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Acta Médica Costarricense
On-line version ISSN 0001-6002Print version ISSN 0001-6012
Acta méd. costarric vol.54 n.2 San José Apr./Jun. 2012
Clinical case
Osteopoikilosis: Report of a
case and review of the current literature.
Orthopedics and Radiology Department, “Rafael Angel Calderón Guardia” Hospital.
Contact information: jcalonso@racsa.co.cr
Abstract
A
19-year-old-male from Guápiles with
history of
congenital torticollis and obstructive urolithiasis was seen in the orthopedic clinic
because of symetrical hyperostic
spots in
both hips and sacroilliac joints detected
incidentally when an intravenous pyelogram
was
performed on the patient. The patient manifested pain in both lower
limbs of
several months’ length. Hip and knee radiographs showed symmetrical
sclerotic bone lesions suggestive of osteopoikilosis.
A bone gammagraphy study showed no
pathological
findings. The possibility of any other associated medical condition was
ruled
out. Osteopoikilosis requires no medical
treatment.
Keywords:
osteopoikilosis, displasia,
osteosclerosis
Osteopoikilosis,
or spotted bone disease, belongs to a group of rare clinical entities
known as sclerosing bone dysplasias.1This
entity is acortical bone ectopiainspongy
bone. It is characterized by the presence of hyperostosis foci at any
point in
the skeleton, predominantly in the metaphysis
and
epiphysis of long bones, as well as in the carpal and tarsal bones.2
Although
it is a benign bone condition, it has been described as associated with
other
connective tissue disorders, such as the Buschke-Ollendorf
Syndrome, which may cause more serious medical problems.3
The
description of the first case dates back to 1915. Since then, most
world wide
reports correspond to isolated cases, probably because family
transmitted osteopoikilosis is unusual.2,4
According to the literature reviewed, this is the first osteopoikilosis case described in
Case
report
A 19-year
old male, farmer, from Guápiles, with a
history of congenital torticollis
diagnosed at 5
years of age and with recurrent obstructive urolithiasis
diagnosed five months ago. He is referred to the Orthopedics Department
of the
Rafael Angel Calderón Guardia Hospital
because
of the incidental finding in an intravenous pyelogram
study of symmetrical hyperostic spots in
both hips
and sacroiliac joints.The patient
complaints of
occasional pain in both lower limbs, mild, ill-defined,
non-progressive,
usually in the morning that has developed for several months and
reports no
other symptoms of the musculoskeletal system.
There is
no history of alcohol consumption, smoking, consumption of other drugs,
allergies or family history.
The
patient undergoes a series of x-rays, which evidence scleroticlesions;
symmetrical, disc shaped, smaller than
Discussion
The
multifocal sclerotic bone lesions may be the result of multiple
etiologic
factors, with which a differential diagnosis must be made. Among the
factors
described are osteoblastic metastases,
vascular
disorders, congenital disorders, infections, traumas and endocrine
disorders.
Usually
the patient presents a number of symptoms and some other findings that
contribute to the diagnosis.5
In the
case studied, there are vague symptoms and very rare radiological
findings,
which suggest a congenital cause, specifically, osteopoikilosis.
This
entity has a dominant autosomal
transmission and
corresponds to an alteration in the maturation of the endochondral
bone, which in most cases is detected between twenty and thirty years
of age.1-3
As in this case, the detection of osteopoikilosis
tends to be accidental, when a radiologic study is requested for some
other
reason and it evidences the characteristic bone lesions.5
Regarding
the radiological findings, it is said that the characteristic lesions
persist
for life. According to a study of four families, among the preferred
sites and
with periarticular distribution, the
following stand
out: phalanges (100%), carpal bones (97.4%), metacarpals (92.5%), feet
phalanges (87.2%), metatarsals (84.4%), tarsal bones (84.6%), pelvis
(74.4%),
femur (74.4%), radius (66.7%), ulna (66.7%), sacrum (58.9%), humerus (28.2%), tibia (20.5%) and fibula (2.8%).6
In the Costarican case, the patient presents small
sclerosis foci
of various sizes, disc shaped, symmetrical and well defined; that do
not alter
the cortical or bone shape. Usually, to differentiate between a
metastasis and
an osteopoikilosis-type bone dysplasia of periarticular distribution, a whole body bone
scan study is
performed. In this case, it ruled out a possible metastasis. It should
be noted
that the differentiation through a whole body bone scan is not
absolute. There
are case reports of osteopoikilosis that
describe the
detection of pathological bone findings by means of a whole body bone
scan.7
Osteopoikilosis
is considered a benign bone condition that does not require any
treatment or
intervention. However, the association of the osteopoikilosis
family with other disorders that may require medical attention has been
described; such as scleroderma, endocrine diseases, rheumatoid
arthritis, syndactyly and cleft palate. Osteopoikilosis
has also been associated with the Buscke-Ollendorff
syndrome, as already mentioned, and with the Klippel-Feilsyndrome.2,3
In this
case, the mentioned conditions have been ruled out. However, the
concomitant
presence of congenital torticollis and
recurrent
obstructive urolithiasis draws our
attention, since
the literature reviewed does not report any case that associates either
of
these two entities with the osteopoikilosis.
Figure 1
References
1. Greenspam A. Sclerosing bone displasias a target-site approach. Skeletal Radiol 1991; 20: 561-583. [ Links ]
2. Baasanjav S, Jamsheer A, Kolanczyk M, Horn D, Latos T, Hoffman K et al. Osteopoikilosis and multiple exostoses caused by novel mutations in LEMD3 and EXT1 genes respectively - coincidence within one family BMC BMC Med Genet 2010; 11:110-117. [ Links ]
3. Ruiz-Fernández M, León-García F, Ruiz-González A, Rodríguez- Palmero M. Osteopatía condensante diseminada: definición y actitud. BSCP Can Ped 2003; 27: 401-405. [ Links ]
4. Sutherland C. Osteopoikilosis. Radiology 1935; 25: 470-479. [ Links ]
5. Sclerotic Lesions of Bone. Department of Radiology University of Washington, 2008. En http://www.rad.washington.edu/academics/academic-sections/msk/teaching-materials/online-musculoskeletal-radiology-book/sclerotic-lesions-of-bone. [ Links ]
6. Khot R, Sikarwar J, Gupta R, Sharma G. Osteopoikilosis: A case report. Ind J Radiol Imag 2005; 15: 453-454. [ Links ]
7. Serdaroglu M, Capkin E, Uçuencue F, Tosun M. Case report of a patient with osteopoikilosis. Rheumatol Int 2007; 27: 683-686. [ Links ]