acute or chronic and in the South
African context features of tuberculosis must be excluded.

Conclusion
With the above approach, the radiologist will hopefully

be able to offer useful reports to the clinicians managing pa-
tients and thus play an integral role in the multidisciplinary
management of patients with congenital heart disease.

References
1. Crowley JJ. Telltale signs of congenital heart disease. The RadiologicalClinics

of North Amenca, 1993; 31: 573-582.
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and imaging. 3'd ed. London: Churchill Livingstone.l980: 529-594.
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Allison DJ (eds). Diagnostic radiology:A textbook of radiologyand imaging. 3,d
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44 SA JOURNAL OF RADIOLOGY. February 2001