-
1.
The First Report of Calcified Amorphous Tumor Associated with Infective Endocarditis: A Case Report and Review of Literature.
Okazaki, A, Oyama, Y, Hosokawa, N, Ban, H, Miyaji, Y, Moody, S
The American journal of case reports. 2020;:e922960
Abstract
BACKGROUND Calcified amorphous tumor (CAT) of the heart is a rare non-neoplastic intracardiac mass, which is composed of calcium deposition surrounded by amorphous fibrous tissue. The clinical presentation of cardiac CAT resembles that of other cardiac tumors or vegetation, though there is no previous report of a CAT complicated with infective endocarditis. CASE REPORT A 67-year-old male with a history of end stage renal failure and gastric cancer who was on adjuvant chemotherapy presented with a cardiac mass. The mass was resected and diagnosed as CAT pathologically. Two separate sets of blood cultures were positive for Enterococcus faecalis, thus, the patient was diagnosed with infective endocarditis. Antibiotic treatment was continued for 6 weeks after surgery, and the patient recovered uneventfully. However, he died from a complication of his gastric cancer 5 months later. CONCLUSIONS This is the first report of CAT associated with infective endocarditis. Blood cultures should be obtained to differentiate infective endocarditis or CAT with infectious endocarditis from CAT alone, because CAT with infective endocarditis may present atypically and may be more likely to require antibiotic treatment along with surgery.
-
2.
Acute calcific periarthritis of the proximal phalangeal joint on the fifth finger: A case report and literature review.
Tomori, Y, Nanno, M, Takai, S
Medicine. 2020;(31):e21477
-
-
Free full text
-
Abstract
RATIONALE Acute calcium deposits, including acute calcific periarthritis or acute calcific peritendinitis, are benign calcifying soft tissue lesions that have a self-resolving course. These calcifying lesions usually develop in the shoulder, while acute calcific periarthritis in the digits is uncommon. When acute calcific periarthritis involves the digits, the lesion occasionally mimics other benign calcifying or ossifying lesions and can easily be misdiagnosed, resulting in unnecessary diagnostic studies and treatment. We present a rare case of acute calcific periarthritis around the proximal phalangeal joint of the left fifth finger that took a long time to spontaneously resolve, and review previous reports of similar cases. PATIENT CONCERNS A 69-year-old woman complained of longstanding pain and swelling of the fifth finger of the left hand. She had visited several clinics and hospitals and had been treated with analgesics and splinting for more than 2 months, but the pain in the finger had gradually worsened. DIAGNOSES Blood chemistry analysis showed no signs of inflammation or other abnormalities. Radiographs revealed a well-defined subcutaneous calcifying lesion without bony destruction, suggesting a benign calcification process. Computed tomography and magnetic resonance imaging led to a diagnosis of acute calcific periarthritis of the proximal interphalangeal joint of the fifth finger. INTERVENTIONS An excisional biopsy was recommended to achieve a definitive diagnosis, but this was declined by the patient. Thus, no invasive treatments were administered, and she was treated with analgesics and encouraged to massage the affected finger. OUTCOMES The pain gradually improved, and follow-up radiographs showed complete disappearance of the calcifying mass 6 months after the initial visit to our hospital, without recurrence during a follow-up period of more than 2 years. LESSONS Acute calcific periarthritis is diagnosed based on history, clinical examination, and imaging findings, which provide evidence for the diagnosis of calcium deposition in the digits even if the lesions have been present for a long time. Watchful observation is an appropriate treatment strategy for acute calcific periarthritis of the digits.
-
3.
Crowned dens syndrome: a neurologist's perspective.
Scheldeman, L, Van Hoydonck, M, Vanheste, R, Theys, T, Cypers, G
Acta neurologica Belgica. 2019;(4):561-565
Abstract
Crowned dens syndrome is an under-recognized entity that can mimic neurological disease, in particular meningitis or giant-cell arteritis. We present a 48-year-old woman presenting with an inflammatory meningitis-like syndrome with headache and neck stiffness. Lumbar puncture was normal and computed tomography (CT) of the atlantoaxial joint showed abnormal calcifications around the odontoid process, leading to a tentative diagnosis of crowned dens syndrome. In addition, signs of active inflammation in and around the dens were present on cervical MR imaging. Since CDS can mimic meningitis or giant-cell arteritis, neurologists should be aware of this entity. If CDS is suspected, the bone window on the head CT scan can lead to the diagnosis. On the other hand, asymptomatic periodontoid calcifications are common and should not preclude further investigations.
