Osteopoikilosis in a young ankylosing spondylitis patient.

Osteopoikilosis (OPK) is a rare benign congenital genetic-mediated sclerosing skeletal disease, characterized by the formation of osteosclerosis foci. OPK is usually clinically asymptomatic, but some patients (15%~20%) may have arthralgia and synovitis. OPK may be associated with rheumatic diseases and might lead to unreasonable over-examination in real clinical practice. Single cases of the OPK together with ankylosing spondylitis (AS) have been described. Here we present a 33-year-old patient diagnosed with AS coexisting with OPK. In the case considered, the combination of AS and OPK accompanied with a high activity of inflammation, peripheral arthritis, a rapid rate of structural progression in axial skeleton, inefficiency of disease-modifying antirheumatic drugs and nonsteroidal anti-inflammatory drugs, a lack of response to anti interleukin-17 and a good response to a tumor necrosis factor inhibitor golimumab. We describe the important points of differential diagnosis associated with the identification of focal changes in bone tissue, especially neoplastic lesion. Foci revealed had typical localization, so, acquaintance of practicing doctors with such rare cases would minimize unnecessary examinations.

Osteopoikilosis in a patient with familial adenopolyposis : A case report.

Osteopoikilosis, a sclerosing bone dysplasia, is an asymptomatic incidental finding characterised by multiple bone islands. Although it requires no treatment there can be diagnostic uncertainty as appearances can be similar to osteoblastic metastases or metabolic disorders such as Paget disease. We present a case of osteopoikilosis in a patient with familial adenopolyposis and discuss the clinical presentation, image findings and key considerations in diagnosis of this benign entity.

A Rare Case of Hereditary Bone Dysplasia: Osteopoikilosis in a Mother and Her Son.

Osteopoikilosis (OP) is a rare genetic bone dysplasia that causes dense patches in the trabecular bone and occurs in one in 50,000 people. The exact cause is unknown, but it could be due to mutations in the LEM domain-containing gene 3. Two cases were discovered incidentally in a clinic. The first case involved the mother, a 35-year-old woman with type 2 diabetes and dyslipidemia who presented with left ankle and right forearm pain after falling downstairs. Physical examination revealed mild swelling and tenderness at the left ankle, and X-ray examination revealed multiple small sclerotic lesions. The patient was diagnosed with OP. Analgesics, ankle support, and follow-up care were provided. The second case involved the son, a 14-year-old boy who had occasional pain in his right foot. A physical examination was normal. An X-ray of the right foot showed multiple homogeneous sclerotic lesions. He was diagnosed with familial OP and given analgesics for his pain.

Osteopoikilosis-the incidental finding of a rare bone dysplasia: A case report.

Key Clinical Message: Osteopoikilosis is an asymptomatic osteosclerotic dysplasia, of autosomal dominant inheritance, which does not cause deformity or alteration in bone development, of incidental diagnosis. The differential diagnosis should be made with osteoblastic metastases, among others, especially if it is asymmetric and in patients over 50 years of age. Abstract: Osteopoikilosis is a rare benign bone disease, characterized by the appearance of bone islands in the osseous tissue, which could be confused with bone metastasis. We present the case of a 69-year-old man, in whom the presence of multiple punctate lesions spread throughout the skeleton was discovered after an accidental fall with a fracture of the T11 vertebral body complicated by acute osteomyelitis. The importance of this clinical case lies in the need to rule out neoplastic cause after the vertebral fracture, since osteopoikilosis is usually an incidental finding and the specific characteristics of the radiological image would avoid unnecessary interventions.

Osteopoikilosis: a case report.

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. CASE PRESENTATION: 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.

Buschke-Ollendorff syndrome presenting with asymptomatic yellowish papules and leg length discrepancy: A case report.

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.

Impact of a Multidisciplinary Tumor Board on the Care of Patients with Histiocytic Disorders: The Histiocytosis Working Group experience.

INTRODUCTION: Histiocytic disorders pose significant diagnostic and management challenges for the clinicians due to diverse clinical manifestations and often non-specific histopathologic findings. Herein, we report the tumor board experience from the first-of-its-kind Histiocytosis Working Group (HWG). MATERIALS AND METHODS: The HWG was established in June 2017 and consists of experts from 10 subspecialties that discuss cases in a multidisciplinary format. We present the outcome of tumor board case discussions during the first 2 years since its inception (June 2017-June 2019). RESULTS: Forty cases with a suspected histiocytic disorder were reviewed at HWG during this time period. Average number of subspecialties involved in HWG case discussion was 5 (range, 2-9). Histiocytosis Working Group tumor board recommendations led to significant changes in the care of 24 (60%) patients. These included change in diagnosis (n = 11, 27%) and change in treatment (n = 13, 33%). CONCLUSION: Our report highlights the feasibility of a multidisciplinary tumor board and its impact on outcomes of patients with histiocytic disorders.

Case report of Osteopoikilosis in patient with psoriatic arthritis.

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.

[Sclerosing hyperostotic bone disorders]. / Sklerosierende hyperostotische Skelettveränderungen.

