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Case Reports in Dermatological Medicine 2016Introduction. Buschke-Ollendorf syndrome (BOS) is an uncommon syndrome characterized by osteopoikilosis and other bone abnormalities, accompanied by skin lesions, most...
Introduction. Buschke-Ollendorf syndrome (BOS) is an uncommon syndrome characterized by osteopoikilosis and other bone abnormalities, accompanied by skin lesions, most frequently connective tissue nevi. BOS is caused by mutations in the LEMD3 gene, which encodes the inner nuclear membrane protein Man1. We describe a unique case of osteopoikilosis associated with late-onset localized scleroderma and familial LEMD3 mutations. Case Report. A 72-year-old woman presented with adult-onset diffuse morphea and bullous skin lesions. Evaluation revealed multiple hyperostotic lesions (osteopoikilosis) suggestive of BOS. DNA sequencing identified a previously undescribed nonsense mutation (Trp621X) in the LEMD3 gene encoding Man1. Two additional family members were found to have osteopoikilosis and carry the same LEMD3 mutation. Conclusions and Relevance. We report a unique familial LEMD3 mutation in an individual with osteopoikilosis and late-onset morphea. We propose that this constellation represents a novel syndromic variant of BOS.
PubMed: 27382493
DOI: 10.1155/2016/2483041 -
Revista Espanola de Medicina Nuclear E... 2017The coexistence of different bone diseases in the same patient involves a complex differential diagnosis. A patient is presented who was studied due to a renal mass that...
The coexistence of different bone diseases in the same patient involves a complex differential diagnosis. A patient is presented who was studied due to a renal mass that showed many sclerotic lesions in spine and limbs in conventional radiology and CT. These lesions were evaluated with TC-HDP bone scintigraphy and F-FDG PET/CT, which helped to obtain the definitive pathological diagnosis of osteopoikilosis (OP) co-existing with gastric cancer bone metastases. Of the different imaging scans performed, bone scintigraphy was particularly relevant due to its ability to discriminate between benign and metastatic bone disease.
Topics: Aged; Bone Neoplasms; Female; Fluorodeoxyglucose F18; Humans; Osteopoikilosis; Positron Emission Tomography Computed Tomography; Radionuclide Imaging; Radiopharmaceuticals; Stomach Neoplasms
PubMed: 27329562
DOI: 10.1016/j.remn.2016.04.010 -
The Journal of Pediatrics Sep 2016
Topics: Adolescent; Ankle; Bone and Bones; Female; Humans; Osteopoikilosis
PubMed: 27301574
DOI: 10.1016/j.jpeds.2016.05.069 -
Medicine Jun 2016Osteopoikilosis is a benign but rare condition characterized by bone islands throughout the osseous tissue, which could be easily confused with bone metastasis. We... (Review)
Review
Osteopoikilosis is a benign but rare condition characterized by bone islands throughout the osseous tissue, which could be easily confused with bone metastasis. We present a case of a 37-year-old man presented to orthopedic outpatient clinic with right hip pain for 2 weeks. There were multiple, small punctate lesions scattered throughout the skeleton on radiograph. Subsequent Tc-99m methylene diphosphonate (MDP) bone scan with pelvic single-photon emission computed tomography (SPECT)/computed tomography (CT) showed multiple enostoses without abnormal focal MDP uptake. Therefore, clinical diagnosis was compatible with osteopoikilosis while bone metastasis was unlikely. The symptoms then improved by conservative treatments. Osteopoikilosis is usually an incidental finding on radiograph or CT, and a normal MDP confirmed the diagnosis by excluding bone metastasis. It is important for clinicians to recognize the specific image features to prevent further unnecessary interventions. In addition, bone SPECT/CT could also make the diagnosis in one step.
Topics: Adult; Diagnosis, Differential; Humans; Incidental Findings; Male; Osteopoikilosis; Pelvic Bones; Radiopharmaceuticals; Single Photon Emission Computed Tomography Computed Tomography; Technetium Tc 99m Medronate
PubMed: 27281099
DOI: 10.1097/MD.0000000000003868 -
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 -
The British Journal of Dermatology Apr 2016
Topics: Humans; Osteopoikilosis; Skin Diseases, Genetic; Syndrome
PubMed: 27115577
DOI: 10.1111/bjd.14488 -
JAAD Case Reports Mar 2015
PubMed: 27051689
DOI: 10.1016/j.jdcr.2015.01.004 -
JAMA Dermatology Jul 2016
Topics: Biopsy, Needle; DNA-Binding Proteins; Genetic Predisposition to Disease; Humans; Immunohistochemistry; Infant; Membrane Proteins; Nuclear Proteins; Osteopoikilosis; Point Mutation; Prognosis; Rare Diseases; Severity of Illness Index; Skin Diseases, Genetic
PubMed: 27007781
DOI: 10.1001/jamadermatol.2016.0350 -
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 -
Journal of Dermatological Science Mar 2016
Topics: Biopsy; Child; DNA Mutational Analysis; DNA-Binding Proteins; Exons; Frameshift Mutation; Genetic Association Studies; Genetic Markers; Genetic Predisposition to Disease; Heredity; Humans; Male; Membrane Proteins; Nuclear Proteins; Osteopoikilosis; Phenotype; RNA Recognition Motif; Skin; Skin Diseases, Genetic
PubMed: 26711937
DOI: 10.1016/j.jdermsci.2015.12.002