[On osteopoikilosis and the new clinical picture--hyperostosis in osteopoikilosis].
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Adolescent↗
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Melorheostosis in a patient with familial osteopoikilosis.
We report on a 40-year-old woman with melorheostosis who also had radiographic findings of generalized osteopoikilosis. Three of her sibs have osteopoikilosis, but none of them have melorheostosis. Several cases of "mixed sclerosing bone dysplasia" have been described previously, and all have been sporadic. Isolated melorheostosis without osteopoikilosis is also generally a sporadic condition, but osteopoikilosis has been described as an autosomal-dominant trait. The finding of mixed sclerosing bone dysplasia in a family with osteopoikilosis suggests that the melorheostotic component of this disorder may be due to a second mutation at the same locus that causes isolated familial osteopoikilosis.
Adult↗
Melorheostosis in a family with autosomal dominant osteopoikilosis.
We describe a 19-year-old woman with melorheostosis and osteopoikilosis (mixed sclerosing bone dysplasia). Her sister and mother had osteopoikilosis, but no evidence of melorheostosis. Isolated melorheostosis and melorheostosis with osteopoikilosis are sporadic disorders. Osteopoikilosis is an autosomal dominant trait. Mixed sclerosing bone dysplasia in a family with autosomal dominant osteopoikilosis raises the possibility that the two bone disorders may be related. This family and that of Butkus et al. [1997: Am J Med Genet 72:43-46] suggest that the melorheostosis could be due to a second mutation at the same locus as that which causes autosomal dominant osteopoikilosis.
Adolescent↗
[Dermatofibrosis lenticularis disseminata with osteopoikilosis (Buschke-Ollendorff syndrome)].
Presented are 4 cases showing combined occurrence of lenticular disseminated dermatofibrosis and osteopoikilosis (Buschke-Ollendorff syndrome). Histological findings of the skin show localized increases in elastic and collageneous structures. Type I of the Buschke-Ollendorff syndrome which is characterized by disseminated small pepper-corn like changes in the skin must be differentiated from type II which is named "dermatofibrosis nodularis xanthomatoides multilokularis" with osteopoikilosis, showing larger, single or plaque like connected changes of the skin. The Buschke-Ollendorff syndrome is a congenital autosomal dominant hereditary abnormality arising from the mutual mesodermal genesis of skin and bone changes. The Buschke-Ollendorff syndrome occasionally brings about impaired growth and mental retardation as well as rheumatoid complaints. Osteopoikilosis always appears symmetrically showing different changes in the bones usually without changes in the skin; in the contrary the lenticular disseminated dermatofibrosis is always occurring combined with findings of osteopoikilosis. During the growing years we observed patients with an increase in size and density of the bone changes and also new lesions, while the skin changes remained nearly the same.
Adult↗
Melorheostosis may originate as a type 2 segmental manifestation of osteopoikilosis.
Melorheostosis is a non-hereditary disorder involving the bones in a segmental pattern, whereas osteopoikilosis is a rather mild disseminated bone disorder inherited as an autosomal dominant trait. Interestingly, melorheostosis and osteopoikilosis may sometimes occur together. In analogy to various autosomal dominant skin disorders for which a type 2 segmental manifestation has been postulated, melorheostosis may be best explained in such cases as a type 2 segmental osteopoikilosis, resulting from early loss of the corresponding wild type allele at the gene locus of this autosomal dominant bone disorder.
Bone and Bones↗
Metastatic breast carcinoma to bone disguised by osteopoikilosis.
A case of metastatic lobular carcinoma of the breast in conjunction with osteopoikilosis is described. Widespread diffuse sclerotic bone lesions were identified on radiographs in a patient with breast carcinoma. In addition computed tomography demonstrated discrete spherical areas of increased density throughout the skeleton manifest typically by osteopoikilosis. No systemic symptoms were evident, blood parameters were normal and the lesions did not demonstrate any increased uptake of technetium on bone scan. An iliac crest bone biopsy, however, revealed metastatic disease in addition to osteopoikilosis. Conventional radiological investigations may not delineate metastasis on a background of bone dysplasia.
Bone Neoplasms↗
Clinical features of ten cases of osteopoikilosis.
