Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P50583 (asymmetrical)
 12,197 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Five hundred and sixty intact skeletons and several thousand disarticulated vertebrae have been examined with special reference to spinal fusion. In period they ranged from a 21st dynasty Egyptian mummy to a mid-19th century skeleton. Osteophytes were found in about half of the specimens, as reported previously. Fifteen skeletons with extensive blocks of spinal fusion were also identified. Sacroiliitis was present in two, but the asymmetrical spinal disease and peripheral joint changes suggested Reiter's disease or psoriatic spondylitis rather than ankylosing spondylitis. The remaining 13 had typical features of Forrestier's disease, and extraspinal findings indicative of diffuse idiopathic skeletal hyperostosis (DISH) were also common. A review of the available literature suggests that many palaeopathological specimens previously reported as anklylosing spondylitis are examples of DISH or other seronegative spondylarthropathies. The antiquity and palaeopathology of AS needs reappraisal.
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PMID:Palaeopathology of spinal osteophytosis, vertebral ankylosis, ankylosing spondylitis, and vertebral hyperostosis. 388 15

Palmoplantar pustulosis associated with sternocostoclavicular hyperostosis is characterized by asymmetrical and nonerosive involvement of the sternocostoclavicular joint, spine, and peripheral joints in association with palmoplantar pustulosis. This seronegative arthrosteitis has been most frequently described in the rheumatologic literature. Male and female patients are affect equally, but there tends to be a higher prevalence in Japan and Scandinavian countries. We present a case of 50-year-old man who presented with palmoplantar pustulosis that preceded his sternocostoclavicular hyperostotic symptoms by 1 to 2 years.
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PMID:Palmoplantar pustulosis associated with sternocostoclavicular hyperostosis. 971 1

A case of hyperostosis of the left hemimandible medial face in a young patient is reported. This in an interesting case both for the remarkable size and the location of the lesion and because it was unique and asymmetrical; as a matter of fact this pathology, frequent on the jaws, is usually symmetrical and bilateral. The most probable etiopathogenetic hypothesis for the case presented to our observation seems to be an unknown localized stimulation of osteoblastic cells. Considering its size, the lesion was removed.
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PMID:[Mandibular hyperostosis. A case report]. 1247 77

Proteus syndrome is a complex hamartomatous disorder characterized by asymmetrical gigantism, epidermal nevi, vascular malformations, hamartomas, lipomas, and hyperostosis. Since the syndrome was first described, many hypotheses have been proposed to explain its occurrence. The most plausible is Happle's somatic mosaic hypothesis, but no somatic mutations in candidate genes have been reported to be clearly involved in Proteus syndrome. However, germ-line PTEN mutations have been reported in patients with Proteus and in "Proteus-like disorders." Other studies of patients with Proteus syndrome have not supported these findings. In this study, affected and unaffected tissue from six patients diagnosed with Proteus syndrome were screened by direct sequencing of genomic DNA to determine if there might be an association between germ-line or somatic mutations in PTEN or GPC3 and the development of Proteus syndrome. No intra-exonic mutations were identified, indicating that neither PTEN nor GPC3 are likely to have major roles in the etiology of Proteus syndrome in our series of patients.
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PMID:Mutation analysis of the tumor suppressor PTEN and the glypican 3 (GPC3) gene in patients diagnosed with Proteus syndrome. 1537 12

Proteus syndrome is a rare disorder with progressive asymmetrical and disproportionate overgrowth of various tissues of the body. The syndrome is characterized by a wide range of malformations, including craniofacial deformities. Extraoral examination revealed several of the classical craniofacial features of Proteus syndrome: pronounced hemifacial hypertrophy, macrodactyly and hyperostosis. Intraoral examination revealed a high arched palate and gingival hyperplasia. Other findings were unilateral enlargement of the tongue, alveolar growth and dilaceration of the roots of the teeth. There were severe degenerative changes and deformities in the left temporomandibular joint but the oversized condyle was asymptomatic; there was no pain, limitation and deviation at mouth opening. Treatment was not necessary owing to the asymptomatic situation but periodic follow-up with clinical and radiographic examination was considered. The aim of this article is to describe the radiographic manifestations of an asymptomatic condyle malformation and other craniofacial, oral and dental findings in a 33-year-old female patient with known Proteus syndrome.
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PMID:Radiographic manifestations of the temporomandibular joint in a case of Proteus syndrome. 2224 76

Wormian bones, also known as intrasutural bones, are present as an anatomical variation in healthy individuals. However, a higher than the usual incidence can be an important feature of some congenital pathological conditions. In this study we describe a case of an adult cranium with multiple Wormian bones. The cranium was a single sample obtained from an archaeological excavation in Vinitsa, Northeastern Bulgaria, and probably dated in the Chalcolithic. The Chalcolithic is a period of human history connected with discovering and using of copper. Actually, it is a transitional phase between the Neolithic and the Bronze Age. In this case the Wormian bones are mostly large in size and arranged in a mosaic pattern in several cranial regions. The cranium also shows features such as dolichocrany, a moderate platybasia, a notch in the posterior margin of the foramen magnum, hypoplastic and asymmetrical frontal sinuses, underdeveloped mastoid air cells, hyperostosis cranii interna, moderate frontal bossing, a complete metopic suture, a delayed sutural closure, relatively small facial bones, an early loss of teeth, dental caries and hypoplastic enamel defects on two preserved molars. Differential diagnosis indicates that the combination of all these features shows a link with pathological conditions involving dysplasias with prominent membranous bone involvement and an increased bone density such as cleidocranial dysplasia and pyknodysostosis.
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PMID:Multiple Wormian bones and their relation with definite pathological conditions in a case of an adult cranium. 2506 15

Melorheostosis is a very rare sclerosing bone dysplasia characterized by asymmetrical and progressive cortical hyperostosis, usually with involvement of soft tissues surrounding the lesions. Recently Kang et al. identified somatic mosaicism for variants (p.Gln56Pro, p.Lys57Asn, or p.Lys57Glu) in the negative regulatory domain of MAP2K1, resulting in increased ERK1/2 signalling in affected tissues. In our study, we employed several sequencing technologies to unravel genetic variants (only present in affected tissues) from four sporadic melorheostosis patients. In the exome of two patients, we identified the same variants (p.K57N and p.K57E) as previously described by Kang et al. WGS and RNAseq analysis in a third patient demonstrated the presence of a novel variant (p.Cys121Ser) in the catalytic domain of MAP2K1. In addition, gene set enrichment analysis of the transcriptome data demonstrated upregulation of proliferative pathways. Interestingly, increased proliferation of MAP2K1 p.Lys57Asn-positive osteoblasts has been reported by Kang et al. The variants located in the hotspot region of the negative regulatory domain as well as this newly identified p.Cys121Ser variant have all been classified as MAP2K1 variants that can constitutively activate the downstream effector Erk. Finally, in a fourth patient with classical radiographic features of melorheostosis, no pathogenic variants could be identified in MAP2K1 or the other candidate genes for melorheostosis (SMAD3; LEMD3; KRAS). In conclusion, our study strongly suggests that not only somatic variants in the regulatory domain of MAP2K1 but also in the catalytic domain can cause melorheostosis. Our observations confirm that mutations in MAP2K1 are a major cause of melorheostosis and also suggest further locus heterogeneity for this disorder.
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PMID:A multi-omics approach expands the mutational spectrum of MAP2K1-related melorheostosis. 3238 35