CLINICAL/METHODICAL ISSUE: Diagnosis of sclerosing and hyperostotic bone disorders (SHS) is challenging. The correct and early identification of SHS can have therapeutic, prognostic and, in case of genetic SHS with regard to the risk of inheritance, advisory consequences. STANDARD RADIOLOGICAL METHODS: For diagnosis, radiographic examinations and supplementary computed tomography (CT) and magnetic resonance imaging (MRI) are used. These are of indicative nature. Definitive diagnosis is usually made by genetic differentiation. METHODICAL INNOVATIONS: In combination with the age of the affected person and the location of the osseous changes the characteristic image criteria are important. These are summarized in groups in this overview. PRACTICAL RECOMMENDATIONS: Projection radiography in two planes is the imaging modality of choice. CT and MR can detect additional differential diagnostic criteria and should be indicated when needed.

Osteopoikilosis with bony deformities of the right toes in a female child: Case report.

INTRODUCTION: 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. CASE PRESENTATION: 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. DISCUSSION: 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. CONCLUSION: 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.

Case Report of Osteopoikilosis: Sparse Cause of Bone Pain and Mimicker of Metastasis on Radiographs.

INTRODUCTION: 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. CASE REPORT: 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. CONCLUSION: 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.

Result of cementless total hip arthroplasty in a patient with osteopoikilosis, hip dysplasia and advanced osteoarthritis: a case report.

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.

How rare is rare? A literature survey of the last 45 years of paleopathological research on ancient rare diseases.

OBJECTIVE: This paper aims to provide a quantitative estimation of the representation of diseases defined as rare today in the bioarchaeological literature and to outline the reasons for this. MATERIALS: A 45-year bibliometric study of publications in seven bioarchaeological journals, along with two journals and editorial groups of broader scientific focus. METHODS: Analyses of distribution patterns of the search hits and diachronic trends for achondroplasia, autosomal-dominant osteopetrosis, osteogenesis imperfecta, and osteopoikilosis, compared to those for tuberculosis as control measure of coverage. RESULTS: Studies of ancient rare diseases (ARD) are mostly published as case reports in specialized journals and their number did not benefit from the introduction of biomolecular studies. The higher frequency of cases of achondroplasia suggests that not all rare diseases are equally under-represented. CONCLUSIONS: Rare diseases are still largely under-represented in bioarchaeological literature. Their marginality likely results from a combination of taphonomic, methodological and public visibility factors. SIGNIFICANCE: This article is the first attempt to provide a quantitative assessment of the under-representation of ARD and to outline the factors behind it. LIMITATIONS: Rare diseases are an etiologically heterogeneous group. The number of surveyed journals and articles, as well as targeted diseases might be limiting factors. SUGGESTIONS FOR FURTHER RESEARCH: Increasing collection and dissemination of data on ARD; opening a wide-ranging debate on their definition; implementation of biomolecular studies.

Familiar osteopoikilosis: Case report with differential diagnosis and review of the literature.

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.

Buschke-Ollendorff syndrome with LEMD3 germline stopgain mutation p.R678* presenting as multiple subcutaneous nodules with mucin deposition.

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.

Atypical Enostoses-Series of Ten Cases and Literature Review.

Bone islands (BI; enostoses) may be solitary or occur in the setting of osteopoikilosis (multiple bone islands) and are sometimes associated with Gardner's Syndrome (osteopoikilosis and colonic polyposis). Characteristic features of bone islands are (1) absence of pain or local tenderness, (2) typical radio dense central appearance with peripheral radiating spicules (rose thorn), (3) Mean CT (computerized tomography) attenuation values above 885 Hounsfield units (HU) (4) absence of uptake on bone scan and (5) radiographic stability over time. However, when enostoses display atypical features of pain, unusual radiographic appearance, aberrant HU, increased radiotracer uptake, and/or enlargement, they can be difficult to differentiate from more sinister bony lesions such as osteoblastic metastasis, low grade central osteosarcoma, osteoid osteoma and osteoblastoma. In this retrospective case series, the demographic, clinical, radiographic, treatment and outcome for ten patients with eleven atypical bone islands (ABI) are presented, some showing associated pain (5), some with atypical radiographic appearance (3), some with increased activity on BS (4), some with documented enlargement over time (7), one with abnormal CT attenuation value, some in the setting of osteopoikilosis (2), one in the setting of Gardner's Syndrome and one osteoid osteoma simulating a bone island. This series represents the spectrum of presentations of ABI. Comprehensive review of the literature reveals that the previous largest series of ABI showing enlargement as the atypical feature was in younger patients with jaw BI. Hence, this represents one of the largest series reported of ABI of all types in adults.

Small Cell Prostate Cancer with Atypical Presentation -A Case Report and Review of Literature.

INTRODUCTION: 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. CASE REPORT: 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. CONCLUSION: 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.

Modeling-based bone formation transforms trabeculae to cortical bone in the sclerotic areas in Buschke-Ollendorff syndrome. A case study of two females with LEMD3 variants.

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.