Ollier disease, also known as multiple enchondromatosis, is a rare congenital disease of unknown etiology. The main manifestation of this disease is a non-ossifying chondrocyte mass or hamartomatous growth of a chondrocyte in the metaphysis. A few cases can develop into chondrosarcoma or osteosarcoma. The present study describes the case of a 37-year-old male patient with left hip pain and dyskinesia diagnosed with Ollier disease, according to clinical features and findings of imaging analysis. In general, the incidence of Ollier disease is low, and thus, it is not well-known among orthopedic surgeons. However, due to its malignant transformation rate, medical practitioners should encourage patients to undergo regular follow-up examinations. In an aim to provide some insight into this disease, the present study begins by describing the case of an affected patient case and subsequently presents a review of the relevant literature in order to guide the clinical diagnosis and treatment of the disease.
In 1889, Ollier described a rare disease characterized by multiple, unilateral limb endogenous chondromas associated with limb deformities (
It mainly manifests as local pain, bone swelling, palpable bone mass and bone deformity (
A 37-year-old man had initially developed an obvious mass on his left index, middle and index fingers at the age of 6 years; however, no special treatment was administered. After 30 years, the masses on the patient's hands had grown in size, acquiring a dendritic shape, and were accompanied by pain, leading to limited function and movement. Moreover, the left hand (
Following a pre-operative preparation, and under brachial plexus anesthesia and local anesthesia, the 2nd, 3rd and 4th metacarpophalangeal joints of the left hand were severed, and the lesions of the proximal left femur were biopsied. The doctor sent the severed finger and the lesion on the proximal left femur to the pathology department for examination. The results revealed that the proximal focus of left femur exhibited a tumor-like hyperplasia of chondrocytes, nuclear atypia, suggesting chondrosarcoma grade II (
Multiple enchondromatosis is a rare heterogeneous skeletal disease, which can be divided into six subtypes as follows: Ollier disease, Maffucci syndrome, metaphyseal chondromatosis, metatarsal chondromatosis, spinal interstitial chondrodysplasia and spinal interstitial chondromatosis (
In terms of etiology, Amary
The diagnosis of Ollier disease is based on clinical manifestations and a routine radiological evaluation. A histological analysis is mainly used to identify malignant tumors. Other examinations, such as radionuclide scanning, ultrasound and MRI, are not helpful in determining the diagnosis. They are used to evaluate and monitor skin lesions with symptoms (pain and increased volume). However, there is no simple method for the genetic diagnosis in clinical practice (
The disease mainly manifests in the short tubular bones of the hand, followed by the femur, tibia, fibula, humerus, radius, ulna (
Radionuclide bone imaging is the most effective tool for the diagnosis of multiple lesions and malignant transformation (
On the whole, an X-ray can diagnose correctly typical cases. A CT scan can reveal calcification foci, which is of great significance in determining whether there a malignant alteration exists. An MRI examination can visualize the cartilage components in the lesions to further clarify the lesions and improve the accuracy of diagnosis.
Lesions sent for examination can reveal the following: The destruction of bone tissue, followed by the extensive proliferation of chondrocytes and visible calcification. The typical changes involved in the development into chondrosarcoma are nuclear polymorphisms and hyperchromaticity, exhibiting pathological mitosis (
The clinical diagnosis of Ollier disease is relatively simple, and there is no obvious sex-associated trend in the majority of patients. The first onset of Ollier disease usually appears within the first 10 years of life, appearing as a single or multiple bone mass. With the increase in age, corresponding limb deformities appear in Ollier disease, which subsequently affect the growth and development of children.
To the best of our knowledge, to date, there is no available method of genetic diagnosis for this disease.
It has been reported that there is no specific drug treatment for Ollier disease (
In conclusion, Ollier disease is characterized by multiple endogenous chondromas of one limb with ipsilateral limb deformities. The incidence rate is ~1/100,000. With the development in research methods, the pathological and genetic mutation characteristics of the disease are gradually becoming clearer. However, the follow-up of patients with the disease is crucial, as other systemic diseases and easily malignant changes may accompany the course of the disease (
Not applicable.
The datasets used and/or analyzed during the current study are available from the corresponding author on reasonable request.
JW and JL participated in the conception and design of the study. JW, ZW and JL confirm the authenticity of all the raw data. All authors read and approved the final manuscript.
Written informed consent was obtained from the patient presented in this case report prior to his death.
As the patient passed away, consent for his data to be published was provided by the patient's brother.
The authors declare that they have no competing interests.
General images of (A) the left hand and (B) the left lower extremity.
Localized bone destruction and bone expansive growth in the (A) left hand, (B) left hip, (C) left knee, (D) left ankle and (E) left foot.
Bone destruction of the left hip joint and abnormal signal of the surrounding soft tissue can be seen. Post-operative pathological examination revealed that the lesion in the left hip joint developed into chondrosarcoma.
(A) Biopsy sample from the end of the finger, revealing a cartilaginous tumor with nodular lobular hyperplasia and calcification, consistent with Ollier disease. (B) Biopsy sample from the left hip joint. The size of the nucleus is different, atypia is evident, and pathological mitosis can be seen, thus suggesting chondrosarcoma grade II.
Results of the laboratory examination of the patient.
Parameter | First admission | Last follow-up | Normal reference range |
---|---|---|---|
Platelet count (109 g/l) | 389 | 462 | 125-350 |
Alkaline phosphatase (U/l) | 149 | 188 | 45-125 |
Lactate dehydrogenase (U/l) | 255 | 267 | 120-250 |
Neuron-specific enolase (ng/ml) | 15.9 | - | <13 |
ESR (mm/h) | 6 | 61 | 0-15 |
CRP (mg/l) | 7 | 182 | 0-10 |
D-Dimer (ng/ml) | 175 | 652 | <255 |
ESR, erythrocyte sedimentation rate;