Heterozygous FGFR1 mutation may be responsible for an incomplete form of osteoglophonic dysplasia, characterized only by radiolucent bone lesions and teeth retentions

SummaryCases of cystic bone lesions in horses and humans were reviewed in the literature. These lesions are radiolucent areas of bone, recognized as subchondral cystic lesions in the horse (SCL), intra-osseous ganglia (IOG), subchondral bone cysts secondary to osteoarthrosis (OAC), and unicameral bone cysts (UCB) in humans. Their morphology is quite similar, consisting of lesions with a distinct cyst wall, and a cavity filled with fibrous tissue and yellowish mucoid fluid. The lesions are surrounded by sclerotic bone and can be easily diagnosed radiographically. SCL, IOG and OAC occur in the subchondral bone close to the adjacent joint, whereas UCB occur in the metaphysis of long bones. Their aetiology and pathogenesis is still unknown, although primary damage to the subchondral bone, cartilage or local blood supply and growth disturbances are discussed. In this review 703 lesions of SCL in horses, 289 lesions of IOG and 1460 lesions of UCB in humans were compared in their anatomical location and clinical signs. SCL and OAC resembled each other with respect to anatomical location. A correlation of affected bones could not be found for all four groups. Clinical presentation concerning age was most similar for SCL and UCB with both lesions mainly occurring in young individuals. Gender predominance of males was present in SCL, IOG and UCB. Clinical diagnosis was either incidental, or connected with intermittent pain in all lesions except for OAC. Additionally, the lesions were also found in conjunction with degenerative joint disease (SCL, OAC) or pathological fractures (UCB). Cystic bone lesions were either treated conservatively, surgically with curettage alone, curettage in combination with grafting procedures, or intra-lesional application of corticosteroids. SCL and UCB were similar in their biological behaviour concerning their slow response to the therapy and relatively high recurrence rate. None of the cystic bone lesions were comparable, and a common aetiology and pathogenesis could not be found.In a literature review cases of cystic bone lesions in horses and humans were compared with the goal to find a common aetiology and pathogenesis. Cystic bone lesions occur in horses as subchondral cystic lesions (SCL), and in humans as either intra-osseous ganglia (IOG), subchondral cystic lesions secondary to osteoarthrosis (OAC) or unicameral bone cysts (UCB). IOG and OAC compare with SCL mainly in the anatomical location. IOG and SCL resemble each other in size, clinical signs and histology, whereas UCB and SCL show a similar biological behaviour regarding their therapeutic response and recurrence rate. None of the cystic bone lesions in humans were comparable to the SCL in horses in all aspects. A common aetiology and pathogenesis could not be established.

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Age- and sex-related bone uptake of Tc-99m-HDP measured by whole-body bone scanning

Nuklearmedizin ◽

10.1055/s-0038-1632258 ◽

2000 ◽

Vol 39 (05) ◽

pp. 127-132 ◽

Cited By ~ 2

Author(s):

Nicole Sieweke ◽

K. H. Bohuslavizki ◽

W. U. Kampen ◽

M. Zuhayra ◽

M. Clausen ◽

...

Keyword(s):

