Calcinosis Universalis Secondary to Silicone Injections in a Patient With HIV and Chronic Kidney Disease: A Case Report of Silicone-Induced Hypercalcemia.

Medical literature has long reported evidence of complications associated with cosmetic procedures, including silicone injections. Recent years have seen an increase in case reports involving hypercalcemia resulting from these injections. A common current hypothesis for the development of hypercalcemia associated with silicone injections is granulomatous inflammation against a foreign body.  This report aimed to describe the case of a 44-year-old African American male with human immunodeficiency virus (HIV) and chronic kidney disease (CKD) who presented to our hospital and was diagnosed with calcinosis universalis secondary to a history of silicone injections, as well as to present a literature review of silicone-induced hypercalcemia. This was a case report (n=1) from a large academic medical center for which the patient, who first presented in May 2023, had two inpatient admissions and two outpatient visits before being lost to follow-up. Relevant images, laboratory results, and treatments were included.  The patient's history was significant for HIV, hypertension, CKD, recurrent nephrolithiasis, and tobacco use disorder. Physical examination was positive for flank pain while labs were significant for Na 137 mmol/L, K 2.7 mmol/L, blood urea nitrogen (BUN) 28 mg/dL, creatinine 3.72 mg/dL, calcium 13.4 mg/dL, hemoglobin 9.3 g/dL, white blood cell count 6,700 u/L and platelet count 105,000 u/L. Renal ultrasound revealed bilateral nephrolithiasis and left-sided hydronephrosis. Computerized tomography (CT) upon admission showed hyperlucid deposits in the bilateral gluteal area. Initial management included intravenous (IV) fluids and one dose of IV pamidronate, which resulted in reduced calcium levels during the admission. Subsequent management included outpatient follow-up with endocrinology during which denosumab was prescribed. This case had similar findings to other reports in the literature detailing silicone-induced hypercalcemia, which also reported abnormal imaging or nephrolithiasis, low-normal parathyroid hormone (PTH), normal 25-hydroxyvitamin D, and elevated 1,25-dihydroxyvitamin D. Silicone injection-induced hypercalcemia should be considered as a differential diagnosis in patients presenting with otherwise unexplained elevated serum calcium and a history of past cosmetic procedures. If suspected, the use of imaging techniques (e.g. positron emission tomography (PET) scans or MRI) may help ascertain the diagnosis. Further research is needed to determine the most appropriate therapies for complex patients such as those with immunodeficiency or renal disease.

A Rare Case of Tumoral Calcinosis in a Chronic Hemodialysis Patient.

Tumor calcinosis is a rare condition. It is characterized by the presence of calcified masses in the juxta-articular regions without joint involvement. It particularly affects young adults and adolescents. Its exact pathogenesis remains poorly defined. The diagnosis is suspected clinically and radiologically but confirmed by histological examination. The treatment is mainly surgical, and the prognosis is often good. We report the original case of a chronic hemodialysis patient presenting with tumoral calcinosis by discussing our diagnostic and therapeutic approach according to data from the recent scientific literature.

Excessive collagen fiber deposition in idiopathic scrotal calcinosis: a case report.

BACKGROUND: Idiopathic scrotal calcinosis (ISC) is a manifestation of idiopathic calcinosis cutis, and its etiology is still unknown. CASE PRESENTATION: We report a 36-year-old patient manifested multiple gradually increasing yellowish-white scrotal nodules with occasional itching and stinging in the past 6 years and was successfully cured via surgical excision. The laboratory test combined with pathological analysis confirmed the diagnosis of ISC. Like pathological calcinosis in other soft tissues, a large amount of collagen fiber deposition was observed around the calcification nodule, suggesting that abnormal collagen fiber deposition might be an important factor leading to idiopathic calcinosis in the scrotum. Moreover, koilocytes, which indicate human papillomavirus (HPV) infection, were also detected around calcified nodules, indicating the potential pathogenic role of HPV infection in ISC. CONCLUSIONS: Here, we report that ISC shows abnormal excessive deposition of collagen fibers around calcified nodules, which may be a vital factor contributing to the disease. Furthermore, combined with the literature review, a new pathogenic mechanism of ISC is proposed, and the site specificity of scrotal calcinosis is explained, providing a basis for further exploration of the pathogenic mechanism of ISC.

