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The British Journal of Dermatology Apr 2016Buschke-Ollendorff syndrome (BOS) is a rare, often benign, autosomal skin disorder. BOS commonly presents with nontender connective tissue naevi and sclerotic bony... (Review)
Review
Buschke-Ollendorff syndrome (BOS) is a rare, often benign, autosomal skin disorder. BOS commonly presents with nontender connective tissue naevi and sclerotic bony lesions (osteopoikilosis [OPK]). Herein, we summarize the presenting features of BOS and potential associations by conducting a systematic review of the literature and summarizing a cohort seen at the Hospital for Sick Children (HSC), Toronto, Canada. PubMed was searched using the following terms: 'BOS'; 'dermatofibrosis lenticularis'; 'OPK'; 'LEMD3'; 'elastoma'; 'collagenoma'. Only case reports were included, without date or language restrictions. Cases were further narrowed to those where patients or their families had a combination of skin and bony lesions, or a positive genetic test. Data were summarized using frequencies. In total, 594 reports were discovered, of which 546 (92%) were excluded. The remaining 48 accounted for 164 cases. Skin lesions were noted in 24% of cases and bony lesions in 20%, while 54% of patients had both. In 1% of cases the diagnosis was made on genetic testing alone. A family history was noted in 92% of cases. All patients with spinal stenosis (2%) or shortened status (7%) had OPK. Six per cent of patients had neurological problems. However, 50% of the cohort from HSC had cognitive delays, and only cases from 2007 onwards reported cognitive delays (the prevalence was 17% among those cases). This review confirms the classical diagnostic features of BOS. In addition, it highlights a previously unreported association between a shortened stature and OPK, as well as a possible association with cognitive delays.
Topics: Adolescent; Adult; Age Distribution; Age of Onset; Aged; Child; Female; Humans; Male; Middle Aged; Osteopoikilosis; Skin Diseases, Genetic; Young Adult
PubMed: 26708699
DOI: 10.1111/bjd.14366 -
Journal of Endocrinological... Jun 2016Osteopoikilosis is a rare and benign autosomal dominant genetic disorder, characterized by a symmetric but unequal distribution of multiple hyperostotic areas in... (Comparative Study)
Comparative Study Review
INTRODUCTION
Osteopoikilosis is a rare and benign autosomal dominant genetic disorder, characterized by a symmetric but unequal distribution of multiple hyperostotic areas in different parts of the skeleton. Recent studies have reported loss-of-function mutations in the LEM domain containing 3 (LEMD3) gene, encoding an inner nuclear membrane protein, as a cause of osteopoikilosis.
METHODS
We investigated LEMD3 gene in a three-generation family from China, with six patients affected with osteopoikilosis. Peripheral blood samples were collected from family members and 100 healthy controls. All exons of the LEMD3 gene and adjacent exon-intron sequences were amplified by PCR and subsequently sequenced.
RESULTS
A novel heterozygous c.2612_2613insA (p.Y871X) mutation in exon 13 of LEMD3 was identified, which resulted in a frame shift predicted to generate a premature stop codon at amino acid position 871. The mutation co-segregates with the osteopoikilosis phenotype and was not found in 100 ethnically matched controls.
CONCLUSION
We identified a new mutation in LEMD3 gene, accounting for the familial case of osteopoikilosis. In addition we also review the clinical manifestation, diagnosis and treatment of osteopoikilosis.
Topics: Adult; Case-Control Studies; DNA-Binding Proteins; Exons; Female; Heterozygote; Humans; Male; Membrane Proteins; Mutation; Nuclear Proteins; Osteopoikilosis; Pedigree; Polymerase Chain Reaction; Polymorphism, Genetic
PubMed: 26694706
DOI: 10.1007/s40618-015-0419-z -
Caspian Journal of Internal Medicine 2015Osteopoikilosis (OPK) is a rare inherited condition of the bones, transmitted as an autosomal dominant trait characterized by numerous hyperostotic areas that tend to...
BACKGROUND
Osteopoikilosis (OPK) is a rare inherited condition of the bones, transmitted as an autosomal dominant trait characterized by numerous hyperostotic areas that tend to localize in periarticular osseous regions. It is usually asymptomatic and is often diagnosed incidentally during x-rays made by other reasons. We present a case of 34-year-old man suffering from polyarthralgia and low back pain.
CASE PRESENTATION
A 34-year-old male patient, smoking 40 packs yearly and alcoholic was referred to our department of rheumatology, complaining of polyarthralgia which started 3 years ago and involving large and small joints. He reported the presence of pelvic pain mostly located at both hip joints and in the two ankles. On radiologic examination, numerous, symmetric, well defined, sclerotic lesions were identified on shoulder, wrist, ankles, pelvis, and on spine. The size of the lesions varied from 2 to 9 millimeters. These spots were located on spongious bone tissue, and in the inner bone cortex located bilaterally in the epiphyses and metaphyses. We concluded the diagnosis of OPK. His mother was found to have the same lesions without any symptoms.
CONCLUSION
OPK may be an isolated finding or associated with other pathologies, e.g. skin manifestations, rheumatic and/or skeletal disorders. The main differential diagnosis is osteoblastic metastasis.
