Osteopoikilosis

骨质疏松
  • 文章类型: Case Reports
    背景:骨质疏松,也被称为播散性凝聚骨病,斑点骨病,或者是骨膜炎,是一种罕见的骨骼疾病.这里介绍的病例显示了脊柱的多个椎间盘病变,广泛的多灶性皮肤病变,皮肌炎和多灶性囊炎的阳性检测结果,伴有神经症状.这种表现代表了该疾病的新变体。
    方法:我们的病人是一名46岁的清真寺库尔德仆人,主诉右腿疼痛,下背部,右手,和脖子。此外,患者右臀部和同侧大腿发红,在过去的3周内,左胫骨上的皮肤病变逐渐扩大和变硬。在右腿中也观察到疼痛的颈部运动和阳性的Lasegue测试。患者报告右臀部疼痛,伴有大量红斑,硬结8×15厘米,以及左侧胫骨上6×18厘米的红斑和斑丘疹性病变。
    结论:我们的患者是一名46岁的男性,表现为皮肤损伤和下背部疼痛,骨盆,脖子,和四肢。X光显示了肩膀,骨盆,膝盖,脚踝受累,而在颈部和腰部观察到脊柱受累。此外,骨扫描显示不同区域广泛的末端病变,以前在类似病例中未报道的独特表现。
    BACKGROUND: Osteopoikilosis, also referred to as disseminated condensing osteopathy, spotted bone disease, or osteopecilia, is a rare bone disorder. The case presented here showcases multiple disc lesions in the spine, extensive multifocal skin lesions, and positive test results for dermatomyositis and multifocal enthesopathy, accompanied by neurological symptoms. This manifestation represents a novel variant of the disease.
    METHODS: Our patient is a 46-year-old mosque Kurdish servant presenting with complaints of pain in the right leg, lower back, right hand, and neck. Additionally, the patient has been experiencing redness in the right buttock and ipsilateral thigh, as well as gradually expanding and stiffening skin lesions on the left shin for the past 3 weeks. Painful neck movements and a positive Lasegue test were also observed in the right leg. The patient reports pain in the right buttock accompanied by a substantial erythematous area with induration measuring 8 × 15 cm, as well as an erythematous and maculopapular lesion measuring 6 × 18 cm on the left shin.
    CONCLUSIONS: Our patient is a 46-year-old man presenting with complaints of skin lesions and pain in the lower back, pelvis, neck, and limbs. The X-ray reveals shoulder, pelvis, knee, and ankle involvement, while spinal involvement is observed in the neck and lumbar region. Furthermore, the bone scan indicates extensive enthesopathy in various regions, a unique manifestation not previously reported in similar cases.
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    文章类型: Case Reports
    Buschke-Ollendorff综合征(BOS)是一种罕见的,通常是良性的,常染色体显性遗传病影响全球约0.005%。BOS通常表现为无症状结缔组织痣,有时伴有骨硬化病,如骨硬化病或骨硬化。然而,BOS可能发展得很严重,需要手术干预的症状性并发症。在这里,我们报告了一个9岁8个月的女孩,表现为多个非瘙痒,无痛的皮肤斑块散布在躯干周围,臀部,和双侧腿。她有右足内翻病史,足底屈曲不足。参观时,注意到明显的腿长差异(LLD)。病变活检显示真皮胶原蛋白束内的成纤维细胞增加。Verhoeff-vanGieson染色显示胶原纤维之间的增厚弹性纤维分散灶,尤其是在真皮中部。下肢的射线照相检查显示多个小,圆形到椭圆形,骨盆骨头上的不透射线的斑点,股骨,胫骨,和两只脚。沿长轴的骨肥大与“滴下的蜡烛蜡”外观是骨质疏松和骨髓增生的特征。遗传分析显示LEMD3基因外显子1杂合点突变(c.1323C>A,p.Y441X),确认BOS的诊断。在2年的随访中,进行了序贯和骨phy固定术以纠正LLD,结果良好。与严重骨异常相关的BOS很少见,但是骨科手术干预可以提供令人满意的结果。
    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.
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  • 文章类型: Case Reports
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  • 文章类型: Case Reports
    骨质疏松(OPK)是一种罕见的遗传性肌肉骨骼,我们应该提高对非炎症性疾病的认识。我们报告了一例被诊断为牛皮癣性关节炎的患者,其附带的影像学表现提示有骨形成病。
    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.
