Multiple exostotic chondrodysplasia is a hereditary genetic disease that occurs in 1:50,000 people. 90% of patients with MECD have a family history of the disease demonstrating mutations in the EXT 1 or EXT 2 genes. It is possible to develop MECD as a result of spontaneous gene mutation.
Multiple exostotic chondrodysplasia is characterized by the formation of up to 350-400 osteochondral outgrowths, the so-called. exostoses (osteochondromas) of various locations: upper limbs, lower limbs, ribs, shoulder blades, vertebrae. At their core, osteochondromas or osteochondral exostoses are benign bone tumors.
What treatments are used?
- Resection (or removal) of osteochondroma(s). Indications for this operation are long-term pain and neuropathy. Osteochondroma, which is the cause of deformation. Thus, osteochondromas located in the interosseous space on the forearm that are not identified and not removed in a timely manner can cause retarded growth of the ulna, which leads to deformation of the radius and, accordingly, ulnar clubhand. Also, the forearm loses its rotational function;
- Hemiepiphysiodesis with figure-of-eight plates and screws (controlled growth). An extremely effective method in the treatment of lower limb deformities in growing children. In some cases, the method is used repeatedly as the child grows. When using controlled growth, the child does not lose the ability to move for a single day;
- Corrective osteotomies (crossing the bone with immediate elimination of deformity) with internal fixation (plates locked with intramedullary rods). This option of surgical treatment is indicated in cases where the patient did not undergo controlled growth in a timely manner or it was impossible to use it;
- Osteotomies (bone transection) in combination with transosseous osteosynthesis and gradual lengthening of the bone(s) correction of deformity. The method is indicated in cases of shortening of the bone(s), its deformation. For example, with ulnar clubhand, lengthening of the ulna and correction of deformation of the radius are often indicated, which can only be done using the method of transosseous osteosynthesis.
For more information about the treatment methods used, see the “Treatment Methods” section.
In each case, the decision on the choice of surgical treatment method and its necessity is made by the surgeon individually.
Example 1: Photographs and radiographs of an 11-year-old boy with MEHD, who simultaneously underwent treatment of left femoral deformity using hemiepiphysiodesis, resection of osteochondromas of the forearm bones, and lengthening of the ulna using transosseous osteosynthesis.
Example 2: Photographs and radiographs of a 7-year-old boy with MEHD, for which deformity of both legs and the right thigh was simultaneously treated with hemiepiphysiodesis, resection of osteochondromas of the forearm bones and lengthening of the ulna using transosseous osteosynthesis.
POLYTRAUMA / POLYTRAUMA
Milyukov A.Yu., Gilev Y.Kh., Ustyantsev D.D., Milyukov Yu.A.
State Autonomous Healthcare Institution of the Kemerovo Region "Regional Clinical Center for the Health of Miners", Leninsk-Kuznetsky, Russia, Federal State Budgetary Institution "Novosibirsk Research Institute of Traumatology and Orthopedics named after. Ya.L. Tsivyana" of the Ministry of Health of Russia, Novosibirsk, Russia
MULTIPLE EPIPHYSAL CHONDRODYSPLASIA: FEATURES OF PRIMARY HIP ENDOPROSTHETICS
Target
– to determine the features of primary hip arthroplasty in patients with familial multiple epiphyseal chondrodysplasia.
MATERIAL AND METHODS
Under observation was a family of adult close relatives of three people: a woman - the head of the family, 51 years old, and her adult children: a son, 31 years old, and a daughter, 27 years old, suffering from a family hereditary disease - multiple epiphyseal chondrodysplasia. To verify the diagnosis, anamnestic, clinical, radiological and morphological research methods were used. All patients underwent bilateral total hip arthroplasty at different times.
