[box type=”bio”] What to Learn from this Article?[/box]
1.Differential Diagnosis of Osteopoikilosis?
2.Approach to patient of osteopoikilosis presenting with traumatic fracture?
Case Report | Volume 3 | Issue 2 | JOCR April-June 2013 | Page 12-15 | Bansal R, Pathak AC, Sheth B, Patil AK
Authors: Rohan Bansal[1] , Aditya C Pathak[2], Binoti Sheth[3], Atul K Patil[3]
[1] Department Of Orthopaedics, Government Medical College, Miraj and PVPGH, Sangli. India
[2] Dr LH Hiranandani Hospital, Powaii, Mumbai.
[3] Department of Orthopaedics, Lokmanya Tilak Medical College & Sion Hospital, Mumbai. India
Address of Correspondence:
Dr Rohan Bansal: Assistant Professor, Department Of Orthopaedics, Government Medical College, Miraj and PVPGH, Sangli- 416416. Email- rohan_00140@yahoo.com
Abstract
Introduction: Osteopoikilosis or osteopathia condensans disseminata is a rare hereditary autosomal dominant sclerosing bone dysplasia. Patients are usually asymptomatic and the diagnosis is usually made incidentally on radiographs which show presence of symmetric, multiple, well defined, small ovoid areas of increased radiodensity clustered in peri-articular osseous regions with propensity for epiphyseal and metaphyseal involvement. There are no increased risks of pathological fracture in a case of osteopoikilosis and traumatic fracture healing in a case of osteopoikilosis is similar to fracture occurring in other normal patients.
Case Report: A 34 years male, electrician came with history of accidental fall from height while working in office leading to development of pain and swelling over left lower leg and ankle diagnosed with Ruedi-Allgower classification type I pilon fracture(without fibula fracture) no distal neuro-vascular deficit. Patient was offered surgical treatment in form of open reduction and internal fixation of tibial fracture by plate osteosynthesis using antero-medial approach , showed complete union and was followed up for eight months.
Conclusion: Osteopoikilosis has a benign course and it should always be kept as a possible differential diagnosis for osteoblastic metastasis to avoid diagnositic dilemma. Diagnosis can be settled by routine x-rays ( for type ,extent and site of lesions, bones affected), clinical features of patient , histopathology and other systemic or pre-existing conditions.
Keywords: Fracture , Osteopoikilosis , union, Pilon, Osteoblastic metastasis
Introduction
Osteopoikilosis first described by H. Albers-Schonberg in 1915 is a rare autosomal dominant sclerosing dysplasia of unknown etiology with an estimated prevalence of 1:50000 [1].It is seen more commonly in males as compared to females [2,3]. It is usually asymptomatic and is a coincidental finding on radiology. However sometimes it may present with joint pain and swelling(15 % of patients), skin manifestations, rheumatic and skeletal disorders , organ anomalies and endocrine dysfunction [2,4]. Case reports showing co-existence of osteopoikilosis with rheumatoid arthritis and discoid lupus erythematosus have also been published [5]. However pathological fractures in case of osteopoikilosis have not been demonstrated. Fracture healing in a case of osteopoikilosis is similar to fracture healing in a normal patient. Patients with osteopoikilosis usually do not require any specific treatment for the condition.
Case Report
A 34 years male, electrician in came with history of accidental fall from height while working in office leading to development of pain and swelling over left lower leg and ankle .Patient was completely asymptomatic prior to the episode. Patient’s general examination was normal and no abnormality was detected. On examination, patient had swelling and tenderness over lower one-third left leg with bony crepitus and painful ankle movements of left ankle with no distal neuro-vascular deficit. Routine full length left tibia-fibula with ankle radiographs were done (Fig. 1) which showed Ruedi-Allgower classification Type I Pilon fracture (without fibula fracture). Incidental finding seen on the radiograph was well defined, multiple sclerotic lesions or bony islands in lower end of tibia and tarsal bones Radiographs of other parts of body were done which showed presence of similar multifocal bone islands in hand phalanges, metacarpals, carpal bones, metatarsals, tarsals, lower ends of radius, lower ends of ulna and head of femur on both sides (Fig. 2). However ribs , Skull and vertebra were spared (Fig. 3). Lesions were well defined, symmetrical, epiphyseal-metaphyseal involvement of small as well as long bones of body. Patient’s serum calcium, phosphates and alkaline phosphatase levels were normal. Bone scan was normal. Patient had no evidence of any systemic involvement other than skeletal system.