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  • 文章类型: Journal Article
    背景:骨质疏松症(OPK)是一种极其罕见的良性疾病,伴有硬化性骨发育不良和多发性良性结瘤。OPK通常无症状,通常是不相关疾病的影像学检查的偶然发现。
    方法:我们介绍了一例7岁女性外翻患者的OPK,右脚第二和第三跖骨的缩短和畸形。这些异常在X线成像的临床表现上观察到,骨polikilosjs经组织病理学证实。畸形接受手术治疗,对患者的病情随访3个月,直到患者行走并取出石膏。
    结论:OP是一种罕见的,很少引起骨畸形的良性疾病。它被诊断为临床和影像学检查,所以畸形只能通过手术治疗。随访对于评估肢体的运动是必要的。
    结论:可以添加到医学文献中的独特之处在于,骨质疏松可能在早期引起骨畸形。
    BACKGROUND: Osteopoikilosis (OPK) is an extremely rare benign condition with sclerosing bony dysplasia and multiple benign enostoses. OPK is usually asymptomatic and is typically an incidental finding on imaging studies for unrelated conditions.
    METHODS: We presented a case of OPK in a 7-year-old female with hallux valgus, shortening and deformity of second and third metatarsals in the right foot. These abnormalities were observed on clinical findings with X-ray imaging, and osteopoikilosjs was confirmed by histopathology. The deformities were treated with surgical intervention, and the patient\'s condition was followed for 3 months until the patient walked and removed the gypsum.
    CONCLUSIONS: OP is a rare, benign disease that rarely causes bony deformities. It is diagnosed clinically and radiographically, so that the deformities are treated only surgically. Follow-up is necessary to assess the movement of the limb.
    CONCLUSIONS: The distinctive thing that can be added to the medical literature is that it is possible for osteopoikilosis to cause bone deformities at an early age.
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  • 文章类型: Case Reports
    骨质疏松症(OPK)是一种极为罕见的良性疾病,具有常染色体显性遗传,其特征是硬化性骨发育不良伴多发良性骨结球。它的特点是对称分布众多,小,定义明确,均匀的圆形或卵圆形的放射性密度聚集在关节周围区域的长骨的骨phy和干is端。在某些情况下,弥漫性存在于整个轴向和附肢骨骼中。没有年龄和性别偏好;诊断时的年龄范围为15至60岁。它通常是无症状的,但很少在15-20%的患者中可以看到轻微的并关节疼痛和关节积液。这些是大多数病例的附带放射学发现,有时也混淆为骨转移。没有特定的临床特征;组织学特征与骨岛相似,可能与结缔组织疾病有关。滑膜骨软骨瘤病,和一种罕见的骨骼畸形。
    我们介绍了一名32岁男性双侧髋部和肩部疼痛的OPK病例,根据现有文献并关注临床意义,由于其模仿其他更严重的疾病如骨转移和骨痛的极其罕见的原因的能力。
    OPK是一种罕见的遗传性疾病,涉及长骨的近接区域,具有复杂的病因,经常在射线照片上偶然发现。它的特点是多重,对称卵形放射密度,在大多数情况下与成骨细胞转移混淆。这得出结论,OPK是一个应该记住的条件,以避免误诊,特别是成骨细胞转移和过度困扰患者和医生。
    UNASSIGNED: Osteopoikilosis (OPK) is an extremely rare benign condition with autosomal dominant inheritance characterized by sclerosing bony dysplasia with multiple benign enostoses. It is characterized by symmetrically distributed numerous, small, well-defined, homogenous circular or ovoid radiodensities clustered in epiphysis and metaphysis of long bones in periarticular region, and in some cases diffusely present throughout axial and appendicular skeleton. There is no age and sex predilection; age at the time of diagnosis ranges from 15 to 60 years. It is usually asymptomatic but rarely in 15-20% patients slight juxta-articular pain and joint effusions can be seen. These are incidental radiological findings in most of the cases, also sometimes confused as bony metastasis. There are no specific clinical features; histological features are similar to bony island and it may be associated with connective tissue disorders, synovial osteochondromatosis, and a rare bone condition melorheostosis.
    UNASSIGNED: We present a case of OPK in a 32-year-old male with bilateral hip and shoulder pain, based on the available literature and focus on clinical significance, due to its mimicking capability of other more severe conditions such as bone metastases and an extremely uncommon cause of bone pain.