A retrospective study was carried out of the ten cases of osteopoikilosis seen at this Orthopedic Unit over a 15-year period in order to determine the reasons why patients seek consultation, preliminary diagnosis, and associated lesions. Eight patients consulted for problems not related to the locomotor apparatus, and diagnosis was by chance; the other two presented joint pain. The preliminary diagnosis was osteoblastic metastasis in five patients and osteopoikilosis in the other five. None of the patients displayed skin or visceral involvement, but three presented bone alterations. Definitive diagnosis was made by measurement of biochemical markers of bone remodeling, radiography of both hands, and bone scan. Bone biopsy was performed in one case. Although rare, the radiographic symptoms of osteopoikilosis are sufficiently specific to avoid false diagnoses, which may give rise to rigorous and expensive studies for other important disorders.
Adult↗
Coexistence of osteopoikilosis and discoid lupus erythematosus: a case report.
Osteopoikilosis is an uncommon, benign sclerosing bone dysplasia characterised by typical roentgenographic findings and usually seen in patients with dermatological problems. We report a case of osteopoikilosis and discoid lupus erythematosus presenting with skin and mucosal involvement, an association that has never previously been reported. We also discuss the differential diagnosis and the clinical pathologies accompanying osteopoikilosis in the literature.
Adult↗
Osteopoikilosis: report of a clinical case and review of the literature.
Osteopoikilosis is an uncommon benign sclerosing bone dysplasia. Herein we present a case of osteopoikilosis with characteristic roentgenographic findings and clinical findings of cervical myelopathy. The importance of the differential diagnosis in symptomatic cases of osteopoikilosis is emphasized with the review of the literature.
Bone Neoplasms↗
Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis.
Osteopoikilosis, Buschke-Ollendorff syndrome (BOS) and melorheostosis are disorders characterized by increased bone density. The occurrence of one or more of these phenotypes in the same individual or family suggests that these entities might be allelic. We collected data from three families in which affected individuals had osteopoikilosis with or without manifestations of BOS or melorheostosis. A genome-wide linkage analysis in these families, followed by the identification of a microdeletion in an unrelated individual with these diseases, allowed us to map the gene that is mutated in osteopoikilosis. All the affected individuals that we investigated were heterozygous with respect to a loss-of-function mutation in LEMD3 (also called MAN1), which encodes an inner nuclear membrane protein. A somatic mutation in the second allele of LEMD3 could not be identified in fibroblasts from affected skin of an individual with BOS and an individual with melorheostosis. XMAN1, the Xenopus laevis ortholog, antagonizes BMP signaling during embryogenesis. In this study, LEMD3 interacted with BMP and activin-TGFbeta receptor-activated Smads and antagonized both signaling pathways in human cells.
Base Sequence↗
Disorders associated with osteopoikilosis: 5 different lesions in a family.
Although osteopoikilosis is generally considered an accidental finding, several developmental dysplasias coexisting with this disorder have been reported. However, all authors have mentioned only one coexisting finding, and most of them are case reports. We report a family in whom various members had osteopoikilosis with 5 different associated lesions. We suggest that osteopoikilosis is a bone manifestation of a generalized fibroproliferative or stenosing disease.
Adolescent↗
Bone imaging as an aid for the diagnosis of osteopoikilosis.
An unusual case of osteopoikilosis was found in a 52-year-old black woman. The rather large diffuse focal increased densities involving the ribs, spine, and pelvis as seen in the roentgenograms were believed to represent metastatic bone lesions. The normal nuclide bone images helped revise the diagnosis to osteopoikilosis. Early recognition of osteopoikilosis would have prevented the patient's apprehension and the extensive work-up for the primary tumor.
Bone Neoplasms↗
Tc-99m MDP uptake in osteopoikilosis.
A Tc-99m bone scan of a patient with classic roentgenographic findings of osteopoikilosis revealed multiple foci of increased activity that corresponded to many of the sclerotic foci on the roentgenograms. The authors presume that the abnormal bone scan in this patient reflects active osseous remodeling, similar to what has been observed in bone islands. Previous reports have emphasized the critical role of the radionuclide bone scan for distinguishing osteopoikilosis from osteoblastic bone metastases in patients with a known or suspected primary malignancy. In a young patient, an abnormal bone scan does not exclude the diagnosis of osteopoikilosis if the roentgenographic findings are characteristic of that entity.
Adult↗
Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14.
