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      Tumoral calcinosis in the cervical spine: a case report and review of the literature

      case-report

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          Abstract

          Background

          Tumoral calcinosis is rarely located in spine. A 55-year-old Japanese woman with cervical tumoral calcinosis is presented, along with a review of the literature relating to tumoral calcinosis in the spine. We discussed the etiology, diagnosis, and management of this condition.

          Case presentation

          We report a case of a patient with cervical tumoral calcinosis with end-stage renal disease. A computed tomography scan showed a lobulated, calcified mass around the right facet joint at the fourth-fifth cervical spine and calcifications were also observed in the right intervertebral foramens at fourth-fifth cervical spine and fifth-sixth cervical spine levels and the anterior wall of the spinal canal. By performing a cervical decompression and stabilization, the patient recovered from her neurological symptoms.

          Conclusions

          Although tumoral calcinosis is rarely located in the spine, it should be considered in the differential diagnosis of spinal lesions. If a calcified mass causes acute neurological symptoms, resection of the mass is still the most important treatment.

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          Most cited references27

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          Proposal for a pathogenesis-based classification of tumoral calcinosis.

          Deposition of calcium in skin is currently categorized into a group of disorders referred to as calcinosis cutis. Divisions between types and subtypes within this confusing classification are predominantly based on morphologic differences in the calcification and serve to obscure pathogenesis. This is especially evident in a subtype of calcinosis cutis, known as tumoral calcinosis. Calcifications in cases of tumoral calcinosis share the following characteristics, but without evidence of a common pathogenesis: large size, juxtaarticular location, progressive enlargement over time, a tendency to recur after surgical removal, and an ability to encase adjacent normal structures. The goal of this study was to formulate a pathogenesis-based classification for cases of tumoral calcinosis. In a literature review 121 cases of tumoral calcinosis were identified. These cases, along with a case evaluated in our clinic, were reviewed retrospectively, and their features compared. Analysis suggests three pathogenetically distinct subtypes of tumoral calcinosis: (1) Primary normophosphatemic tumoral calcinosis: patients have normal serum phosphate, normal serum calcium, and no evidence of disorders previously associated with soft tissue calcification; (2) primary hyperphosphatemic tumoral calcinosis: patents have elevated serum phosphate, normal serum calcium, and no evidence of disorders previously associated with soft tissue calcification; and (3) secondary tumoral calcinosis: patients have a concurrent disease capable of causing soft tissue calcification. Justification for this classification is based on the presence or absence of disorders known to promote soft tissue calcification and statistically significant differences in family history, mean calcification number, mean serum phosphate level, and calcification recurrence after excision. A classification for tumoral calcinosis is devised that outlines potential pathogenetic mechanisms and predicts response to therapy and prognosis. Analysis of other forms of calcinosis cutis may reveal definable pathogenetic differences that suggest a coherent classification for all cutaneous calcinoses.
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            Long-term clinical outcome and phenotypic variability in hyperphosphatemic familial tumoral calcinosis and hyperphosphatemic hyperostosis syndrome caused by a novel GALNT3 mutation; case report and review of the literature

            Background Hyperphosphatemic Familial Tumoral Calcinosis (HFTC) and Hyperphosphatemic Hyperostosis Syndrome (HHS) are associated with autosomal recessive mutations in three different genes, FGF23, GALNT3 and KL, leading to reduced levels of fibroblast growth factor 23 (FGF23) and subsequent clinical effects. Results We describe a consanguineous family with two affected siblings with HFTC and HHS caused by a novel homozygous G-to T substitution in exon 3 of GALNT3 (c.767 G > T; p.Gly256Val), demonstrating great phenotypic variation and long asymptomatic intervals. Calcific tumors appeared at 14 years of age in the male, and the female displayed episodic diaphysitis from age 9 years. Symptoms of eye involvement were present in both from childhood, and progressed into band keratopathy in the female. Abnormal dental roots and tooth loss, as well as myalgia were present in both from their mid-twenties, while the female also had calcifications in the placenta, the iliac vessels and thyroid cartilage. New calcific tumors appeared more than 20 years after the initial episodes, delaying diagnosis and treatment until the ages of 37 and 50 years, respectively. Both siblings had elevated serum phosphate levels, inappropriately elevated tubular maximum phosphate reabsorption per unit glomerular filtration rate (TmP/GFR), reduced levels of intact FGF23 and increased levels of c-terminal FGF23. Review of all 54 previously published cases of GALNT3, FGF23, and KL associated HFTC and HHS demonstrated that more subjects than previously recognized have a combined phenotype. Conclusion We have described HFTC and HHS in a consanguineous Caucasian family with a novel GALNT3 mutation, demonstrating new phenotypic features and significant variability in the natural course of the disease. A review of the literature, show that more subjects than previously recognized have a combined phenotype of HFTC and HHS. HHS and HFTC are two distinct phenotypes in a spectrum of GALNT3 mutation related calcification disorders, where the additional factors determining the phenotypic expression, are yet to be clarified. Electronic supplementary material The online version of this article (doi:10.1186/s12863-014-0098-3) contains supplementary material, which is available to authorized users.
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              TUMORAL CALCINOSIS

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                Author and article information

                Contributors
                guorui300850@163.com
                ttykrt@gmail.com
                kontetsushi@me.com
                tamomushi@yahoo.co.jp
                tmiz1102@yahoo.co.jp
                sakakitoshi@mac.com
                +81-59-231-6024 , ykasai@clin.medic.mie-u.ac.jp
                Journal
                J Med Case Rep
                J Med Case Rep
                Journal of Medical Case Reports
                BioMed Central (London )
                1752-1947
                27 October 2017
                27 October 2017
                2017
                : 11
                : 304
                Affiliations
                [1 ]ISNI 0000 0004 0372 555X, GRID grid.260026.0, Department of Spinal Surgery and Medical Engineering, , Mie University Graduate School of Medicine, ; 2-174 Edobashi, Tsu City, Mie 514-8507 Japan
                [2 ]Department of Orthopaedics, The Third People’s Hospital of Kunshan, Kunshan, Jiangsu China
                [3 ]Department of Orthopaedic Surgery, Sakakibara Onsen Hospital, Tsu City, Mie Japan
                [4 ]Department of Orthopaedic Surgery, Murase Hospital, Suzuka City, Mie Japan
                Article
                1474
                10.1186/s13256-017-1474-1
                5658931
                29073937
                78f0ad02-5f60-4c67-a217-c8322049b07f
                © The Author(s). 2017

                Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License ( http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver ( http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

                History
                : 13 February 2017
                : 21 September 2017
                Categories
                Case Report
                Custom metadata
                © The Author(s) 2017

                Medicine
                tumoral calcinosis,spine,renal failure,dialysis
                Medicine
                tumoral calcinosis, spine, renal failure, dialysis

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