Myocardial infarction and narrowed peripheral arterial vessels secondary to generalised arterial calcification syndrome in a two-month-old girl.

Generalised arterial calcification of infancy, an autosomal recessive disorder characterised by abnormal calcification of medium and large-sized arteries, represents a rare cause of dilated cardiomyopathy. We present the case of a two-month-old girl diagnosed posthumously with dilated cardiomyopathy. Studies suggest that early initiation of treatment can improve prognosis in generalised arterial calcification of infancy, so clinicians should be alert to the condition, especially in patients displaying generalised narrowing of medium and large-sized arteries.

Calcinosis Cutis Inducing "Syringomatoid" Eccrine Hyperplasia: An Extremely Rare Example.

Reactive "syringomatoid" eccrine proliferations are a well-established phenomenon, which can show similar but less extensive histological features of a syringoma. The cut-off between syringomatoid hyperplasia and syringomas is subjective and given the considerable morphological overlap, it is possible they represent two points on the same spectrum. Syringomatoid hyperplasia has been associated with several conditions including neoplasms and inflammatory dermatoses. Herein, we describe an extremely rare case of syringomatoid hyperplasia occurring with calcinosis cutis in a 54-year-old Caucasian male. To the best of the authors' knowledge, this is the first such case described in the literature.

Familial hyperphosphatemic tumoral calcinosis: A rare case report from Syria.

Key Clinical Message: Tumoral calcinosis is a very rare disease mainly caused by a disturbance in phosphate metabolism. It is advisable to contemplate screening more organs such as testes, thyroid, and spleen in patients with TC. This study provides insight into tumoral calcinosis for physicians in the region and encourages future work on the matter. Abstract: Familial hyperphosphatemic tumoral calcinosis (FHTC) characterized by progressive deposition of calcium phosphate crystals in soft tissues. Tumoral calcinosis (TC) is often underdiagnosed in Syria as it cannot be confirmed without genetic testing, which is unavailable in Syria. We present the first reported case from Syria of a man with TC. This case has findings that were not reported in other cases such as testicular calcification, brain calcification, enlarged thyroid, and splenomegaly. Determining these genes in the case presented wasn't possible and future studies need to overcome this hurdle.

Tumoral calcinosis in chronic renal failure: A case report and literature review.

INTRODUCTION AND IMPORTANCE: Tumor calcinosis is a rare and benign disorder characterized by calcified periarticular soft tissue masses. It may be idiopathic or caused by a condition known as hyperphosphatemia. There is still no definitive guideline for treating this disease, with excision being one of the primary treatment modalities. CASE PRESENTATION: 2 patients with a history of longstanding diabetes and dialysis presented with a painless lump on their right buttock, measuring 18 × 30 cm in the right gluteal region. Laboratory examinations showed a high ureum, creatinine, and serum phosphate. A radiograph revealed opacity on the right hip joint, without involvement of the proximal femur bone. A biopsy confirmed the diagnosis of tumor calcinosis. Both patients were treated with calcium carbonate to control their high serum phosphate levels. Both patients showed excellent tumor control without progression. CLINICAL DISCUSSION: Tumoral calcinosis (TC) is an extra-articular benign but aggressive tumor. The precise mechanism of TC remains unknown, which partly explains the lack of established treatment modality. We treat our patients with calcium carbonate to reduce the serum phosphate and treat the tumor without surgery. The treatment yielded a satisfactory clinical result. CONCLUSION: This study showed that a secondary TC may be conservatively treated without any surgical excision if we address the underlying problem. But it may not result in a reduction of the tumor's size.

A Rare Case of Isolated Extrapulmonary Sarcoidosis With Renal Involvement Sans Pulmonary Findings: Diagnostic Challenges and Clinical Insights.

