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Journal of Pediatric Genetics Mar 2020Buschke-Ollendorf Syndrome (BOS) is a benign autosomal dominant disorder caused by pathogenic mutations in . Here, we describe a family diagnosed to have varied...
Buschke-Ollendorf Syndrome (BOS) is a benign autosomal dominant disorder caused by pathogenic mutations in . Here, we describe a family diagnosed to have varied phenotypes associated with BOS. Single gene testing of detected a heterozygous frameshift pathogenic variant in both the affected family members. Besides the phenotypic description, this report highlights the need for a comprehensive evaluation in connective tissue disorders and the importance of genotype-phenotype correlation in BOS.
PubMed: 31976147
DOI: 10.1055/s-0039-1694767 -
BMC Research Notes Jun 2016We describe a male with functionally impairing radial deviation of the thumb who presented to us at 24 years of age. Two sclerotic skin lesions had been excised...
BACKGROUND
We describe a male with functionally impairing radial deviation of the thumb who presented to us at 24 years of age. Two sclerotic skin lesions had been excised 7 years before because of consecutive skin contracture. Latest radiological examination showed a spotted pattern consistent with osteopoikilosis.
CASE PRESENTATION
A corrective osteotomy of the thumb was carried out due to the patients discomfort. Facing the simultaneous osteo-cutaneous malformation we postulated a Buschke-Ollendorff syndrome. Buschke-Ollendorff syndrome is a rare autosomal-dominant hereditary disorder of connective tissue with typical osteo-cutaneous manifestations. To explore our hypothesis, biopsies were taken from the affected bone lesions and surrounding skin and soft tissue for histological investigation and genetic testing of the LEMD3 gene was performed on blood of the patient. The histology showed typical changes of the bone architecture and a fibrotic collagenous nodule of the skin. The genetic testing on DNA extracted from peripheral blood leucocytes confirmed a heterozygous loss of function mutation in the LEM domain-containing protein 3 (LEMD3) gene coding for the inner nuclear membrane protein MAN1, which causes osteopoikilosis by antagonizing transforming growth factor β (TGF-β) and bone morphogenetic protein (BMP) signalling.
CONCLUSIONS
In atypical cases of simultaneous occurrence of fibrotic skin lesions and a spotted pattern in the X-ray we recommend the genetic screening of the LEMD3 gene. A correct diagnosis of Buschke-Ollendorff syndrome is necessary to spare patients from expensive investigations and to provide reassurance about the benign nature of the disease.
Topics: Abnormalities, Multiple; Base Sequence; DNA Mutational Analysis; DNA-Binding Proteins; Humans; Male; Membrane Proteins; Mutation; Nuclear Proteins; Osteopoikilosis; Sequence Homology, Nucleic Acid; Skin Abnormalities; Skin Diseases, Genetic; Thumb; Young Adult
PubMed: 27267960
DOI: 10.1186/s13104-016-2095-2 -
Annals of Laboratory Medicine Nov 2017Osteopoikilosis is an autosomal dominant bone disorder characterized by symmetric multiple osteosclerotic lesions throughout the axial and appendicular skeleton....
Osteopoikilosis is an autosomal dominant bone disorder characterized by symmetric multiple osteosclerotic lesions throughout the axial and appendicular skeleton. Pathogenic variants in the LEMD3 have been identified as the cause of osteopoikilosis. LEMD3 encodes an inner nuclear membrane protein that interacts with bone morphogenetic protein (BMP) and transforming growth factor (TGF)-β pathways. We report the case of a 19-year-old man presenting with lower back pain and sciatica. His radiograph revealed bilateral and symmetrical multiple osteosclerotic bone lesions in both scapular areas. Sanger sequencing of LEMD3 revealed a four-base-pair deletion in intron 2 (c.1560+5_1560+8del), [corrected] which was inherited from his father. We found that this four-base-pair deletion in intron 2 causes aberrant splicing and consequent deletion of exon 2. To the best of our knowledge, this is the first report of genetically confirmed osteopoikilosis in Korea.
Topics: Asian People; Bones of Lower Extremity; Bones of Upper Extremity; DNA Mutational Analysis; DNA-Binding Proteins; Exons; Humans; Introns; Male; Membrane Proteins; Nuclear Proteins; Osteopoikilosis; RNA Splice Sites; Republic of Korea; Sequence Deletion; Young Adult
PubMed: 28840995
DOI: 10.3343/alm.2017.37.6.540 -
Polish Archives of Internal Medicine Mar 2020
Topics: Adrenal Gland Neoplasms; Female; Humans; Low Back Pain; Middle Aged; Myelolipoma; Osteopoikilosis; Osteosclerosis
PubMed: 31976926
DOI: 10.20452/pamw.15158 -
Journal of Orthopaedic Case Reports 2020Prostate 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...
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.
PubMed: 32953655
DOI: 10.13107/jocr.2020.v10.i02.1692 -
Annals of Laboratory Medicine Mar 2019This corrects the article on p. 540 in vol. 37, PMID: 28840995.
This corrects the article on p. 540 in vol. 37, PMID: 28840995.
PubMed: 30430792
DOI: 10.3343/alm.2019.39.2.235 -
Ugeskrift For Laeger Jan 2015Buschke-Ollendorff syndrome is a rare condition characterized by skin manifestations and osteopoikilosis. We describe a mother and her son who presented with indurated...
Buschke-Ollendorff syndrome is a rare condition characterized by skin manifestations and osteopoikilosis. We describe a mother and her son who presented with indurated skin lesions suggestive of connective tissue naevi. X-rays showed multiple symmetrical foci of osteosclerosis. They had both been diagnosed earlier with Calvé-Legg-Perthes disease, which on revision most likely represented Buschke-Ollendorff syndrome. Buschke-Ollendorff syndrome may imitate Calvé-Legg-Perthes disease. Skin signs may be the clue to diagnosis. Main differentials are sclerotic bone metastases and osteoma.
Topics: Adult; Child; Diagnostic Errors; Female; Humans; Legg-Calve-Perthes Disease; Male; Mothers; Osteopoikilosis; Skin Diseases, Genetic
PubMed: 25612973
DOI: No ID Found