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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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Background: The clinical picture of intracerebral calcification is so varied that it constitutes an essential element of a wide range of clinical syndromes of variable expression that continue to be described. In this article, we discuss the diagnostic possibilities of basal ganglia calcification considering the association of failure to thrive and macular degeneration in our patient. Case: A 17-year-old male patient of Congolese origin consulted us for a pyramidal syndrome consisting of upper limb tremors during mobilization and dysgraphia. The patient also presented with a distance vision disorder for which the ophthalmological examination revealed poor visual acuity in both eyes (2/10) and macular degeneration in the left eye. On physical examination, we noted a short stature with a small head circumference in relation to age. The brain scan revealed the presence of bilateral striato-pallidal calcifications giving the appearance of Fahr's disease. However, the association of delay of stature development with microcrania, macular degeneration with reduced visual acuity and basal ganglia calcifications could suggest a wide range of syndromic hypotheses, the most likely of which is Rajab-type cerebral calcification. Conclusion: The association of failure to thrive, macular degeneration, and cerebral calcification of the basal ganglia is revealed as a particular phenotype compared to cases reported in the literature. An in-depth analysis would be necessary to identify a possible genetic basis.

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INTRODUCTION: Renal Osseous Metaplasia (OM) is a rare condition in which mature bone forms within the renal parenchyma, typically as focal cortical lesions. Although it is usually considered a spontaneous and less pathologically significant lesion, it has been observed in damaged renal allografts and other urinary tract sites. The case we present involves a native kidney with a simple renal cyst, where histopathological examination post-tumor enucleation revealed OM, emphasizing its noteworthy presence in clinical settings. CASE PRESENTATION: A 37-year-old female with a history of cesarean delivery and recent emergency surgery presented with abdominal and left flank pain. Initial ultrasound revealed a 4.2 cm anechoic cyst in the lower pole of the left kidney, which was confirmed by abdominal computed tomography (CT-scan as a well-defined fluid density cyst with a thick calcified wall. Surgical enucleoresection identified a Stoney hard mass with a unilocular cyst, histopathologically diagnosed as a simple renal cyst with metaplastic bone and hematopoietic elements. The patient had an uneventful postoperative course and remained well during the follow-up. DISCUSSION: Osseous metaplasia (OM) involves extraskeletal bone formation and is associated with factors such as chronic ischemia and inflammation. While rare in renal pathology, it occurs in native kidneys, damaged renal allografts, and the urinary tract, posing radiological challenges in differentiating it from calcification. Accurate diagnosis requires histopathological examination because of the difficulties in distinguishing OM from calcification on imaging studies. CONCLUSION: This case revealed Osseous Metaplasia in a simple cyst of the native kidney, urging vigilance in the diagnosis. While generally benign, its occurrence in damaged renal areas emphasizes its clinical significance, prompting further research. Heightened awareness and thorough examination are crucial for accurate diagnosis and patient management.

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This systematic review was performed to understand better the myriad presentations, various therapeutic options, response to therapy, and its clinical outcomes in hyperphosphatemic tumoral calcinosis (HTC). Full texts were selected according to strict inclusion criteria. All case reports of HTC wherein baseline phosphate was measured, treatment offered was mentioned, and information on follow-up and response to therapy that were available were included. A total of 43 of 188 eligible studies (N = 63 patients) met the inclusion criteria. A list of desired data was extracted and graded for methodological quality. A total of 63 individuals (Males = 33) were included from the 43 eligible case studies. The median age of the patients was 18 (IQR 8-32) years. The most frequently involved sites were the hip/gluteal region (34/63; 53.9%) followed by the elbow/forearm (26/63; 41.2%), and the shoulder (18/63; 28.5%). Three patients had conjunctival calcific deposits. The mean (SD) phosphate was 6.9 (1.1) mg/dL. Among the subjects, 36/63 (57.1%) underwent surgical excision with some form of medical therapy. Two patients underwent only surgical excision (2.1%). One patient was maintained on follow-up (1.6%) and 24/63 (38.1%) patients were treated with medical measures. The median (IQR) follow-up duration was 3 (1-9) years. Regression or reduction in lesion size was reported in 19/63 (30.2%) subjects; 20/63 (31.7%) showed progression, 24/63 (38.1%) had features of stable disease, and mortality was reported in 3 patients (4.7%). We report for the first time a detailed description of the clinical and therapeutic response of HTC. A combination of medical measures aimed at lowering serum phosphate appears to be the cornerstone of treatment, although clinical responses may vary.

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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.

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Calcinosis cutis (CC) is characterized by the deposition of calcium salts in the skin and subcutaneous tissues. CC involving the vulva or foreskin (prepuce) is uncommon. We present a 9-year-old female with vulvar CC and a 15-year-old male with preputial CC. Microscopic review of excisional specimens revealed calcification associated with follicular cysts in the vulvar case and lichen sclerosus in the preputial case, suggesting a dystrophic origin to a subset of cases of genital CC that might otherwise be classified as idiopathic. The clinical implication of these findings is the need for close histopathologic scrutiny and ongoing clinical surveillance of patients with genital CC initially deemed idiopathic.

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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.

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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.