This report presents the detection of a heterozygous deletion at chromosome 12q14 in three unrelated patients with a similar phenotype consisting of mild mental retardation, failure to thrive in infancy, proportionate short stature and osteopoikilosis as the most characteristic features. In each case, this interstitial deletion was found using molecular karyotyping. The deletion occurred as a de novo event and varied between 3.44 and 6 megabases (Mb) in size with a 3.44 Mb common deleted region. The deleted interval was not flanked by low-copy repeats or segmental duplications. It contains 13 RefSeq genes, including LEMD3, which was previously shown to be the causal gene for osteopoikilosis. The observation of osteopoikilosis lesions should facilitate recognition of this new microdeletion syndrome among children with failure to thrive, short stature and learning disabilities.
Abnormalities, Multiple↗
99mTc-pyrophosphate bone imaging in osteopoikilosis, osteopathia striata, and melorheostosis.
Technetium-99m pyrophosphate bone images were contrasted with radiographic findings in two patients with osteopoikilosis, one with osteopathia striata, and one with melorheostosis. Despite the striking radiographic findings, scans were normal in osteopoikilosis and osteopathia striata. In melorheostosis, focal increased radiopharmaceutical accumulation appeared in each radiographically abnormal area. Technetium-99m pyrophosphate bone images should prove helpful when superimposed osseous disease must be differentiated from osteopoikilosis, osteopathia striata, or melorheostosis.
Adult↗
[Iconography of Buschke Ollendorff syndrome: x ray computed tomography and nuclear magnetic resonance of osteopoikilosis].
The authors report a case of Buschke-Ollendorff syndrome in a 66-year old woman who had been admitted for polymyalgia rheumatica. Dermatological examination showed innumerable small ivory papullae bilaterally and symmetrically distributed over the back, the shoulders, the flexor aspect of the elbows, the wrists and the thighs. Biopsy of a papulla displayed hypertrophy of the elastic tissue condensed in the deep dermis. Electron microscopy showed dense collagen bundles together with an absence of microfibillae and of anchoring fibres in the superficial dermis. Standard radiology, computed tomography (CT) and nuclear magnetic resonance (NMR) disclosed small areas of "stippled" bone densification in the lower middle part of the femoral heads, leading to a diagnosis of osteopoikilosis. Buschke-Ollendorff syndrome was described in 1928 as "dermatofibrosis lenticularis disseminata" associated with a bone-condensing disease called "osteopoikilosis". The condition is transmitted as an autosomal dominant trait. Light and electron microscopy of the skin show densification of collagen structures and elastic fibres that are very numerous and of abnormal structure. Osteopoikilosis may present under two different forms, punctate (Albers-Schomberg syndrome) or striated, corresponding anatomically to areas of compact bone. CT and NMR provide detailed information on the location and structure of bone condensation area.
Aged↗
Lobular carcinoma of the breast metastatic to bone with unusual clinical, radiologic, and pathologic features mimicking osteopoikilosis.
A 55-year-old woman who underwent a right radical mastectomy for infiltrating lobular carcinoma was found to have multiple diffuse osteoblastic bone lesions. Since she was asymptomatic, had no elevation of alkaline phosphatase, and the lesions did not take up technetium pyrophosphate on bone scan, she was thought to have osteopoikilosis. An iliac bone biopsy was performed that showed greatly thickened bony trabeculae with diffuse delicate marrow fibrosis entrapping easily overlooked short strands of small malignant cells. The histologic picture also closely resembled osteopoikilosis. Although infiltrating lobular carcinoma has been recognized as separate from ductal carcinoma in the primary site, its recognition in metastatic foci is still vague. Attention is drawn to its histologic appearance in skeletal metastases so that such lesions will be more recognizable in the future.
Bone Neoplasms↗
Melorheostosis in a family with autosomal dominant osteopoikilosis: report of a third family.
We describe a three-generation family with clinical and radiological findings of osteopoikilosis in five and melorheostosis in one individual. The co-occurrence of both rare bone disorders suggests that both conditions might be related as suggested previously by Butkus et al. [1997: Am J Med Genet 72:43-46] and Nevin et al. [1999: Am J Med Genet 82:409-414]. The findings in this family strengthen the hypothesis that osteopoikilosis is an autosomal dominant condition and that an early postzygotic second hit mutation in the second allele results in melorheostosis.
Child↗