PubMed: 26644888
DOI: No ID Found -
International Journal of Dermatology Sep 2015
Review
Topics: Acne Vulgaris; Combined Modality Therapy; Follow-Up Studies; Hidradenitis Suppurativa; Humans; Male; Methylene Blue; Middle Aged; Osteopoikilosis; Photochemotherapy; Prednisone; Pyoderma Gangrenosum; Rare Diseases; Risk Assessment; Syndrome; Treatment Outcome
PubMed: 26175185
DOI: 10.1111/ijd.12827 -
Journal of Physical Therapy Science May 2015[Purpose] Osteopoikilosis is a rare hereditary bone disease that is usually asymptomatic. It is generally diagnosed incidentally on plain radiography. The coexistence of...
[Purpose] Osteopoikilosis is a rare hereditary bone disease that is usually asymptomatic. It is generally diagnosed incidentally on plain radiography. The coexistence of osteopoikilosis with seronegative spondyloarthritis or spinal stenosis is rarely reported. Here, we report the case of a 27-year-old male patient with osteopoikilosis, seronegative spondyloarthritis, and spinal stenosis. [Subject] A 27-year-old male patient with buttock pain and back pain radiating to the legs. [Methods] A plain anteroposterior radiograph of the pelvis revealed numerous round and oval sclerotic bone areas of varying size. Investigation of the knee joints showed similar findings, and the patient was diagnosed with osteopoikilosis. Lumbar magnetic resonance images showed spinal stenosis and degenerative changes in his lumbar facet joints. Magnetic resonance images of the sacroiliac joints showed bilateral involvement with narrowing of both sacroiliac joints, nodular multiple sclerotic foci, and contrast enhancement in both joint spaces and periarticular areas. HLA B-27 test was negative. [Results] The patient was diagnosed with osteopoikilosis, seronegative spondyloarthritis, and spinal stenosis. Treatment included asemetasin twice daily and exercise therapy. [Conclusion] Symptomatic patients with osteopoikilosis should be investigated for other possible coexisting medical conditions; this will shorten the times to diagnosis and treatment.
PubMed: 26157277
DOI: 10.1589/jpts.27.1625 -
Pediatric Dermatology 2015Buschke-Ollendorff syndrome is a rare autosomal dominant disorder caused by loss of function in LEMD3, resulting in connective tissue nevi and varying bone dysplasia....
Buschke-Ollendorff syndrome is a rare autosomal dominant disorder caused by loss of function in LEMD3, resulting in connective tissue nevi and varying bone dysplasia. Although typically benign, we describe a novel LEMD3 splice site mutation (IVS12 + 1delG) in a 13-year-old boy with Buschke-Ollendorff syndrome presenting with severe skeletal deformities, polyostotic melorheostosis, and osteopoikilosis.
Topics: Abnormalities, Multiple; Adolescent; DNA-Binding Proteins; Diagnosis, Differential; Genetic Predisposition to Disease; Humans; Male; Melorheostosis; Membrane Proteins; Mutation; Nuclear Proteins; Osteopoikilosis; Prognosis; RNA Splice Sites; Rare Diseases; Skin Diseases, Genetic
PubMed: 26135202
DOI: 10.1111/pde.12634 -
Annals of Saudi Medicine 2014Melorheostosis is an uncommon, sporadic, sclerosing bone lesion that may affect the adjacent soft tissues. It has been associated with many entities such as...
Melorheostosis is an uncommon, sporadic, sclerosing bone lesion that may affect the adjacent soft tissues. It has been associated with many entities such as osteopoikilosis, soft tissue vascular malformations, bone and soft tissue tumors, nephrotic syndrome, segmental limb contractures, osteosarcoma, desmoid tumor, and mesenteric fibromatosis. Synovial osteochondromatosis is a benign neoplasia of the hyaline cartilage presenting as nodules in the subsynovial tissue of a joint or tendon sheath. The intra-articular extension of melorheostosis mimicking synovial osteochondromatosis has not been reported before. In this article, the authors describe an unusual case mimicking synovial chondromatosis arising as a result of melorheostosis and their characteristic imaging findings.
Topics: Chondromatosis, Synovial; Diagnosis, Differential; Female; Humans; Knee Joint; Magnetic Resonance Imaging; Melorheostosis; Middle Aged
PubMed: 25971832
DOI: 10.5144/0256-4947.2014.547 -
BMJ Case Reports May 2015
Topics: Adult; Humans; Knee; Low Back Pain; Male; Osteopoikilosis; Pelvis; Physical Therapy Modalities; Physical Therapy Specialty; Tomography, X-Ray Computed
PubMed: 25939972
DOI: 10.1136/bcr-2014-208422 -
Injury Jul 2015
Topics: Adult; Athletic Injuries; Bone and Bones; Football; Humans; Incidental Findings; Knee Injuries; Knee Joint; Magnetic Resonance Imaging; Male; Osteopoikilosis; Patient Education as Topic; Prognosis; United Kingdom
PubMed: 25707878
DOI: 10.1016/j.injury.2015.02.005 -
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