The cause of sarcoidosis is unknown, and it affects multiple systems with granulomas. Lung lesions are typical, but extrapulmonary findings, especially lymphadenopathy, are present in a significant number of cases. Isolated renal involvement is rare. The presence of noncaseating granulomas on biopsy is a hallmark of sarcoidosis. We present the case of a 59-year-old male with recurrent renal stones who presented with renal failure. The initial diagnosis was challenging due to normal chest imaging and no pulmonary involvement. However, his delayed presentation of calcinosis cutis, an increase in angiotensin-converting enzyme (ACE) level, and the biopsy of the palm lesion with noncaseating granulomas helped us reach the diagnosis. He was started on prednisolone and achieved remission. The report also intends to show that patients with sarcoidosis can present without lung involvement, and physicians should consider sarcoidosis as their differential diagnosis for idiopathic hypercalcemia even if it has no lung or skin findings.

Intravenous treatment of calcinosis cutis with sodium thiosulfate - A case series.

Calcinosis cutis is defined as the deposition of calcium salts in the skin. The dystrophic form is the most common and usually occurs in chronic inflammatory processes associated with collagenoses. Therapeutic options include surgical excision as well as a few pharmacological treatments. Overall, the evidence for the known therapeutic interventions is very limited and there is a lack of valid recommendations. Intravenous sodium thiosulfate has been used successfully in the treatment of calciphylaxis. In our case series, five patients with dystrophic calcinosis cutis received intravenous sodium thiosulfate for at least six cycles on five consecutive days per month, with single doses of 12.5 g and 25.0 g, respectively. A reduction in the calcified lesions could not be proven with certainty, but stable disease conditions were achieved. Intravenous sodium thiosulfate may counteract the progression of calcinosis cutis. The successful use of epicutaneously applied sodium thiosulfate, as described in the literature, suggests that a higher cutaneous bioavailability can be achieved to exert a lytic effect on calcinosis cutis. This is further supported by the reported efficacy of high-dose sodium thiosulfate in the treatment of calciphylaxis.

Feline dystrophin-deficient muscular dystrophy misdiagnosed as Toxoplasma myositis.

Case summary: A 6-month-old male entire domestic shorthair cat presented for presumptive Toxoplasma myopathy that was non-responsive to antiprotozoal therapy. Clinical features included marked macroglossia, dysphagia, regurgitation, truncal muscle hypertrophy, pelvic limb gait abnormalities and megaoesophagus. Relevant diagnostics included serial creatine kinase activity, cardiac troponin I, fluoroscopic swallow study and routine muscle histopathology. Ultimately, post-mortem histopathology with immunostaining demonstrated markedly decreased or absent staining for the rod and carboxy terminus of dystrophin, confirming a dystrophin-deficient muscular dystrophy (MD). The misdiagnosis of toxoplasmosis was based on an increased IgG titre and muscle histopathology submitted to a local laboratory. Treatment for megaoesophagus included vertical feeding of wet food only, sildenafil and omeprazole. Dysphagia and regurgitation improved moderately. Presumptive hyperaesthesia and muscle pain were managed with anti-inflammatory doses of prednisolone. The patient was ultimately euthanased as a result of progressive MD signs and uraemia at 2 years of age. Relevance and novel information: This case report highlights the collective clinical features of MD, as they could be considered pathognomonic for this rare condition and must be differentiated from other myopathies via specific immunostaining of muscle biopsies. This is crucial to obtain a correct and early diagnosis, allowing instigation of potentially valuable treatments. Megaoesophagus is an inconsistent feature in feline MD in addition to the more commonly observed oropharyngeal dysphagia. Management with a canned diet, sildenafil, omeprazole and upright feeding was beneficial with moderate improvement in the frequency of regurgitation. Prednisolone was thought to minimise the presumptive myalgia.

Hybrid approach to deep vein arterialization as an adjunct for patients with severe medial calcinosis.

Patients with no-option chronic limb-threatening ischemia are not candidates for conventional revascularization options and will inevitably require major amputation. Deep venous arterialization (DVA) is a potential option for these patients. A complete endovascular system to perform DVA has recently received great acclaim and US Foor and Drug Administration approval. However, patients with severe tibial medial calcinosis such as those with diabetes or renal failure may not be candidates for this because most endovascular needles cannot penetrate severe calcium. Here we describe a novel hybrid approach to DVA that provided technical success in three patients with end-stage renal disease and severe medial calcinosis.

Hand Infections in End-Stage Renal Disease-Consider Tumoral Calcinosis.

