Original article

The literature review of Ollier disease

Witchuree Wejjakul, M.D., Dumnoensun Pruksakorn, M.D.,

Yuddhasert Sirirungruangsarn, M.D., Sirichai Luevitoonvechkij, M.D.,
Songsak Khunsree, M.D., Tanawat Vaseenon, M.D.
Department of Orthopedics, Faculty of Medicine, Chiang Mai University

Ollier disease is a rare disease with an incidence 1:100,000. It is a multiple benign hyaline-cartilag-
inous-forming tumor at metaphysis or extended to diaphysis of bone. This paper reviews the Ollier
disease and its general, pathogenesis, clinical presentations, investigation findings and the treatment
which still has no consensus. Chiang Mai Medical Journal 2013;52(3-4):73-79.
Keywords: Ollier disease, enchondromatosis, multiple enchondromatosis, dyschondroplasia

General of disease Pathogenesis

Enchondroma is a common, benign, hya- The pathogenesis of Ollier disease is unknown,
line-cartilage-forming tumor in the medulla of but the irregular distribution of the lesions strong-
the bone, occurs at metaphysis or extended to ly suggests that it occurs from early post-zygotic
diaphysis, and usually a single lesion. When genetic events [2,3] and is a mosaic condition
there are multiple enchondromas, the term en- because of its non-hereditary and unilateral pre-
chondromatosis is applied. There are 7 subtypes dominant features [3]. The hypothesis of the
of enchondromatosis; the most common subtypes formation of enchondromatosis is the abnor-
are Ollier disease and Maffucci syndrome which malities in signaling pathways controlling the
are distinguished by the presentation of heman- proliferation and differentiation of chondrocytes,
gioma. When enchondromatosis presents with which causes the failure in the enchondral bone
hemangioma, it is named Maffucci syndrome, ossification process. Hopyan et al identified a
without hemangioma is named Ollier disease. mutation of parathyroid hormone-related protein
Ollier disease is also known as dyschondro- (PTHrP) which bound to PTHR1 receptor in
plasia, multiple cartilaginous enchondromatosis enchondromatosis [4]. When the heterozygous
or enchondromatosis Spranger type I. It is a rare mutation of PTHR1; also called R150C, took place,
non-hereditary congenital disease. The incidence enchondromatosis developed [3,5]. However there
is 1:100,000 but can be higher because of the are some reports demonstrated that the mutant
under-detection of the mild phenotypes without PTHR1 was found only 10 percent in patients with
skeletal deformities [1]. There is no difference Ollier disease [15,22], and the decreasing func-
between male and female. tion of the receptor is approximated 70 percent.

Address correspondence to: Witchuree Wejjakul, Department of Orthopedics, Faculty of Medicine, Chiang Mai University,
Chiang Mai, Thailand, 50200. E-mail: ww.witchuree@gmail.com
Received June 26, 2013, and in revised form December 5, 2013.
74 Chiang Mai Med J 2013;52(3-4):

These suggest that mutant PTHR1 may contribute sented that the mass usually occurred in hand and
to but is not the actual cause of the disease [3]. foot [7-9]. It is less frequently seen in the foot
Moreover than mutant PTHR1, there are also than in the hand. Limb-length discrepancy pre-
other mutant genes found in enchondromatosis, sents as limb shortening causing gait abnormali-
which are FAM86D, PRKG1, ANKS1B, NIPBL ties, and is usually seen with angular deformity
and POUF51, but most of these genes have no such as varus, valgus, or distortion in longitudi-
important role in cartilage formation, [3] so there nal growth of bone [6, 10-12], and can cause the
should be the further studies to find out what is limiting of articular movement and pathologic
the actual pathogenesis of the disease that will fracture.
help us understanding more about Ollier disease. The importance of Ollier disease is that there
can be malignant transformation, which frequent-
Clinical presentation ly develop into chondrosarcoma; a malignant
hyaline-cartilage-forming tumor with no marker
Ollier disease can present with clinical features can indicate, about 25-30 percent of Ollier
of mass and limb-length discrepancy. The mass patients [1,9,10,13], and some develop into osteo-
or swelling occur closed proximity to growth sarcoma [10,14]. There are non-skeletal malignant
plate of long tubular bone (femur, tibia, humerus, lesions those are gliomas [2,13] and juvenile
fibula), small bone of hands or feet (carpal, me- granulosa cell tumors [2]. Patients are likely to die
ta-carpal, phalanges, tarsal, metatarsal bones), from non-skeletal tumor, so the examination of the
and flat bone (pelvis) [2,6]. It is rarely involved other organs that have a predilection to malignant
vertebrae and skull [1]. The distribution of the degeneration is very important for orthopaedic
lesions is usually asymmetric that localized uni- surgeons to get early diagnosis and give them the
lateral, if bilateral, there will be one dominant proper management.
side [6]. Three case reports of Ollier disease pre-