RESULTS AND DISCUSSION
Multiple epiphyseal chondrodysplasia (MEChD) is a family-hereditary disease, inherited predominantly in an autosomal dominant manner, characterized by impaired enchondral ossification, manifested by short stature, joint stiffness, pain and deformities of the limbs. It is a rare systemic disease from the group of epiphyseal dysplasias. The birth rate of children with MECD is 1.5 per 5,000 births [1]. Multiple epiphyseal chondrodysplasia is based on a defect in the center of ossification of the epiphyses. In this case, the formation of cartilage occurs normally, the processes of ossification and formation of the chondral cavity are disrupted. MECD is clinically detected equally often in people of both sexes, at the age of 8-9 years, therefore it is classified as a late form of dysplasia [2, 3]. In 1912, an English doctor from the children's hospital in London, Barrington-Ward, published a paper in the Lancet entitled “Bilateral coxa vara in a brother and sister combined with other deformities.” M. Jansen (1934), who observed one case of such a disease, described it as an atypical form of achondroplasia and called it “metaphyseal dysostosis.” For a long time, MECD was considered as an atypical form of achondroplasia (chondrodystrophy) or more often as multiple chondropathy (Parrot disease). In 1947, T. Fairbank proposed the name of the disease “multiple epiphyseal chondrodysplasia”, and the disease was named in his honor - Thomas John Fairbank (1912-1998) - an English orthopedic surgeon, son of the legendary orthopedic surgeon Harold Arthur Thomas Fairbank (1876- 1961). He defined that “epiphyseal deformity is a rare congenital condition characterized by mottled and irregularities in the density and shape of several developing epiphyses” [4-6]. In the domestic literature, this disease was described in different years by V.A. Dyachenko, N.V. Novikov, M.V. Volkov, M.A. Koval [3, 7, 8]. Early differential diagnosis of dysplasia presents significant difficulties due to the similarity of the clinical picture and the lack of clear criteria for radiological diagnosis in the literature [9, 10]. The skeleton of a newborn child consists of approximately 270 bones, in contrast to the skeleton of an adult (about 200-210 bones), depending on the structural features of the body of each individual. This is explained by the fact that in a child’s skeleton, some of the small bones eventually grow together into large bones. The femur is the longest bone in the skeleton, the smallest is the stapes in the middle ear. Another feature of the skeletal structure in infants is the fact that they do not have patellas, which appear only by the age of 2-6 years (Fig. 1) [11].
Figure 1.
X-ray of a newborn child
With MECD, the epiphyses of the tubular bones are mainly affected and the primary defect - with a distortion of chondrogenesis - occurs in the central zone (ossification nucleus) of the cartilaginous anlage of the epiphysis, where calcification, ossification and the creation of bone structures begin [12, 13]. The progression of the process stops after the closure of the growth zones, but the resulting deformation of the epiphyses causes functional inferiority of the joints and the very early development of coxarthrosis, which intensifies as a person ages [14, 15]. The entire epiphysis is fragmented, mushroom-shaped, the fragments have different sizes, shapes and uneven fusion (Fig. 2).
Figure 2.
Intraoperative gross preparations of the femur
The epiphyses acquire an irregular angular shape, their contours are uneven and fringed. The physeal zones are secondarily involved in the process. They are sinuous, with uneven contours. The joint spaces are unevenly widened. With the same general picture, changes in each joint have characteristic differences. In the hip joints, with a normal pelvic shape, the acetabulum may be somewhat flattened, the roofs are sloping, with an unevenly compacted and loose structure. Along with changes in the head and greater trochanter, shortening of the femoral neck and a decrease in the neck-diaphyseal angle are observed, which leads to “coxa vara” deformity. In the knee joints, the epiphyses of the femur and tibia are equally changed. In the ankle joint, the trochlea of the talus is more deformed (Fig. 3).
Figure 3.
X-ray of large joints of the lower extremities of a 25-year-old man suffering from MED (2005)
Treatment of epiphyseal dysplasia remains one of the most difficult problems in orthopedics. The applied course of conservative treatment (therapeutic gymnastics, massage, physiotherapeutic treatment) partially relieves pain and helps maintain range of motion in the joints, but does not prevent deformation of the epiphyses. The generally accepted tactics of surgical treatment include performing soft tissue interventions to correct existing contractures and decompress the hip joint. In the following years, due to recurrence of contractures, there is a need for repeated operations - corrective osteotomy of the femur in combination with teno- and myotomies, capsulotomy and fasciotomies [16, 17]. From about 18-20 years of age, total endoprosthetics is the operation of choice [18-20]. However, the previous multiple surgical interventions and multiplanar iatrogenic deformation of the proximal femur are a problem when installing an endoprosthesis and its functioning in the future [21-25]. During our observation of a family of close relatives (mother, son and daughter), all of them underwent operations: sequential total endoprosthetics of both hip joints (Fig. 4, 5, 6).
Figure 4. Patient P. (son), operated on at the ages of 31 and 32 years, 2011. Right. WRIGHT: cup 56, neck short, head 50, 2012 Left. WRIGHT: cup 48, neck short, head 42, stem 4
Figure 5. Patient P. (head of the family), operated on at the ages of 51 and 52 years, 2012. Right. DePuy: cup 52 pinnacle, marathon polyt., head 36\+4 met, stem 12, 2011 Left. WRIGHT: cup 50, neckshort, head 44, stem 3
Figure 6. Patient P. (daughter), operated on at the ages of 27 and 28 years, 2015. Right. ESI: cup 48, chirulen, stem 1, head 28\M., 2016. Left. ESI: cup 48, chirulen, stem 1, head “Beads” ceram. 28\M.
