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Journal of Medical Case Reports Jul 2023Osteopoikilosis, also referred to as disseminated condensing osteopathy, spotted bone disease, or osteopecilia, is a rare bone disorder. The case presented here...
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.
Topics: Male; Humans; Middle Aged; Osteopoikilosis; Enthesopathy; Tomography, X-Ray Computed; Leg; Bone Diseases; Lumbosacral Region
PubMed: 37434212
DOI: 10.1186/s13256-023-04025-6 -
Medicina 2023
Topics: Humans; Osteopoikilosis; Incidental Findings; Radiography
PubMed: 38117729
DOI: No ID Found -
Medicina (Kaunas, Lithuania) Oct 2020Bone islands (BI; enostoses) may be solitary or occur in the setting of osteopoikilosis (multiple bone islands) and are sometimes associated with Gardner's Syndrome... (Review)
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.
Topics: Adult; Bone Diseases; Bone Neoplasms; Humans; Retrospective Studies; Tomography, X-Ray Computed
PubMed: 33065973
DOI: 10.3390/medicina56100534 -
International Journal of Paleopathology Jun 2021This paper aims to provide a quantitative estimation of the representation of diseases defined as rare today in the bioarchaeological literature and to outline the... (Review)
Review
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.
Topics: Bibliometrics; Humans; Paleopathology; Rare Diseases
PubMed: 33813348
DOI: 10.1016/j.ijpp.2021.03.003 -
The British Journal of Radiology Jun 2016There is a wide variety of hereditary and non-hereditary bone dysplasias, many with unique radiographic findings. Hereditary bony dysplasias include osteopoikilosis,... (Review)
Review
There is a wide variety of hereditary and non-hereditary bone dysplasias, many with unique radiographic findings. Hereditary bony dysplasias include osteopoikilosis, osteopathia striata, osteopetrosis, progressive diaphyseal dysplasia, hereditary multiple diaphyseal sclerosis and pyknodysostosis. Non-hereditary dysplasias include melorheostosis, intramedullary osteosclerosis and overlap syndromes. Although many of these dysplasias are uncommon, radiologists should be familiar with their genetic, clinical and imaging findings to allow for differentiation from acquired causes of bony sclerosis. We present an overview of hereditary and non-hereditary bony dysplasias with focus on the pathogenesis, clinical and radiographic findings of each disorder.
Topics: Bone Diseases, Developmental; Diagnosis, Differential; Evidence-Based Medicine; Genetic Predisposition to Disease; Humans; Osteosclerosis
PubMed: 26898950
DOI: 10.1259/bjr.20150349 -
Anales de Pediatria (Barcelona, Spain :... Dec 2014
Topics: Child; Child, Preschool; Female; Humans; Male; Osteopoikilosis; Skin Diseases, Genetic
PubMed: 24857429
DOI: 10.1016/j.anpedi.2014.03.001 -
Anales de Pediatria (Barcelona, Spain :... Oct 2014
Topics: Humans; Infant; Male; Osteopoikilosis; Skin Diseases, Genetic
PubMed: 24378571
DOI: 10.1016/j.anpedi.2013.11.008 -
Asian Journal of Surgery Nov 2022
Topics: Humans; Osteopoikilosis; Spine
PubMed: 35599119
DOI: 10.1016/j.asjsur.2022.05.016 -
Frontiers in Endocrinology 2024Congenital Generalized Lipodystrophy (CGL) is a rare autosomal recessive disease caused by mutations in genes responsible for the formation and development of...
INTRODUCTION
Congenital Generalized Lipodystrophy (CGL) is a rare autosomal recessive disease caused by mutations in genes responsible for the formation and development of adipocytes. Bone abnormalities are described. However, there is a scarcity of data.
OBJECTIVE
To describe bone characteristics in a large CGL1 and 2 case series.
METHODS
Cross-sectional study that assessed bone radiological features of CGL patients of a reference hospital in Fortaleza (CE), Brazil. Patients underwent clinical and bone mineral metabolism evaluation, radiographs of the axial and appendicular skeleton and bone mineral density (BMD) assessment by DEXA (dual energy X-ray absorptiometry).