Whole Body ◽

Bone Lesions ◽

Men And Women ◽

Bone Uptake ◽

Normal Bone ◽

Age Related ◽

Number Of Patients ◽

Wide Range ◽

Bone Scans ◽

Body Bone

Summary Aim of this study was to validate a recently introduced new and easy-to-perform method for quantifying bone uptake of Tc-99m-labelled diphosphonate in a routine clinical setting and to establish a normal data base for bone uptake depending on age and gender. Methods: In 49 women (14-79 years) and 47 men (6-89 years) with normal bone scans as well as in 49 women (33-81 years) and 37 men (27-88 years) with metastatic bone disease whole-body bone scans were acquired at 3 min and 3-4 hours p.i. to calculate bone uptake after correction for both urinary excretion and soft tissue retention. Results: Bone uptake values of various age-related subgroups showed no significant differences between men and women (p >0.05 ). Furthermore, no differences could be proven between age-matched subgroups of normals and patients with less than 10 metastatic bone lesions, while patients with wide-spread bone metastases revealed significantly increased uptake values. In both men and women highest bone uptake was obtained (p <0.05 ) in subjects younger than 20 years with active epiphyseal growth plates. In men, bone uptake slowly decreased with age up to 60 years and then showed a tendency towards increasing uptake values. In women, the mean uptake reached a minimun in the decade 20-29 years and then slowly increased with a positive linear correlation of age and uptake in subjects older than 55 years (r = 0.57). Conclusion: Since the results proposed in this study are in good agreement with data from literature, the new method used for quantification could be validated in a large number of patients. Furthermore, age- and sexrelated normal bone uptake values of Tc-99m-HDP covering a wide range of age could be presented for this method as a basis for further studies on bone uptake.

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A teenager with recurrent fractures and multiple bone lesions: a diagnostic challenge

Bone Abstracts ◽

10.1530/boneabs.7.p224 ◽

2019 ◽

Author(s):

Sumudu Nimali Seneviratne ◽

Piumi Kuruppu

Keyword(s):

Bone Lesions ◽

Diagnostic Challenge

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A family with Kallmann syndrome due to a novel FGFR1 mutation

Endocrine Abstracts ◽

10.1530/endoabs.56.p726 ◽

2018 ◽

Author(s):

Ana Sousa Martins ◽

Louise Gregory ◽

Mehul Dattani

Keyword(s):

Kallmann Syndrome ◽

Fgfr1 Mutation

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Bone disease as the first manifestation of systemic AL-amyloidosis

Terapevticheskii arkhiv ◽

10.26442/00403660.2020.07.000775 ◽

2020 ◽

Vol 92 (7) ◽

pp. 85-89

Author(s):

L. P. Mendeleeva ◽

I. G. Rekhtina ◽

A. M. Kovrigina ◽

I. E. Kostina ◽

V. A. Khyshova ◽

...

Keyword(s):

Multiple Myeloma ◽

Bone Marrow ◽

Bone Disease ◽

Plasma Cells ◽

Interventricular Septum ◽

Bone Destruction ◽

Amyloid Deposition ◽

Bone Lesions ◽

Al Amyloidosis ◽

Linear Type

Our case demonstrates severe bone disease in primary AL-amyloidosis without concomitant multiple myeloma. A 30-year-old man had spontaneous vertebral fracture Th8. A computed tomography scan suggested multiple foci of lesions in all the bones. In bone marrow and resected rib werent detected any tumor cells. After 15 years from the beginning of the disease, nephrotic syndrome developed. Based on the kidney biopsy, AL-amyloidosis was confirmed. Amyloid was also detected in the bowel and bone marrow. On the indirect signs (thickening of the interventricular septum 16 mm and increased NT-proBNP 2200 pg/ml), a cardial involvement was confirmed. In the bone marrow (from three sites) was found 2.85% clonal plasma cells with immunophenotype СD138+, СD38dim, СD19-, СD117+, СD81-, СD27-, СD56-. FISH method revealed polysomy 5,9,15 in 3% of the nuclei. Serum free light chain Kappa 575 mg/l (/44.9) was detected. Multiple foci of destruction with increased metabolic activity (SUVmax 3.6) were visualized on PET-CT, and an surgical intervention biopsy was performed from two foci. The number of plasma cells from the destruction foci was 2.5%, and massive amyloid deposition was detected. On CT scan foci of lesions differed from bone lesions at multiple myeloma. Bone fragments of point and linear type (button sequestration) were visualized in most of the destruction foci. The content of the lesion was low density. There was no extraossal spread from large zones of destruction. There was also spontaneous scarring of the some lesions (without therapy). Thus, the diagnosis of multiple myeloma was excluded on the basis based on x-ray signs, of the duration of osteodestructive syndrome (15 years), the absence of plasma infiltration in the bone marrow, including from foci of bone destruction by open biopsy. This observation proves the possibility of damage to the skeleton due to amyloid deposition and justifies the need to include AL-amyloidosis in the spectrum of differential diagnosis of diseases that occur with osteodestructive syndrome.