-
4.
Intracranial vascular calcification with extensive white matter changes in an autopsy case of pseudopseudohypoparathyroidism.
Iwase, T, Yoshida, M, Hashizume, Y, Yazawa, I, Takahashi, S, Ando, T, Ikeda, T, Nokura, K
Neuropathology : official journal of the Japanese Society of Neuropathology. 2019;(1):39-46
Abstract
We herein report an autopsy case of a 69-year-old man with pseudopseudohypoparathyroidism. The patient suffered from mental retardation and spastic tetraparesis and had all the features of Albright's hereditary osteodystrophy with a normal response to parathyroid hormone in the Ellsworth-Howard test. Computed tomography demonstrated symmetrical massive brain calcification involving the bilateral basal ganglia, thalami, dentate nuclei and cerebral gray/white matter junctions, which was consistent with Fahr's syndrome. Magnetic resonance imaging revealed extensive white matter changes sparing the corpus callosum. Severe ossification of the posterior longitudinal ligament of the cervical spine was also demonstrated. A neuropathological examination revealed massive intracranial calcification within the walls of the blood vessels and capillaries with numerous calcium deposits. The calcium deposits aligned along the capillaries, and deposits in the vessel wall at the initial stage were confined to the border between the tunica media and adventitia. The vascular calcification in the basal ganglia continuously spread over the surrounding white matter into the cortex. The area of vascular calcification in the white matter was very well correlated with the area of the attenuated myelin staining. Axonal loss, myelin sheath loss and gliosis were observed in the white matter with severe vascular calcification. We should recognize the continuous area of vascular calcification and its correlation with extensive white matter changes as possible causes of neuropsychiatric symptoms in pseudopseudohypoparathyroidism with Fahr's syndrome.
-
5.
Pulmonary Alveolar Microlithiasis - Clinico-Radiological dissociation - A case report with Radiological review.
Khaladkar, SM, Kondapavuluri, SK, Kamal, A, Kalra, R, Kuber, R
Journal of radiology case reports. 2016;(1):14-21
Abstract
Pulmonary alveolar microlithiasis (PAM) is a rare chronic lung disease characterized by deposition of intra alveolar calcium and phosphate in bilateral lung parenchyma with predominance in lower and mid zones. Etiology and pathogenesis is not fully understood. However, mutation in SLC34A2 gene that encodes a sodium phosphate co-transporter in alveolar type-II cells resulting in formation and accumulation of microliths rich in calcium phosphate due to impaired clearance is considered the cause of disease. Patients with PAM are asymptomatic till development of hypoxemia and cor pulmonale. It remains static, while in some it progresses to pulmonary fibrosis, respiratory failure and cor pulmonale. We report a case of 44 year old male patient presenting with progressive shortness of breath on exertion for one year in duration with dry cough, more since last six months. Chest radiograph showed dense micronodular opacities giving classical sandstorm appearance. High resolution computed tomography (HRCT) showed microcalcification, subpleural cystic changes and calcified pleura. Lung biopsy showed calcospherites within alveolar spaces.
-
6.
Calcinosis cutis presenting in the context of long-term therapy for chronic myeloid leukemia: a case report and review of the literature.
Altman, I, Lee, IH, Burns, MR, Rondelli, D, Ennis, WJ
Wounds : a compendium of clinical research and practice. 2015;(2):20-5
Abstract
Calcinosis cutis is a poorly understood process in which calcium salts deposit in the skin and subcutaneous tissues. Due to its multifactorial pathogenesis, several subtypes and potential etiologies have been described. Presented here is a case of bilateral pretibial calcinosis cutis in a patient on long-term tyrosine kinase inhibitor therapy for chronic myeloid leukemia. The patient initially presented with a right tibial ulceration treated with multiple surgical debridements, antibiotics, and negative pressure wound therapy. The wound was ultimately closed with a split-thickness skin graft. Relevant literature is examined and several possible mechanisms are discussed.
