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Bartter syndrome is a rare genetic disorder that often presents in the early phase of life and is caused by mutations in multiple genes encoding the transporters and channels, which are responsible for the reabsorption of various ions in the nephrons. Clinically, it presents with vomiting, failure to thrive, and dehydration. Rare instances of acquired Bartter syndrome have been linked to sarcoidosis, tuberculosis, and autoimmune diseases.

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Periorificial dermatitis in infants and preschoolers - a narrative review.

Eur J Pediatr

January 2025

Department of Dermatology & Allergology, Städtisches Klinikum Dresden, Academic Teaching Hospital, Dresden, Germany.

Periorifical dermatitis (POD) is a papular, chronic inflammatory skin disease commonly seen in women in their 2nd to 4th decade of life. The major differential diagnosis is persistent acne. In children, POD is less common than in adults.

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Sarcoidosis is a chronic granulomatous disease with multisystemic involvement with unspecified aetiology. Pancreatic involvement is a rare manifestation of systemic sarcoidosis and is often detected in postmortem studies. This clearly implies the rarity of the disease and its diagnostic challenges.

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Refining the clinical and therapeutic spectrum of granulomatous myositis from a large cohort of patients.

J Neurol

January 2025

Sorbonne Université, Assistance Publique, Hôpitaux de Paris, Inserm U974, Department of Internal Medicine and Clinical Immunology, Pitié-Salpêtrière University Hospital, Paris, France.

Objectives: Granulomatous myositis (GM) is a rare entity whose precise clinical features and therapeutic outcomes have not yet been well defined. Given the limited evidence, data from a large cohort of patients is needed to aid in the recognition and management of this condition.

Methods: We retrospectively analyzed our institutional databases to identify patients who had myositis and non-caseating granuloma on muscle biopsy (GM).

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Cerebral vasculitis is a rare but severe manifestation of neurosarcoidosis (NS) that has received little attention. The aim of the present study was to characterize clinical and diagnostic features as well as potential treatment strategies of cerebral vasculitis related to NS. We assessed 29 patients with cerebral vasculitis related to NS (15 female, mean age at time of diagnosis 45 years, SD = 11.

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