    UNASSIGNED: OPK is an uncommon hereditary condition involving juxta-articular region of long bones with intricate etiopathogenesis, often discovered incidentally on radiographs. It is characterized by multiple, symmetrical ovoid radiodensities, and in most instances confused with osteoblastic metastasis. This concludes that OPK is a condition that should be kept in mind to avoid misdiagnosis, in particular osteoblastic metastasis and undue distress to both the patients and doctors.
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  • 文章类型: Case Reports
    背景:骨质疏松(OPK)是一种罕见的良性硬化性骨发育不良,通常在X线平片上偶然发现。OPK通常不需要治疗。然而,骨坏死或退行性关节病可发生在OPK的设置,关于植入OPK骨的关节成形术假体的寿命知之甚少。
    方法:一名55岁男性患者于2012年出现进行性右髋部疼痛。经过一系列影像学检查,包括X光片,他被诊断为并发骨质疏松和右髋关节发育异常伴晚期骨关节炎,磁共振成像(MRI),和骨骼扫描。进行了无骨水泥全髋关节置换术以治疗他的右髋关节疼痛。8年随访的射线照片显示假体组件固定良好。患者右髋关节Harris评分为93分。患者可以在没有帮助的情况下行走,并作为建筑工人工作。
    结论:对于合并有骨质疏松的髋关节病变患者,可以考虑进行无骨水泥置换。需要继续采取后续行动,以确定长期结果。
    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.
    METHODS: 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.
    CONCLUSIONS: 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.
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  • 文章类型: Case Reports
    骨质疏松症(OP)是一种罕见的常染色体显性遗传性硬化性骨疾病,由LEMD3基因的杂合突变引起。它的特征是在海绵状区有许多局灶性板层骨致密沉积物。在这个案例报告中,我们描述了一个著名的OP病例并回顾了文献。
    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.
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  • 文章类型: Case Reports
    UNASSIGNED: Prostate cancer is one of the leading causes of death due to carcinoma in developed countries due to metastasis. Most of the patient at the time of diagnosis has shown metastasis. Metastasis to bone leads to various skeletal-related events such as fracture and neural compression leading to increase morbidity in such patients. An early diagnosis leads to favorable outcomes. Skeletal metastasis is usually presented as osteoblastic localized lesion in the spine or pelvis. Here, we like to present a case of prostatic metastasis in a patient with widespread metastasis making the diagnosis in such condition a challenging issue.
    UNASSIGNED: A 61-year-old male comes with a complaint of right hip pain who has been diagnosed in some other clinic as a case of osteopoikilosis after an X-ray of the pelvis with both hips. However, on the further skeletal analysis found to involve most of the skeletal system with the diffuse osteolytic lesion. A bone scan, lab investigations helped in the arrival of diagnosis of atypical prostatic metastasis.
    UNASSIGNED: Prostate cancer is less likely to present as widespread osteolytic lesions. A very few case reports have been found in the literature regarding such presentation. This case demonstrates how to differentiate between metastasis and other common condition showing such presentation leading to an early diagnosis and thus improving the overall mortality and morbidity of the patients.
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  • 文章类型: Journal Article
    Buschke-Ollendorff syndrome is a rare autosomal dominant condition caused by pathogenic variants in LEMD3 and characterized by connective tissue nevi and sclerotic bone abnormalities known as osteopoikilosis. The bone phenotype in Buschke-Ollendorff syndrome including osteopoikilosis remains unclear. We investigated bone turnover markers, pelvis and crura X-rays; lumbar spine and femoral neck DXA; bone activity by NaF-PET/CT, bone structure by μCT and dynamic histomorphometry in adults with Buschke-Ollendorff syndrome. Two women aged 25 and 47 years with a BMI of 30 and 32 kg/m2, respectively, were included in the investigation. Bone turnover markers were within normal range. aBMD Z-scores were comparable to that of controls in the lumbar spine and increased at the hip. Radiographies exposed spotted areas in crura and pelvis, and NaF-PET/CT exposed abnormal pattern of irregular shaped NaF uptake in the entire skeleton. In both biopsies, μCT showed trabecular structure comparable to that of controls with stellate shaped sclerotic noduli within the cavity and on the endocortex. Histomorphometric analyses of the sclerotic lesions revealed compact lamellar bone with a normal bone remodeling rate, but partly replaced by modeling-based bone formation. Woven bone was not observed in the nodules. Therefore, while bone turnover and BMD were largely within normal reference range in patients with the Buschke-Ollendorff syndrome, osteosclerotic lesions appear to emerge due to modeling-based bone formation with secondary bone remodeling. These observations indicate that LEMD3 may be important for the activation of bone lining cells leading to modeling-based bone formation.
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