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CRYOSURGERY IN THE TREATMENT OF PATIENTS WITH BONE TUMORS

Problems in oncology ◽

10.37469/0507-3758-2019-65-2-165-171 ◽

2019 ◽

Vol 65 (2) ◽

pp. 165-171

Author(s):

Aleksey Belyaev ◽

Georgiy Prokhorov ◽

Anna Arkhitskaya

Keyword(s):

Liquid Nitrogen ◽

Bone Tumors ◽

Cryogenic Treatment ◽

Long Term Results ◽

Bone Lesions ◽

Giant Cell Tumors ◽

Primary Bone Tumors ◽

Circulation Circuit ◽

Recent Emergence ◽

Primary Bone

A review of the literature shows that surgical procedures will remain the standard treatment for primary bone tumors. Analysis of studies on the assessment of long-term results shows that additional double cryogenic treatment of the curettage cavity can improve the treatment outcomes of patients with giant cell tumors, dysplastic diseases and some forms of malignant lesions. The traditional execution of the procedure is associated with the open installation of liquid nitrogen in the bone cavity, which requires special skills in handling aggressive refrigerant from the staff and does not exclude complications. In case of multiple metastatic bone lesions, surgical treatment is not indicated. The recent emergence in clinical practice of new equipment with a closed liquid nitrogen circulation circuit inside cryoprobes resumes interest in cryoabla-tion of bone tumor lesions using modern minimally invasive puncture cryotechnology and expanding indications for its use in patients with severe comorbidities.

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Musculoskeletal Manifestations of Sarcoidosis: A Review Article

Current Rheumatology Reviews ◽

10.2174/1573397114666180425111901 ◽

2019 ◽

Vol 15 (2) ◽

pp. 83-89 ◽

Cited By ~ 4

Author(s):

Somayeh Shariatmaghani ◽

Roshanak Salari ◽

Maryam Sahebari ◽

Payman Shalchian Tabrizi ◽

Masoumeh Salari

Keyword(s):

Treatment Options ◽

Immunosuppressive Drugs ◽

Bone Lesions ◽

Symptomatic Management ◽

Muscular Disease ◽

Initial Symptoms ◽

Skeletal Complications ◽

Musculoskeletal Manifestations ◽

Fdg Pet Ct ◽

Musculoskeletal Involvement

Background: Sarcoidosis is a multisystem inflammatory disease with an etiology that is not clearly understood. Amongst the different organs that may be affected, the lungs are the most common. Musculoskeletal manifestations of the disease are uncommon. Objectives: They include arthropathy, bone lesions, or myopathy, all of which may occur as initial symptoms or develop during the course of the disease. Methods: : Articular involvement my present as arthralgia or arthritis. Skeletal complications usually develop in the chronic state of the disease. Muscular disease is rare and usually asymptomatic. Appropriate imaging modalities including X-ray, MRI, FDG-PET/CT assist in the diagnosis of rheumatic sarcoidosis. However, biopsy is necessary for definite diagnosis. Result and Conclusion: In most cases of musculoskeletal involvement, NSAIDs and corticosteroids are sufficient for symptomatic management. For more resistant cases immunosuppressive drugs (i.e., methotrexate) and TNF- inhibitors are used. Our aim is to review various types of musculoskeletal involvement in sarcoidosis and their existing treatment options.

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Petrous bone lesions: surgical implementation and outcomes of extradural subtemporal approach

Acta Neurochirurgica ◽

10.1007/s00701-021-04962-5 ◽

2021 ◽

Author(s):

Udom Bawornvaraporn ◽

Ali R. Zomorodi ◽

Allan H. Friedman ◽

Takanori Fukushima

Keyword(s):

Petrous Bone ◽

Bone Lesions ◽

Subtemporal Approach

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