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BMC Musculoskeletal Disorders Apr 2021Osteopoikilosis (OPK) is a rare benign sclerosing bone dysplasia and is often incidentally found on plain radiography. OPK generally does not require treatment....
BACKGROUND
Osteopoikilosis (OPK) is a rare benign sclerosing bone dysplasia and is often incidentally found on plain radiography. OPK generally does not require treatment. Nevertheless, osteonecrosis or degenerative joint disease can occur in the setting of OPK, and little is known with regard to the longevity of arthroplasty prostheses implanted into OPK-bearing bones.
CASE PRESENTATION
A 55-year-old male presented with progressive right hip pain in 2012. He was diagnosed with coexisting osteopoikilosis and developmental dysplasia of the right hip with advanced osteoarthritis after a series of imaging studies including radiographs, magnetic resonance imaging (MRI), and bone scan. A cementless total hip arthroplasty was performed to treat his right hip pain. Radiographs at eight-year follow-up showed the prosthetic components were well-fixed. Harris hip score of the patient's right hip was 93. The patient can walk without assistance and work as a construction worker.
CONCLUSION
Cementless arthroplasty can be considered in patients with hip arthropathies and co-existing osteopoikilosis. Continued follow-up is required to establish the long-term results.
Topics: Arthroplasty, Replacement, Hip; Follow-Up Studies; Hip Dislocation; Hip Dislocation, Congenital; Hip Prosthesis; Humans; Male; Middle Aged; Osteoarthritis, Hip; Osteopoikilosis; Treatment Outcome
PubMed: 33888114
DOI: 10.1186/s12891-021-04258-w -
Medical Journal, Armed Forces India Apr 2013
PubMed: 24600101
DOI: 10.1016/j.mjafi.2012.05.009 -
European Journal of Human Genetics :... Sep 2009In their studies on the molecular basis of osteopoikilosis, Menten et al have identified three individuals with microdeletions on chromosome 12q14.4, which removed...
In their studies on the molecular basis of osteopoikilosis, Menten et al have identified three individuals with microdeletions on chromosome 12q14.4, which removed several genes including LEMD3, the osteopoikilosis gene. In addition to osteopoikilosis, affected individuals had growth retardation and developmental delay. We now report a smaller 12q14.4 microdeletion in a boy with severe pre and postnatal growth failure, and mild developmental delay; the patient was small at birth and presented with poor feeding and failure to thrive during the first 2 years of life, similar to the phenotype of primordial dwarfism or severe Silver-Russell syndrome (SRS). The 12q14 deletion did not include LEMD3, and no signs of osteopoikilosis were observed on skeletal radiographs. Among the deleted genes, HMGA2 is of particular interest in relationship to the aberrant somatic growth in our patient, as HMGA2 variants have been linked to stature variations in the general population and loss of function of Hmga2 in the mouse results in the pygmy phenotype that combines pre and postnatal growth failure, with resistance to the adipogenic effect of overfeeding. Sequencing of the remaining HMGA2 allele in our patient showed a normal sequence, suggesting that HMGA2 haploinsufficiency may be sufficient to produce the aberrant growth phenotype. We conclude that the 12q14.4 microdeletion syndrome can occur with or without deletion of LEMD3 gene; in LEMD3-intact cases, the phenotype includes primordial short stature and failure to thrive with moderate developmental delay, but osteopoikilosis is absent. Such cases will likely be diagnosed as Silver-Russell-like or as primordial dwarfism.
Topics: Abnormalities, Multiple; Child, Preschool; Chromosome Deletion; Chromosomes, Human, Pair 12; Comparative Genomic Hybridization; Developmental Disabilities; Growth Disorders; Humans; Karyotyping; Male; Osteopoikilosis; Syndrome
PubMed: 19277063
DOI: 10.1038/ejhg.2009.27 -
Clinical Case Reports Jan 2022Osteopoikilosis (OPK) is one of the rare genetic musculoskeletal, non-inflammatory disorders that we should increase awareness toward. We report a case of a patient...
Osteopoikilosis (OPK) is one of the rare genetic musculoskeletal, non-inflammatory disorders that we should increase awareness toward. We report a case of a patient diagnosed with psoriatic arthritis with incidental imaging findings of lesions suggestive of osteopoikilosis.