Tumoral calcinosis (TC) is a rare condition defined by the accumulation of calcium salts in soft tissues surrounding joints, most commonly large joints. Chronic joint inflammation in the setting of local hyperphosphatemia leads to interruption and dysfunction of tissue repair and generates breakdown products that subsequently calcify and accumulate. We present a case of a 42-year-old man with a history of end-stage renal disease on dialysis presenting to the clinic with a painless digital mass of his right long finger at the proximal interphalangeal joint. Our initial impression was a splinter abscess based on presentation and patient history. Although our patient's presentation of traumatic, painless TC of the hand secondary to end-stage renal disease is rare, the pathogenic mechanisms behind TC support this presentation. The authors recommend including TC within the differential of presentations similar to that of chronic abscess or giant cell tumor, especially when their medical history includes end-stage renal disease.

The value of perforator flap reconstruction in painful soft tissue calcifications.

Soft tissue calcifications frequently cause debilitating pain and functional impairments, considerably affecting patients' quality of life. As they are rare entities, evidence remains sparse, especially regarding treatment effectiveness and recurrence rates. While both pharmacological and surgical treatments may alleviate symptoms, complete resection is currently believed to prevent long-term recurrence of deposits. To improve understanding and raise awareness for soft tissue calcifications, the goal of this study was to review the current state of treatment and to compare benefits and possibilities of flap reconstruction versus simple excision in improving quality of life. Furthermore, we include a successful case report of complete resolution of symptoms following quadruple perforator flap reconstruction. By systematic literature review, studies published in MEDLINE between 1980 and 2024 reporting on surgical treatment and outcome of soft tissue calcifications were included, in addition to a detailed description of our case report. A total of 53 studies reporting on 197 patients with soft tissue calcifications were included. Simple surgical excision was the most commonly (85.9%) employed procedure, demonstrating a substantial recurrence rate of 13.3%. In contrast, no patients who underwent radical excision experienced recurrence. Dermal matrix grafts and flap reconstruction were successfully used in patients requiring substantial tissue coverage, highlighting their value in complex defect reconstruction following radical excision. The combination of complete surgical resection and flap reconstruction reduces recurrence rates and improves postoperative outcomes and quality of life of these patients, supporting early radical surgical intervention as the gold standard treatment for soft tissue calcifications.

In vivo mapping of the mouse Galnt3-specific O-glycoproteome.

The UDP-N-acetylgalactosamine polypeptide:N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes initiates O-linked glycosylation by catalyzing the addition of the first GalNAc sugar to serine or threonine on proteins destined to be membrane-bound or secreted. Defects in individual isoforms of the GalNAc-T family can lead to certain congenital disorders of glycosylation (CDG). The polypeptide N-acetylgalactosaminyltransferase 3 (GALNT)3-CDG, is caused by mutations in GALNT3, resulting in hyperphosphatemic familial tumoral calcinosis due to impaired glycosylation of the phosphate-regulating hormone fibroblast growth factor 23 (FGF23) within osteocytes of the bone. Patients with hyperphosphatemia present altered bone density, abnormal tooth structure, and calcified masses throughout the body. It is therefore important to identify all potential substrates of GalNAc-T3 throughout the body to understand the complex disease phenotypes. Here, we compared the Galnt3-/- mouse model, which partially phenocopies GALNT3-CDG, with WT mice and used a multicomponent approach using chemoenzymatic conditions, a product-dependent method constructed using EThcD triggered scans in a mass spectrometry workflow, quantitative O-glycoproteomics, and global proteomics to identify 663 Galnt3-specific O-glycosites from 269 glycoproteins across multiple tissues. Consistent with the mouse and human phenotypes, functional networks of glycoproteins that contain GalNAc-T3-specific O-glycosites involved in skeletal morphology, mineral level maintenance, and hemostasis were identified. This library of in vivo GalNAc-T3-specific substrate proteins and O-glycosites will serve as a valuable resource to understand the functional implications of O-glycosylation and to unravel the underlying causes of complex human GALNT3-CDG phenotypes.

Eruptive syringomas with associated calcinosis cutis-A case report and literature review of this association.