RESULTS
Nineteen patients were included, fourteen were CGL1 and 5, CGL2. Median age was 20 years (8-42) and 58% were women. Median BMI and percentage of body fat were, respectively, 21 Kg/m² (16-24), and 10.5% (7.6-15). The median leptin concentration was 1 ng/mL (0.1-3.3). Diabetes mellitus and dyslipidemia were present in 79% and 63% of patients, respectively. Median calcium and phosphate were normal in almost all patients (95%). Median parathyroid hormone and 25-OH-vitamin D were 23 pg/mL (7-75) and 28 ng/mL (18-43). Osteolytic lesions, osteosclerosis and pseudo-osteopoikylosis, were present in 74%, 42% and 32% of patients, respectively. Lytic lesions were found predominantly in the extremities of long bones, bilaterally and symmetrically, spine was spared. Osteosclerosis was present in axial and appendicular skeleton. Pseudo-osteopoikilosis was found symmetrically in epiphyses of femur and humerus, in addition to the pelvis. BMD Z-score greater than +2.5 SD was observed in 13 patients (68.4%). BMD was higher in CGL1 compared to CGL2 in lumbar spine and total body in adults. No associations were found between high BMD and HOMA-IR (p=0.686), DM (p=0.750), osteosclerosis (p=0.127) or pseudo-osteopoikilosis (p=0.342), and, between pain and bone lesions. Fractures were found in 3 patients.
CONCLUSION
Bone manifestations are prevalent, heterogeneous, and silent in CGL1 and CGL2. Osteolytic lesions are the most common, followed by osteosclerosis and pseudo-osteopoikilosis. Bone mass is high in most cases. There was no pain complaint related to bone lesions. Thus, systematic assessment of bone manifestations in CGL is essential. Studies are needed to better understand its pathogenesis and clinical consequences.
Topics: Adult; Humans; Female; Young Adult; Male; Bone Density; Lipodystrophy, Congenital Generalized; Osteopoikilosis; Prevalence; Cross-Sectional Studies; Lumbar Vertebrae; Osteosclerosis; Bone Diseases
PubMed: 38633760
DOI: 10.3389/fendo.2024.1326700 -
Nucleic Acids Research Dec 2018Receptor-regulated SMAD (R-SMAD: SMAD1, SMAD2, SMAD3, SMAD5 and SMAD8) proteins are key transcription factors of the transforming growth factor-β (TGF-β) superfamily...
Receptor-regulated SMAD (R-SMAD: SMAD1, SMAD2, SMAD3, SMAD5 and SMAD8) proteins are key transcription factors of the transforming growth factor-β (TGF-β) superfamily of cytokines. MAN1, an integral protein of the inner nuclear membrane, is a SMAD cofactor that terminates TGF-β superfamily signals. Heterozygous loss-of-function mutations in MAN1 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis. MAN1 interacts with MAD homology 2 (MH2) domains of R-SMAD proteins using its C-terminal U2AF homology motif (UHM) domain and UHM ligand motif (ULM) and facilitates R-SMAD dephosphorylation. Here, we report the structural basis for R-SMAD recognition by MAN1. The SMAD2-MAN1 and SMAD1-MAN1 complex structures show that an intramolecular UHM-ULM interaction of MAN1 forms a hydrophobic surface that interacts with a hydrophobic surface among the H2 helix, the strands β8 and β9, and the L3 loop of the MH2 domains of R-SMAD proteins. The complex structures also show the mechanism by which SMAD cofactors distinguish R-SMAD proteins that possess a highly conserved molecular surface.
Topics: Amino Acid Motifs; Animals; Computer Simulation; Crystallography, X-Ray; Cytokines; DNA Mutational Analysis; DNA-Binding Proteins; HEK293 Cells; Humans; Hydrophobic and Hydrophilic Interactions; Membrane Proteins; Mutation; Nuclear Envelope; Nuclear Proteins; Phosphorylation; Protein Binding; Protein Domains; Signal Transduction; Smad1 Protein; Smad2 Protein; Smad3 Protein; Transforming Growth Factor beta
PubMed: 30321401
DOI: 10.1093/nar/gky925