Figure 1. A 9-year-old girl presented with gait abnormality since she was 9 months. The physical examination
showed right genu varum with limb-length discrepancy of right femur and tibia.
Wejjakul W, et al. Ollier disease 75

Diagnosis cement is used to fill the cavity with good results

of providing an excellent stabilization, allowing
Clinical presentation and radiological find-
early mobilization and having a little resorption.
ings are the keys to diagnosed Ollier disease.
After tumor curettage, casting was employed for
Histopathology helps when malignancy is sus-
4 weeks to prevent postoperative pathological
pected. Only the clinical features are not enough
fractures. There is possible concern that if there
for the diagnosis because there are many diseases
is a relapse of tumor in the future, the remaining
that can present with these features, the correla-
material may make it difficult to reoperate [15].
tion between clinical presentation and radiologi-
Calcium hydroxyapatite (CHA) was used in 2
cal findings is needed for definitive diagnosis.
studies in 1990 and 2000 [16,17]. Its advantages
The radiographs show multiple, radiolucent,
were safe and convenient in facilitate the regen-
homogenous, oval or elongated-shape lesions,
eration of bone defects from surgical excision of
usually well-defined and has an axis runs parallel
benign tumors. It is a non-toxic substance that
to the long bone axis which distinguish enchon-
provokes few reaction from the tissue. The follow-
dromatosis from malignant tumor. Malignant
up after the treatment shows no local recurrent
lesion presents with poor demarcation. If there
tumor, no adverse effect from the implants such
is a cortical destruction or soft tissue extension,
as excessive postoperative drainage, erythema or
the risk of chondrosarcoma significantly increas-
other wound problems. The radiography demon-
es about 2.3 percent [2]. When malignancy is
strated new bone formation in and around CHA
suspected, the histopathology investigation is
which increasing during postoperative period
used for grading because different grade requires
that shows well-incorporated of CHA graft into
different management [1]. Magnetic resonance
host bone. The postoperative complications are
imaging (MRI) demonstrates lobulated lesions
pain and fractures which accidental occurred in
with intermediate signal intensity on T1-weight-
one case and another because the patient did not
ed images and predominantly high signal inten-
follow the instructions on bearing weight, but
sity on T2-weighted sequences [6], however,
both diminished with time. In Ollier patients
routine use of MRI is not recommended because
who have multiple masses that usually interfere
plain radiographs provide adequate information.
the function of involved organ and sometimes
caused pain, the curettage is necessary for get-
Treatment ting rid of the masses and then filling the cavity
There is no medical treatment for Ollier di- with artificial bone graft for good stabilization of
sease except to relieve symptoms such as pain. the affected bone. There are the studies showed
The surgical treatment is required when there is that filling the cavity with either alpha-tricalcium
any complication; pathological fracture, malig- phosphate or calcium hydroxyapatite (CHA),
nant transformation, growth defect, and cosmesis. provided good results with little complications
In the cases with enchondromal mass, the that can be corrected or spontaneously resolved.
curettage with bone grafting is used for complete- Ollier disease with limb-length discrepancy,
ly eradicate the mass. In fact, it is impossible to the effective treatment is distraction osteogenesis
completely eradicate the mass because the affected with the use of Ilizarov instrument. The reason
bone is weak, difficult for internal stabilization for using external fixator rather than internal
and required large amount of bone graft to cor- fixator is that it is difficult to use the internal fixa-
rect the extensive discrepancy and may be mul- tor in the patients’ fragile, pathological bone. The
tiple areas [4,11]. Due to these problems, there most important treatment goals are to achieve
are some studies recommended other material good mechanical realigned and equal limb
which can be used instead of autologous cancel- length for normal gait and relieving pain from
lous bone graft. The alpha-tricalcium phosphate pathological fracture. There are many studies
76 Chiang Mai Med J 2013;52(3-4):