Patient was offered surgical treatment in form of open reduction and internal fixation of tibial fracture by plate osteosynthesis using antero-medial approach (Fig. 5). Intraoperatively patient’s bone had a normal appearance and consistency as compared to a normal bone (Fig. 4). Fracture was treated with locking lower end tibial plate on medial tibial surface with 3.5 mm reconstruction plate anteriorly. Reconstruction plate was used anteriorly for fracture reduction as fracture was very communited anteriorly. Intraoperative biopsy specimen was sent which showed there were focal condensations of compact lamellar bone within the spongiosa confirming the diagnosis of osteopoikilosis. Post-operatively patient was started ankle and knee mobilisation from third day. Patient was also started nil weight bearing on crutches immediately post operatively. Patient was started partial weight bearing walking after six weeks and full weight bearing after twelve weeks Fracture union was complete after twelve weeks(Fig 6). Patient was walking full weight bearing after twelve weeks of surgery without any limp or pain and had normal range of motion at knee and ankle. Patient had complaints of prominent plate after eight and implant removal was done after which patient was completely normal and was able to perform all daily routine activities with normal ankle and knee range of motion.
Discussion
Osteopoikilosis (OPK) or osteopathia condensans disseminata can be transmitted as autosomal dominant or can be sporadic [6]. Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis [7].
In osteopoikilosis, osteosclerotic dysplasia of bones develops during childhood and persists throughout life. It occurs as a result of impairment of secondary spongiosa resorption and remodeling. Patients with osteopoikilosis are usually asymptomatic and diagnosis is usually an incidental finding when patient is being investigated for some other reason. However sometimes it may present with joint pain and swelling(15 % of patients), skin manifestations (dermatofibrosis lenticularis disseminata, keloid formation, plantar and palmar keratomas), rheumatic and skeletal disorders (arthritis, exostoses, osteitis condensans ilii, melorheostosis, spinal stenosis, chondrosarcoma, osteosarcoma), organ anomalies (aorta coarctation, double ureter, growth abnormalities, hare lip, dental abnormalities) and endocrine dysfunction (diabetes mellitus) [1,2,3,8] .Case reports demonstrating co-existence of osteopoikilosis with rheumatoid arthritis, discoid lupus erythematosus, reactive arthritis , polyarthralgia and familial Mediterranean fever have also been published. Presence of connective tissue nevi called dermatofibrosis lenticulari disseminata with osteopoikilosis comprise Buschke-Ollendorff syndrome [2,3].
Radiographs show presence of multiple, small, well-defined, variably shaped and widely symmetrically distributed sclerotic areas all over the skeleton with propensity for epiphyseal and metaphyseal involvement and predilection for phalanges(100%), carpal bones(97.4%), metacarpals (92.5%), foot phalanges(87.2%), tarsal bones(84.6%), metatarsals(84.2%), 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%) according to literature with characteristic sparing of skull, ribs and vertebrae [1]. Patients have normal hematological investigations. Patients have a normal bone scan with normal serum calcium, phosphates and alkaline phosphatase levels [8]. Histologically, bone islands consisting of mature bone with thickened trabeculae seen within spongy bone. At the periphery of the lesion, the lesional trabeculae merge with the normal bone and there is no sclerotic rim. Occasionally, woven bone is a minor part of the lesion The condensations of cancellous bone consist of a peripheral area of trabeculae in which osteocytes are scant, and there are no osteoblasts or osteoclasts, together with a central core of irregular trabeculae in which both osteoblasts and osteoclasts are present. The lesions appear to be metabolically active; in the immature skeleton they become denser with growth, but later they may change their sue or even disappear altogether. The precise origin of these abnormal areas remain debatable, but they appear to represent foci of deranged differentiation in cancellous bone [1].