-
7.
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.
Rafaelsen, S, Johansson, S, Ræder, H, Bjerknes, R
BMC genetics. 2014;:98
Abstract
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.
-
8.
SLC34A2 Gene mutation of pulmonary alveolar microlithiasis: report of four cases and review of literatures.
Yin, X, Wang, H, Wu, D, Zhao, G, Shao, J, Dai, Y
Respiratory medicine. 2013;(2):217-22
Abstract
Pulmonary alveolar microlithiasis (PAM) is a rare autosomal recessive disorder characterized by the deposition of calcium phosphate microliths throughout the lungs. Currently the mutation of SLC34A2 gene was considered responsible for PAM. Here we reported the studies on mutation analysis of the SLC34A2 gene in three familial members and one unrelated subject of PAM by DNA direct sequencing. Meanwhile, we also reviewed and analyzed the published studies of the SLC34A2 gene mutation in PAM patients. The three familial patients were siblings of an inbred family whose parents were cousins. All four patients presented recurrent cough and exertional dyspnea. Diagnosis of PAM was made according to the typical manifestation of radiology. One homozygous mutation of the SLC34A2 gene, c.910A > T (p.K304X) was identified. The review of the SLC34A2 gene mutation showed multiple mutation symbols in PAM patients from China, Turkey, and Japan respectively. The present study supports that the clinical features, pathological and radiological characteristics of Chinese PAM patients are similar to those reported in other countries. Our investigation revealed that the c.910A > T mutation in the SCL34A2 gene was responsible for PAM patients in China. The review of literatures suggests that exon7 and exon8 seemed liable to be affected typical Mongoloid of PAM, and exon8 might be the screen target for Chinese patients.
-
9.
Pulmonary alveolar microlithiasis and probe-based confocal laser endomicroscopy.
Yserbyt, J, Alamé, T, Dooms, C, Ninane, V
Journal of bronchology & interventional pulmonology. 2013;(2):159-63
Abstract
Pulmonary alveolar microlithiasis (PAM) is a rare disease in which calcium-phosphate microliths accumulate within the alveolar space. We report cases of 2 siblings with PAM, presenting differently as regards the distribution and clinical severity. Immune cytologic analysis of bronchoalveolar lavage showed a CD4 alveolitis in the radiologically most affected patient, whereas the least affected had a normal bronchoalveolar lavage analysis, demonstrating the low specificity of immune cytologic lavage analysis in diagnosing familial PAM. For the first time, we describe the endoscopic findings using a probe-based confocal laser endomicroscopy.
-
10.
Calcium may preferentially deposit in areas of elastic tissue damage.
Pugashetti, R, Shinkai, K, Ruben, BS, Grossman, ME, Maldonado, J, Fox, LP
Journal of the American Academy of Dermatology. 2011;(2):296-301
Abstract
BACKGROUND Cutaneous calcification is an acquired disorder whereby insoluble, amorphous calcium salts deposit in the skin. Classically, cutaneous calcification is categorized as metastatic, dystrophic, idiopathic, or iatrogenic. OBJECTIVE The purpose of this study was to further elucidate the underlying pathogenic mechanism for cutaneous calcification. METHODS Three cases of cutaneous calcification, including clinical characteristics and associated histopathology, were reviewed. Previous reports of cutaneous calcification were searched for in the published literature and included. RESULTS Calcium is distributed within areas of underlying tissue damage (ie, locus minoris resistentiae), and in our cases, occurred specifically at sites of chronic actinic damage and intravenous extravasation tissue injury. LIMITATIONS A small number of clinical cases and previously published reports were reviewed. CONCLUSION We hypothesize that cutaneous calcification may preferentially occur at anatomic sites where tissue integrity has been compromised (ie, locus minoris resistentiae). We suggest one potential mechanism: that cutaneous calcification occurs within dermis that contains damaged elastic fibers. Pseudoxanthoma elasticum may serve as a possible genetic disease model for this process.