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 Table of Contents  
CASE REPORT
Year : 2013  |  Volume : 6  |  Issue : 1  |  Page : 84-86

Osteopoikilosis: A case report with review of literature


Department of Orthopaedics, VCSG Government Medical Science and Research Institute, Srinagar, Pauri Garhwal, Uttarakhand, India

Date of Web Publication23-Sep-2013

Correspondence Address:
Daya Krishna
Department of Orthopaedics, VCSG Government Medical Science and Research Institute, Srinagar, Pauri Garhwal, Uttarakhand
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0975-7341.118750

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  Abstract 

Osteopoikilosis is a rare hereditary condition present as an autosomal dominant trait in families, but can also present as sporadic cases. It is an asymptomatic condition; incidental radiological finding play an important role in its diagnosis. These are symmetrically distributed numerous small, well-defined, homogenous, circular or ovoid radio-densities clustered in epiphysis and metaphysis of long bones in periarticular regions. There is no age and sex affinity; age at the time of diagnosis range from 15 to 60 years. There are no specific clinical features; histological features are similar to the bone island and it may be associated with connective tissue disorders, synovial osteochondromatosis and a rare bone disease melorheostosis; genetically LEMD3 gene mutations are responsible for it. Osteopoikilosis must be differentiated from osteoblastic metastasis, synovial chondromatosis, tuberous sclerosis and mastocytosis. There are three rare complications, which have been reported like-spinal stenosis, dacrocrystitis and malignant transformation.

Keywords: Autosomal dominant, Buschke-Ollendorff syndrome, melorheostosis, osteoblastic metastasis, osteopoikilosis


How to cite this article:
Krishna D, Chand S. Osteopoikilosis: A case report with review of literature. J Orthop Traumatol Rehabil 2013;6:84-6

How to cite this URL:
Krishna D, Chand S. Osteopoikilosis: A case report with review of literature. J Orthop Traumatol Rehabil [serial online] 2013 [cited 2021 Mar 2];6:84-6. Available from: https://www.jotr.in/text.asp?2013/6/1/84/118750


  Introduction Top


Osteopoikilosis also known as osteopathia condensans dessiminata, Albergs-Schonberg disease or spotted bone disease is a rare hereditary autosomal dominant trait present in families, but can also present sporadically. There are no specific clinical features; diagnosis is made by incidental typical radiological findings in patients seeking treatment for other medical problems such as fractures, dislocation or osteoarthritis. There is an abnormality in endochondral bone maturation process and collagen regulation, which leads to the formation of trabeculae along the lines of stress. Heterozygous LEMD3 gene mutations have been shown to be the genetic cause of the disease. [1] In addition to peculiar radiological findings some patient develops superficial skin lesions and/or subcutaneous foci of dermatofibrosis. Such a combination of osteopoikilosis and skin lesions is known as  Buschke-Ollendorff syndrome More Details. Osteopoikilosis is also found in association with a more severe bone disease called melorheostosis in which asymmetric depositions of dense compact bone are present on the periosteal and endosteal surface of long bones and leads to bone deformation, ossification of soft-tissue in joint proximity and compression of adjacent nerves and vessels and result in pain. Another associated disorder is synovial osteochondromatosis in which calcified nodules are present in proximity to the joint due to cartilaginous metaplasia with synovial villous proliferation. [1],[2],[3]

In familial or congenital osteopoikilosis the affected family members suffer from moderate to intermittent pain in hands and feet, with the onset of the sympotoms ranging from 15 to 26 years of age and rare before 3 years of age. [4] The bony lesions can be very few at a young age, therefore can be missed early in life. Histologically the bone lesions are numerous dense bone trabeculae slightly thicker than normal within the spongiosa.


  Case Report Top


A 24-year-old male patient presented to us with pain in the left knee for the last 3 months. There was a history of knee sprain 3 months back with mild swelling. Patient took medication for pain and swelling. Swelling subsided after 1 week, but mild pain still persisted.