regarding the correction of limb-length discre- are flexion contractures, joint stiffness [21], in-
pancy in both benign tumors and focusing in complete fracture [4], and nonunion [19]. The
Ollier disease alone [4,11-13,18-24]. Most of cases lengthening rate is about 0.5-1.5 mm per day
are fully corrected the limb-length discrepan- [4,11,12,23]. The external fixation indexes are
cies and angular deformities by using asym- 26[4], 39[11], 49.2[19] days per cm respectively.
metric distraction at least one operation, but in The recommendation for the treatment of limb-
most cases, the second operation was neces- length discrepancy in Ollier patient should be
sary. The conversion of enchondromal mass into the surgical procedure; asymmetric distraction
normal new bone regeneration can be seen on osteogenesis with Ilizarov instrument, and better
radiographs at the follow-up time. Some studies be done as early as the diagnosis is done. Most
reported that there is the conversion of the ab- cases need more than one operation. Many studies
normal cartilage to histologically mature bone showed that this surgical procedure gave an excel-
[12,18]. However, there are some complica- lent outcome with correctable complications.
tions such as pain during distraction which can The postoperative rehabilitation play an im-
be managed by oral analgesic and temporary portrant role and need the patients’ cooperation.
stopping distraction or slowing distraction rate. There is a study showed that after one month of
Pin-track infection is also a common complica- rehabilitation treatment; taking analgesic drugs,
tion, but none of the patients got severe infection underwent physical therapy such as ultrasound,
which causes morbidity and mortality. All can cryotherapy, CO2 laser, with stretching, active
be cured by antibiotics either oral or intravenous mobilization, the pain is relieved with a signifi-
form with or without surgical drainage and fol- cant decreased dose of analgesic drugs and
lowed by the good pin care. Neurapraxia can be improvement of articular function, muscular
presented soon after surgery and spontaneously strength and resistance, and better Activity of
resolved. Other complications that can be found Daily Living [24].

A B C

Figure 2. An 8-year old boy presented with left thigh swelling with hip and thigh pain on movement. A, Pre-op-
erative radiographs showed multiple, radiolucent, well-defined, elongated shape lesions run parallel to bone axis
at metaphysis extended to diaphysis of left distal femur. B, After the operation (curettage with hydroxyapatite
bone graft), the lesions were filled with HA with little new bone formation around. C, Post-operative corrective
osteotomy with Ilizarov bone lengthening. (The patient is continuously retaining the Ilizarov)
Wejjakul W, et al. Ollier disease 77

Figure 3. A-9-year old girl in A, Pre-operative radiograph showed multiple radiolucent, oval-shape lesions at
metaphysis extended to diaphysis of right proximal and distal femur and tibia. B, Post-operative Corrective
Osteotomy right distal femur and tibia and fibula with nails and long leg cast. C, At the 3-year follow-up time.
78 Chiang Mai Med J 2013;52(3-4):

Acknowledgement limb deformities and limb-length discrepancies with

the external fixator in Ollier’s disease. J Orthop Sci
Thanks to Dr.Dumnoensun Pruksakorn, 2007;12:471-5.
Dr.Yuddhasert Sirirungruangsarn, Dr.Sirichai 12. Märtson A, Haviko T, Kirjanen K. Extensive limb
Luevitoonvechkij, Dr.Songsak Khunsree and lengthening in Ollier’s disease: 25-year follow-up.
Dr. Tanawat Vaseenon for all helps and advices. Medicina(Kaunas) 2005;41:861-6.
13. Hori K, Matsumine A, Niimi R, Maeda M, Uchida
Thanks to the two patients for the informa-
K, Nakamura T, Sudo A. Diffuse gliomas in and ado-
tion, pictures and radiographs. lescent with multiple enchondromatosis (Ollier’s dis-
ease). Oncology Letters 2010;1:595-7.
Conflict of Interest none 14. Braddock GTF, Hadlow VD. Osteosarcoma in En-
chondromatosis (Ollier’s Disease). J Bone Joint Surg
[Br] 1966;48-B:145-9.
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