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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 -
International Journal of Rheumatic... Jun 2019
Topics: Anti-Inflammatory Agents; Female; Humans; Osteopoikilosis; Spondylitis, Ankylosing; Young Adult
PubMed: 31087523
DOI: 10.1111/1756-185X.13594 -
Clinical Case Reports Feb 2021Osteopoikilosis (OP) is a rare autosomal dominant sclerosing bone disease, caused by heterozygous mutations in the LEMD3 gene. It is characterised by numerous focal...
Osteopoikilosis (OP) is a rare autosomal dominant sclerosing bone disease, caused by heterozygous mutations in the LEMD3 gene. It is characterised by numerous focal lamellar bone compact deposits in the spongiosa. In this case report, we describe a famliar case of OP and review the literature.
PubMed: 33598273
DOI: 10.1002/ccr3.3611 -
ARP Rheumatology 2022
Topics: Bone Diseases; Humans; Osteopoikilosis; Radiography
PubMed: 35810377
DOI: No ID Found -
Journal of Cutaneous Pathology Jan 2021Buschke-Ollendorff syndrome (BOS; OMIM 166700) is a rare autosomal dominant disorder characterized by the existence of connective tissue nevus and/or osteopoikilosis....
Buschke-Ollendorff syndrome (BOS; OMIM 166700) is a rare autosomal dominant disorder characterized by the existence of connective tissue nevus and/or osteopoikilosis. The skin lesions usually present as firm, yellow, or flesh-colored papules and nodules, which may coalesce into plaques and increase in size and number over time. We present a case of a 26-year-old male with multiple subcutaneous nodules on the waist and thigh for more than 20 years. Being deeply seated, his skin lesions were not visible and could only be appreciated by palpation. Accordingly, pathology showed an increase in thick, crossed, or paralleled, elastic fibers arranged between the collagen bundles in the lower part of the reticular dermis and the subcutaneous fat with mucin deposition. Heterozygous point mutation in exon 8 of the LEMD3 gene was detected, which confirmed the diagnosis of BOS. The deeply situated nature of skin lesions noted in our case has not been reported in the literature of BOS. Our case thus expands the clinical and pathological features of the disease.
Topics: Adult; DNA-Binding Proteins; Germ-Line Mutation; Humans; Male; Membrane Proteins; Mucins; Osteopoikilosis; Skin Diseases, Genetic; Subcutaneous Tissue
PubMed: 32519343
DOI: 10.1111/cup.13771 -
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 -
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 -
Acta Reumatologica Portuguesa 2019Osteopoikilosis (OPK) is a rare, hereditary, usually asymptomatic disease characterized by the presence of multiple, well-defined sclerotic lesions distributed in...
Osteopoikilosis (OPK) is a rare, hereditary, usually asymptomatic disease characterized by the presence of multiple, well-defined sclerotic lesions distributed in peri-articular locations, frequently diagnosed as an incidental finding. Differential diagnosis with osteoblastic metastases is fundamental. This article reports six cases of OPK diagnosed in Portuguese Rheumatology Centers.
Topics: Adult; Bone and Bones; Female; Humans; Male; Osteopoikilosis; Portugal; Rheumatology; Tomography, X-Ray Computed; Young Adult
PubMed: 31249279
DOI: No ID Found -
Rheumatology (Oxford, England) Nov 2019
Topics: Arthritis, Psoriatic; Diagnosis, Differential; Female; Humans; Middle Aged; Osteopoikilosis; Sacroiliitis
PubMed: 31323675
DOI: 10.1093/rheumatology/kez084 -
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