Differential diagnosis includes osteoblastic bone metastasis, melorheostosis, osteopathia striata, mastocytosis, tuberous sclerosis and synovial chondromatosis (Table 1). However characteristic radiological appearance of bony lesions with a normal bone scan clinches diagnosis of osteopoikilosis. Typically patients are asymptomatic, although as many as 20% may have mild articular pain and effusion. Clinically osteopoikilosis must be distinguished from more severe dysplasias, such as tuberous sclerosis, mastocytosis, and, most importantly, osteoblastic metastatic lesions. Typically, findings of bone scans are normal in osteopoikilosis, and this feature has sometimes been used to differentiate it from metastatic bone disease. A radionuclide bone scan is essential in distinguishing OPK from primary bone tumors or osteoblastic bone metastases. Bone scan findings are usually normal in patients with OPK, but reveal slightly increased activity similar to the bone island or enostosis that reflects active osseous remodeling that may be detected, especially in young patients with classic radiographic findings that are consistent with OPK. An abnormal scan finding in an older patient should, however, be thoroughly investigated. A malignant transformation is also conceivable if the cellular activity exists in the foci of OPK [9,10]. A symmetric distribution of the lesions has been observed in osteopoikilosis, although this has not been statistically analyzed. The radiopaque areas can increase or decrease in size and number, or even disappear [11]. Such a feature is not seen in osteoblastic metastasis.
Patients with osteopoikilosis do not have an increased incidence of pathological fractures [12] and fracture healing in a patient of osteopoikilosis is similar to fracture healing in a normal patient. Time taken for fracture union in a case of osteopoikilosis is also comparable to that taken for fracture union in a normal patient [12]. Patients with osteopoikilosis lead a normal asymptomatic life and can perform all daily routine activities. No specific treatment for osteopoikilosis is required. In conclusion although osteopoikilosis has a benign course, it should always be kept as a possible differential diagnosis for osteoblastic metastasis to avoid misdiagnosis and avoid unnecessary costly investigations.
Conclusion
Patients with osteopoikilosis lead a normal asymptomatic life and can perform all daily routine activities. No specific treatment for osteopoikilosis is required. In conclusion although osteopoikilosis has a benign course, it should always be kept as a possible differential diagnosis for osteoblastic metastasis and diagnosis dilemma can be settled by routine x-rays (for type ,extent and site of lesions, bones affected) Clinical features of patient, Histopathology and other systemic or pre-existing conditions.
References
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3. Carpintero P, Abad JA, Serrano P et al – Clinical features of ten cases of osteopoikilosis. Clin Rheumatol , 2004;23(6):505–508.
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5. Bicer A, Tursen U, Ozer C, et al – Coexistence of osteopoikilosis and discoid lupus erythematosus: a case report. Clin Rheumatol 2002; 21:405–407.
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7. Hellemans J, Debeer P, Costa T et al- Loss of function Mutation of LEMD3.Nature Genetics 2004; 36, 1213 – 1218.
8. Romero JM ,Lorente Moreno R, Ramos Salado JL,Romero Requena J(2000): Osteopoikilosis: report of 3 cases and review of the literature . An Med Interna 17(1):29-31.
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10. Chami I, Bacadi D, Alymlahi E- Osteopoikilosis. Applied Radiology. March 2007, Volume 36 (3).
11. Chigira M, Kato K, Mashio K et al -Symmetry of Bone lesions in Osteopoikilosis. Acta Orthop Scand 1991 : 62 (5): 495-496.
12. Sim E- Osteopoikilosis and fracture Healing. UnfallChirurgie , December 1989; 15 (6), 303-305.
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How to Cite This Article: Bansal R, Pathak AC, Sheth B, Patil A. Traumatic Fracture in a patient of Osteopoikilosis with review of literature. Journal of Orthopaedic Case Reports April- June 2013: 3(2);16-20. Available from: https://www.jocr.co.in/wp/2013/04/13/2250-0685-095-fulltext/ |
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