On examination, knee stability test were normal except mild pain on valgus stress test, there was bony tenderness over attachment of the medial collateral ligament on the femoral condyle and our clinical diagnosis goes toward Pellegrini Stieda disease. Patient was advised anterior-posterior and lateral views of the affected knee. On examination of radiograph, there was mild calcification present at attachment of the medial collateral ligament and a small loose body was present posterior to the joint. Besides these findings, there are small multiple round to oval, homogenous radio-densities present over the epiphyseal and metaphyseal area of the femur and tibia around the knee joint [Figure 1]a, hip joint [Figure 1]b, pelvis [Figure 1]c and bilateral small bones of hand [Figure 1]d. These densities were present within the cortex and cartilage and ruled out synovial chondromatosis. The presence of same symmetrical densities around the hip joint, inferior pubic rami, sacroiliac joint and small joints of hands helped us in making a diagnosis of a rare disease-osteopoikilosis. Blood investigations such as erythrocyte sedimentation rate, rheumatoid factor, C-reactive proteins, liver function test, kidney function test, serum-calcium, phosphorus and alkaline phosphatase levels were normal. Patient was treated in the line of  Pellegrini-Stieda disease More Details and got relief after 3 weeks of treatment.
Figure 1: (a) Radio densities around knee. (b) Radio densities around hip. (c) Radio densities around pelvis. (d) Radio densities in wrist and finger

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  Discussion Top


Oteopoikilosis is an asymptomatic disorder characterized by hyperostotic spots most frequently present in periarticular regions of long bones, small bones of carpal and tarsal and less commonly in ribs, skull and vertebrae. These spot are results of an abnormality in the endochondrol bone maturation process [5] and corresponds to old and inactive remodeling of spongy trabeculae in epiphyseal and metaphyseal locations. The distribution and appearance of these densities are related to the mechanical strain on spongy trabeculae of that particular area of the skeletal system. [6] Genetically heterozygous LEMD3 gene mutations have been shown to be the primary cause of disease. [1] Familial clustering shows autosomal dominant inheritance with variable clustering, but can also present sporadically. Incidence is approximately 1 in 50,000 and there is no age and sex predilection mostly diagnosed between ages of 15 and 60 years. It typically develops during childhood and persists throughout the life.

The clinical features of osteopoikilosis are non-specific; there may be moderate to intermittent pain in hands and feet with joint effusion in 15-20% [7] patients although most patients are symptomless. Diagnosis is mostly incidental in patients seeking treatment for other orthopedic problems such as fractures, dislocations, osteoarthritis and sprains. Some patients affected by osteopoikilosis develop superficial skin lesions, which are connective tissue nevi (Dermatofibrosis lenticularis disseminate) in which skin colored or small yellow papules to plaques are seen. This condition is known as Buschke-Ollendorff syndrome. [1],[8]

Radiological findings are multiple small radio-densities of oval or round shape, 2-10 mm of size symmetrically distributed in periarticular region of long bones. The most common sites are phalanges (100%), carpal bones (97.4%), metacarpals (92.3%), foot phalanges (87.2%), metatarsal (84.4%), tarsal (84.6%), pelvis (74.4%), femur (74.4%), radius (66.7%), ulna (66.7%) and tibia (20.5%) and is less common in ribs, vertebrae and skull. [5] In bone scan slightly increased activity similar to bone island or enostosis is present that reflect active osseous remodeling. This increased activity with classic radiographic finding is normal in young age, but in old age must be thoroughly investigated. [8] In a young patient, abnormal bone scan does not exclude osteopoikilosis if characteristic radiographic findings are present. [9]

Histological features are the same as bone islands. These densities are focal condensation of dense trabeculae of spongy bone within the spongiosa. [4],[5],[10]

Osteopoikilosis is associated with melorheostosis [2] in which asymmetrical compact bone deposition take place on the periosteal and endosteal surface of long bones and leading to deformation of bones, compression of soft-tissue, nerves and vessels and can result in symptoms of compression such as pain and neuro-vascular deficit. [1] The most common overlap syndrome (mixed sclerosing dystrophy) in which osteopoikilosis combined with other osteosclerotic disorders is a combination of melorheostosis, osteopoikilosis and osteopathia striata (type 1) [7] It has been also found to be associated with a tendency of keloid formation, spinal stenosis, dwarfism, dystocia, tuberous sclerosis and scleroderma. [2],[5]