PubMed: 35059199
DOI: 10.1002/ccr3.5263 -
Reumatologia Clinica 2010
PubMed: 21794706
DOI: 10.1016/j.reuma.2009.03.005 -
ARP Rheumatology 2022
Topics: Bone Diseases; Humans; Osteopoikilosis; Radiography
PubMed: 35810377
DOI: No ID Found -
Journal of Musculoskeletal & Neuronal... Jun 2022Buschke-Ollendorff syndrome (BOS) is a rare, usually benign, autosomal dominant genetic disease affecting about 0.005% globally. BOS commonly manifests with asymptomatic...
Buschke-Ollendorff syndrome (BOS) is a rare, usually benign, autosomal dominant genetic disease affecting about 0.005% globally. BOS commonly manifests with asymptomatic connective tissue nevi, sometimes with sclerotic bone lesions like osteopoikilosis or melorheostosis. However, BOS may develop severe, symptomatic complications that require surgical intervention. Here we report a 9-year-8-month girl presenting with multiple nonpruritic, nonpainful skin plaques scattered around the trunk, buttocks, and bilateral legs. She had a history of right varus foot with inadequate plantar flexion. Upon visiting, obvious leg length discrepancy (LLD) was noted. Lesional biopsy revealed increased fibroblasts within dermal collagen bundles. Verhoeff-van Gieson stain revealed scattered foci of thickened elastic fibers between collagen fibers, especially in the mid-dermis. Radiographic examination of the lower extremities showed multiple small, round-to-oval shaped, radiopaque spots on the pelvic bones, femurs, tibiae, and both feet. Hyperostosis along the long axis with "dripping candle wax" appearance was characteristic of osteopoikilosis and melorheostosis. Genetic analysis showed heterozygous point mutation in exon 1 of LEMD3 gene (c.1323C>A, p.Y441X), confirming diagnosis of BOS. Sequential and epiphyseodesis were performed to correct LLD with a favorable outcome at 2-year follow-up. BOS associated with severe bone abnormalities is rare, but orthopedic surgical intervention can provide satisfactory outcome.
Topics: Child; Collagen; Female; Humans; Leg; Melorheostosis; Osteopoikilosis; Skin Diseases, Genetic
PubMed: 35642708
DOI: No ID Found -
CMAJ : Canadian Medical Association... Mar 2011
Review
Topics: Diagnosis, Differential; Female; Humans; Osteopoikilosis; Radiography
PubMed: 21242270
DOI: 10.1503/cmaj.091740 -
BJR Case Reports 2018In patients with breast cancer, the appearance of sclerotic bone lesions on imaging should raise the suspicion of skeletal metastases. However, before making the...
In patients with breast cancer, the appearance of sclerotic bone lesions on imaging should raise the suspicion of skeletal metastases. However, before making the diagnosis it is important to consider the clinical context and remember that there are conditions that can mimic bone metastasis. We present two cases of mimics of bone metastasis: systemic mastocytosis and osteopoikilosis. These cases demonstrate clinical and radiological characteristics that would make a diagnosis of bone metastasis less likely, and highlight the need for an awareness of mimics of bone metastasis.
PubMed: 30363150
DOI: 10.1259/bjrcr.20170091 -
Journal of Radiology Case Reports 2009Osteopoikilosis presents as round or ovoid sclerotic lesions with an appearance like enostosis on pathology. Synovial osteochondromatosis occurs due to cartilaginous...
Osteopoikilosis presents as round or ovoid sclerotic lesions with an appearance like enostosis on pathology. Synovial osteochondromatosis occurs due to cartilaginous metaplasia with synovial villous proliferation with calcified nodules in proximity to joints. A case of osteopoikilosis associated with synovial osteochondromatosis is described. Intraosseus and juxta osseus sclerotic bone lesions were identified on radiographs and computed tomography in a patient with knee pain. The association of osteopoikilosis with synovial osteochondromatosis is rare and to our knowledge has received little attention in the literature.
PubMed: 22470645
DOI: 10.3941/jrcr.v3i3.138