We report the case of a 9-year-old boy presenting with eruptive syringomas and macroscopic lesions of calcinosis cutis resembling subepidermal calcified nodules. Literature review revealed eruptive syringomas can be associated with calcinosis cutis with several different presentations. In this report, we review the five different presentations and associations of eruptive syringomas and calcinosis cutis, which to our knowledge has not been categorized before.

A Rare Case of Calcinosis Cutis Presenting to a Tertiary Care Hospital in Rural Maharashtra.

Calcinosis cutis is a common ailment of the skin, caused by the accumulation of calcium salts in the subcutaneous regions, though there are rare case reports from rural Maharashtra region. This condition is usually asymptomatic and might manifest as a single growth or several different-sized growths. Its clinical presentation is observed as nodules or plaques without causing injury to underlying tissues. The condition is reported to be a secondary presentation to trauma, malignancies, and connective tissue diseases and has multifactorial underlying etiologies. Recommendation for treatments including both medical and surgical procedures is contingent upon the manifestation and severity of the condition. The final decision can be based on the results obtained from diagnostic modalities like fine needle aspiration and radiological imaging. This is the case of a 35-year-old male with a swelling on his left foot for the past two years without any associated medical history. The patient was managed by surgical incision and had a good recovery.

Imaging findings of acute calcific periarthritis, with emphasis on magnetic resonance imaging: pictorial essay.

Acute calcific periarthritis (ACP) is defined as periarticular inflammation associated with intra-articular deposits of hydroxyapatite and other basic calcium phosphate crystals. Patients with ACP present with a sudden onset of pain, together with localized swelling, as well as erythema, tenderness, and reduced range of motion. Familiarity with the clinical and radiological manifestations of ACP aids in the diagnosis and helps differentiate it from other conditions, particularly infectious or inflammatory pathologies such as septic arthritis and gout, thereby reducing the number of unnecessary diagnostic and therapeutic procedures. The objective of this pictorial essay is to illustrate the imaging findings of ACP in various joints, with an emphasis on the findings obtained by magnetic resonance imaging.

A periartrite cálcica aguda (PCA) é uma inflamação periarticular aguda associada a depósitos justa-articulares de hidroxiapatita e outros cristais básicos de fosfato de cálcio. Os pacientes apresentam início súbito de dor, edema localizado, eritema, sensibilidade e redução da amplitude de movimentos. A familiaridade com as manifestações clínicas e radiológicas da PCA facilita o diagnóstico e permite diferenciá-la de outras entidades, em particular, com doenças infecciosas ou inflamatórias, como artrite séptica e gota, reduzindo procedimentos diagnósticos e terapêuticos desnecessários. O objetivo deste ensaio iconográfico é ilustrar os achados de imagem de PCA em algumas articulações, com ênfase na ressonância magnética.

Pulmonary Alveolar Microlithiasis in a Young Man Undergoing Lung Transplantation: A Case Report.

Pulmonary alveolar microlithiasis is a rare disease characterized by the deposition of microliths in the alveoli, attributed to mutations in the solute carrier family 34 member 2 (SLC34A2) gene. Diagnosis is often incidental to chest imaging, most frequently occurring between the second and fourth decades of life. The disease follows a progressive course and manifests with a clinical-radiological dissociation. No effective treatment is known except for lung transplantation.We report on a 28-year-old Hispanic male patient with no relevant personal or family history, presenting with progressive exertional dyspnea and intermittent dry cough. He was referred for evaluation by pulmonology due to abnormal findings on chest x-ray. High-resolution computed tomography revealed diffuse lung opacities caused by multiple microcalcifications, suggesting pulmonary alveolar microlithiasis with additional signs of pulmonary hypertension. Throughout his clinical course, he experienced a decline in functional class with severe impairment in pulmonary function tests. He underwent transplant evaluation, and the procedure was performed, with reported complications including airway stenosis, which were managed. Despite these challenges, the patient eventually showed positive progress and maintained an adequate functional class.Pulmonary alveolar microlithiasis is a rare disease with a chronic clinical course and variable manifestations. Its progressive deterioration leads to chronic respiratory failure. A high index of suspicion is required when evaluating characteristic radiological findings and conducting relevant differential diagnoses. No specific treatment guidelines are available, and lung transplantation emerges as the only effective therapy, as illustrated in the described patient.