Idiopathic calcinosis cutis of the right iliac region: Common lesion at uncommon

Calcinosis cutis is an uncommon soft tissue lesion characterized by the deposition of calcium salts in the skin or subcutaneous tissue attributed to a wide variety of causes. We present a case of idiopathic calcinosis cutis in an adult male, who presented with a swelling in the right iliac region. Chalky white aspirate and amorphous basophilic granular material on microscopy suggestive of calcium deposits were noted. Histopathological examination of the excised mass coupled with appropriate clinical background led to the final diagnosis of idiopathic calcinosis cutis. We present this case with a complete diagnostic workup to undermine the importance of considering this lesion in the differential diagnoses of a subcutaneous hard lump in an otherwise healthy patient.

Scleroderma renal crisis in a patient with paraneoplastic systemic sclerosis

The incidence of malignancy is increased in systemic sclerosis (SS). Nevertheless, only a few cases of paraneoplastic SS (pSS) have been described. Scleroderma renal crisis is an uncommon but severe complication of SS, with acute kidney failure, abrupt onset of hypertension and microangiopathy. We present the case of a previously healthy patient who was diagnosed with ovarian carcinoma and underwent chemotherapy with carboplatin and paclitaxel. In association with the cancer, she developed SS and scleroderma renal crisis. She received initial supportive treatment, but her renal function worsened, and she started on hemodialysis. Furthermore, she received adjuvant surgical treatment for the cancer. Eighty-four days after cytoreductive surgery, her renal function recovered, and her SS manifestations improved.

A Survey of Autoencoder Algorithms to Pave the Diagnosis of Rare Diseases

Rare diseases (RDs) concern a broad range of disorders and can result from various origins. For a long time, the scientific community was unaware of RDs. Impressive progress has already been made for certain RDs; however, due to the lack of sufficient knowledge, many patients are not diagnosed. Nowadays, the advances in high-throughput sequencing technologies such as whole genome sequencing, single-cell and others, have boosted the understanding of RDs. To extract biological meaning using the data generated by these methods, different analysis techniques have been proposed, including machine learning algorithms. These methods have recently proven to be valuable in the medical field. Among such approaches, unsupervised learning methods via neural networks including autoencoders (AEs) or variational autoencoders (VAEs) have shown promising performances with applications on various type of data and in different contexts, from cancer to healthy patient tissues. In this review, we discuss how AEs and VAEs have been used in biomedical settings. Specifically, we discuss their current applications and the improvements achieved in diagnostic and survival of patients. We focus on the applications in the field of RDs, and we discuss how the employment of AEs and VAEs would enhance RD understanding and diagnosis.

Treatment of Toxic Epidermal Necrolysis with Etanercept in a Pediatric Patient

Toxic epidermal necrolysis is a rare, life-threatening skin disease with no consensus on adjunctive treatment, particularly in pediatric patients. We present the case of a 13-year-old previously healthy patient with drug-associated toxic epidermal necrolysis who experienced significantly shortened length of hospital stay and duration of symptoms compared with published literature when treated with 2 doses of etanercept 50 mg during 5 days.

Extensive deep vein thrombosis and pulmonary embolism as a unique clinical manifestation of COVID-19 in a young healthy patient

Background/Objective Deep vein thrombosis and pulmonary embolism have been described as complications in previously diagnosed COVID-19 patients, especially in those admitted in critical ill units, but, to our knowledge, there is no report of venous thromboembolism in an otherwise asymptomatic COVID-19 patient. Methods We report the case of a 22-year-old female, healthy patient with pulmonary embolism (Pulmonary Embolism Severity Index Score 22 points, low risk) and extensive proximal deep vein thrombosis as a unique clinical manifestation of the new coronavirus disease. Results The patient had no risk factors and no familial history of venous thromboembolism. All thrombophilia markers were negative. The patient was treated as first by an independent vascular team, performing vena cava filter placement and open thrombectomy. Her symptoms worsened, and after 3 weeks, she underwent US-enhanced thrombolysis and mechanical thrombectomy. She was isolated for 10 days and did not develop any other clinical manifestation of COVID-19 disease. During follow-up, she remained asymptomatic and complete patency of the venous system was achieved. Full oral anticoagulation was conducted for 6 months. Conclusion COVID-19 appears to be a multi-symptomatic disease, and venous thromboembolism without any other previous described COVID-19 symptom could be considered one of its diverse clinical presentations and RT-PCR for SARS-CoV-2 tests emerge to be mandatory in patients with otherwise unexpected venous thrombosis.

Pseudomonas luteola Bacteremia in Newly Diagnosed Systemic Lupus Erythematosus

Pseudomonas luteola is rarely considered as a human pathogen.There are only fewer than twenty reported cases of P. luteola infections since 1950. It has been described in both immunocompromised and immunocompetent patients as a cause of both nosocomial and community-acquired infections. We report a rare case of P. luteola infection in a previously healthy patient who was admitted to hospital with a first presentation of Systemic Lupus Erythematosus (SLE) presenting with P. luteola bacteremia.

Descending mediastinitis secondary to deep neck abscess in a healthy patient: Case report

Necrotizing descending mediastinitis is an emergency which can be fatal in most cases. 80% to 85% of patients who develop descending necrotizing mediastinitis are young, previously healthy persons. We present the case of a healthy patient who, after a neck abscess, developed descending necrotizing mediastinitis complicated by atypical interstitial pneumonia.