The differential diagnosis includes osteoblastic metastasis, tuberous sclerosis, mastocytosis and synovial chondromatosis. Most of the time, it is confused with osteoblastic metastasis; uniform size, symmetrical periarticular distribution with normal bone scan or slightly increased activity, normal alkaline and acid phosphatase support the diagnosis of osteopoikilosis in contrast asymmetry, axial skeleton involvement, bony destruction, positive bone scan are main diagnostic features of osteoblastic metastasis. [5],[6] The typical features of osteopoikilosis are less striking in mastocytosis and tuberous sclerosis. Several developmental dysplasia coexisting with osteopoikilosis have been reported by many authors as case reports, which suggest osteopoikilosis is a bony manifestation of a generalized fibroproliferative or stenosing disease [8] thus in a case of osteopoikilosis always consider associated fibroproliferative disorders.

Complications of osteopoikilosis are rare, but cases of osteosarcoma, chondrosarcoma, and giant cell tumor [11] have been reported although no definite association has been established. [4] Knowledge of typical radiological features, differential diagnosis and associated disorders can prevent unnecessary investigation and anxiety to both patient and doctor prognosis for the patient is good; however asymptomatic members of their family should be screened as some of these can develop malignant transformation.

 
  References Top

1.Baasanjav S, Jamsheer A, Kolanczyk M, Horn D, Latos T, Hoffmann K, et al. Osteopoikilosis and multiple exostoses caused by novel mutations in LEMD3 and EXT1 genes respectively - Coincidence within one family. BMC Med Genet 2010;11:110.  Back to cited text no. 1
[PUBMED]    
2.Nevin NC, Thomas PS, Davis RI, Cowie GH. Melorheostosis in a family with autosomal dominant osteopoikilosis. Am J Med Genet 1999;82:409-14.  Back to cited text no. 2
[PUBMED]    
3.Havitçioglu H, Günal I, Göçen S. Synovial chondromatosis associated with osteopoikilosis - A case report. Acta Orthop Scand 1998;69:649-50.  Back to cited text no. 3
    
4.Hann G, Thust SC, Devereux E. Mysterious but not serious? BMJ Case Rep 2011;2011.  Back to cited text no. 4
    
5.Khot R, Sikarwar JS, Gupta RP, Sharma GL. Osteopoikilosis: A case report. Indian J Radiol Imaging 2005;15:453-4.  Back to cited text no. 5
  Medknow Journal  
6.Lagier R, Mbakop A, Bigler A. Osteopoikilosis: A radiological and pathological study. Skeletal Radiol 1984;11:161-8.  Back to cited text no. 6
[PUBMED]    
7.Alymlahi E, Chami I, Boujida NM, Bacadi D. Osteopoikilosis (OPK). Appl Radiol 2007;36.  Back to cited text no. 7
    
8.Gunal I, Kiter E. Disorders associated with osteopoikilosis: 5 different lesions in a family. Acta Orthop Scand 2003;74:497-9.  Back to cited text no. 8
[PUBMED]    
9.Mungovan JA, Tung GA, Lambiase RE, Noto RB, Davis RP. Tc-99m MDP uptake in osteopoikilosis. Clin Nucl Med 1994;19:6-8.  Back to cited text no. 9
[PUBMED]    
10.Benli IT, Akalin S, Boysan E, Mumcu EF, Kiþ M, Türkoðlu D. Epidemiological, clinical and radiological aspects of osteopoikilosis. J Bone Joint Surg Br 1992;74:504-6.  Back to cited text no. 10
    
11.Ayling RM, Evans PE. Giant cell tumor in a patient with osteopoikilosis. Acta Orthop Scand 1988;59:74-6.  Back to cited text no. 11
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    Figures

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