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.

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.

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.

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.

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.

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.

Clinical Characteristics, Therapeutic Options, and Outcomes in Hyperphosphatemic Tumoral Calcinosis: A Systematic Review.

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.

A very rare case of bone metaplasia of renal cyst: A case report.

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.

Pseudotumoral calcinosis of the elbow with ulnar and radial nerve deficits.

We report here a rare case of an acute peripheral nerve compression by pseudotumoral calcinosis (PCT) at the right elbow in a patient with severe tertiary hyperaparathyroidism. This complication required urgent multidisciplinary management. Surgical decompression by PCT resection enabled rapid motor and sensory recovery.

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.

Genital calcinosis cutis: Microscopic evidence supporting a dystrophic origin.

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.

Intracerebral Calcifications Associated with Failure to Thrive and Macular Degeneration in an Adolescent: A Case Report.

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.

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.

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.

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.

Surgical Management of Tumoral Calcinosis of the Hand: A Case Report.

Primary tumoral calcinosis is a rare and benign condition characterized by calcium salt deposition in periarticular soft tissues. It typically presents as a firm, rubbery mass that arises around large joints. While an estimated 250 cases have been described since its discovery, very few cases have been identified in the hand. We present a case of multiple calcified masses in the hand, one of which required meticulous dissection from a digital neurovascular bundle, and our technique for surgical excision. We present this case to lower the threshold for clinical suspicion of tumoral calcinosis for patients who present with a soft tissue mass in the hand. Furthermore, we recommend prompt surgical excision due to low success rates of alternative treatment options and to prevent potential neurovasculature or tendon injury.

ULTRASOUND IMAGING AND PATHOLOGIC FEATURES OF IDIOPATHIC SCROTAL CALCINOSIS IN A YOUNG ADULT NIGERIAN AND REVIEW OF THE LITERATURE.

Background: Idiopathic scrotal calcinosis is a rare and benign disease of the scrotal skin that presents as solitary or multiple painless calcified nodules or papules in the absence of systemic disorders of calcium or phosphorus metabolism. Although some theories have been proposed as to the cause of this rare disease, the exact cause remains unknown. In a resource-poor medical setting like Nigeria, a confident diagnosis of this condition can be made with ultrasonography. Objective: The objective of this report is to emphasize the role of ultrasound in the imaging diagnosis of idiopathic scrotal calcinosis. Case Presentation: This is a case report of a 38-year-old man who presented with recently discharging but longstanding multiple painless scrotal nodules of 22-years duration. Conclusion: This case illustrates the prompt and accurate diagnosis of idiopathic scrotal calcinosis using an ultrasound, a readily available imaging modality in a low-resource setting.Although histology remains the gold-standard for diagnosing idiopathic scrotal calcinosis following surgical excision, this benign disorder has unique sonographic characteristics that could aid the radiologist in making a confident diagnosis.

[Dystrophic calcification of the parotid salivary glands in Sjogren's disease]. / Distroficheskaya kal'tsifikatsiya okoloushnykh slyunnykh zhelez pri bolezni Shegrena.

This article discusses a rare clinical case of differential diagnosis between salivary stone disease and calcinosis, which developed against the background of autoimmune pathology. Diagnosis of these pathologies causes difficulties for practitioners, and treatment methods have fundamental differences. In this regard, the description of this case is relevant and significant. The algorithm of the main and additional research methods to confirm the diagnosis is described.