The first two family members (mother and son) underwent corrective femoral osteotomies in combination with tenomyotomies in childhood. The daughter has only tenomyotomy combined with right-sided fenestration of the fascia lata. The most pronounced anatomical and biomechanical aspects of the development of the pathological process in these patients included incongruence of the articular surfaces, muscle imbalance, and disruption of axial relationships in both the joint and the limb. It should be noted that if the aspect of incongruity in the joint was solved by choosing a model, the type of friction pair and the size of the prosthesis and, in general, did not pose a serious problem, then the issue of muscle imbalance and disruption of axial relationships could sometimes reduce operational efforts to zero. We directly encountered this problem during the first operation on a 31-year-old young man (son of the family) in 2011. Under spinal anesthesia, through a minimally invasive approach, without crossing any muscles, an endoprosthesis of the right hip joint was implanted using the WRIGHT model: cup 52, stem 3, neck long 8 gr., head 28-0 med. Under anesthesia, actually before the operation, performing passive movements in the joint, with flexion in the joint about 70-80 degrees. there was a feeling that the rotational movement was somewhat transforming into a shift along the plane (English shifting, literally “shift”). After implantation of the endoprosthesis, intraoperative monitoring determined the full range of motion and the absence of a tendency for subluxation and dislocation. But in the coming days, after the patient became more active, the endoprosthesis dislocated in the operated limb as the amplitude of his active movements increased. The situation required a deep rethink. Let’s not intrigue the reader - “the box opened” thanks to a repeated careful study of the functional anatomy of A. Kapandzhi “Lower limb. Functional anatomy”, 2010 [26]. The situation we encountered in the operating room is explained by the “A. Kapandzhi effect”: “The motor function of the muscles of a joint with three degrees of freedom varies depending on its position, and it is their secondary function that can change or even become reversed.” In our patient, clinical testing revealed that when the hip is flexed to 90°, the gluteus minimus clearly functions as an internal rotator and becomes an adductor along with the tensor fasciae lata. The resulting movement realized by these muscles at a given moment has three components: flexion, adduction, internal rotation, through which hip dislocation is realized. With passive movement, despite the fact that the flexion amplitude reaches 120 degrees, the resulting movement of these muscles is absent and there is no clinical tendency for dislocation. Considering all of the above, during subsequent operations we took this effect into account and combined the implantation of the endoprosthesis with targeted partial myo- and tenotomies, which ensured a good functional result in the future.
CONCLUSIONS:
Disturbances in anatomical-functional relationships in the joints, changes in postural balance in patients with multiple epiphyseal chondrodysplasia, as well as previous multiplanar iatrogenic surgical osteotomies of the proximal femur require careful preoperative planning, individual prosthesis implantation techniques and intraoperative correction of functional anatomy in each individual patient. Ignoring the above may lead to problems during the installation of the endoprosthesis and its functioning in the future.
Funding and conflict of interest information:
The study had no sponsorship. The authors declare that there are no obvious or potential conflicts of interest related to the publication of this article.
LITERATURE:
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Osteochondroma (osteocartilaginous exostosis)
A benign exophytic formation, consisting of a bone base, covered with cartilage tissue on top and located on the surface of the bone.
The formation can be single or generalized in the form of multiple exostotic chondrodysplasia. According to the ICD for oncology (ICD-O3), osteochondroma is coded as 9210/0; according to ICD-10, MEC is coded as Q78.6.
Clinic
Osteochondroma is the most common skeletal tumor. It is detected mainly in children and young adults. Exostoses are most often localized in the metaphyses and growth zones of long tubular bones (femur, tibia, humerus), but can also develop in flat bones (pelvis, scapula, ribs); lesions of the spine are rare. With multiple chondrodysplasia, exostoses affect several segments and have different shapes and sizes. Osteochondromas do not appear simultaneously; their growth and the appearance of new exostoses continue until the growth zones close. It is also possible that osteochondral exostoses will continue to grow against the background of hormonal changes in the body in women.
Clinical manifestations of exostotic chondrodysplasia depend on the location, size, and relationship with surrounding structures. At the beginning of the disease, the process is asymptomatic and the first sign is the identification of a palpable formation (dense, immobile, painless). Pain occurs when there is compression of the surrounding soft tissues, involvement of the neurovascular bundle, a fracture of the base of the osteochondroma, or malignancy. Often, during periods of active skeletal growth, bone deformations are observed in the form of curvature or shortening of a segment. If the pelvic bones, ribs or spine are affected, dysfunction of the pelvic organs, lungs or neurological symptoms may occur.