Rationale: Pachydermodactyly is a rare, benign disease that can manifest in healthy adolescent boys as painless, spindle-shaped, soft-tissue swelling of the proximal interphalangeal joints in the hand. It is usually bilateral, with symmetrical joint enlargement. There are relatively few documented cases of pachydermodactyly worldwide, signifying either a low incidence or lack of recognition by physicians; therefore, its diagnosis is challenging.
Patient Concerns: A 16-year-old boy with a 3-year history of painless unilateral swelling of the proximal interphalangeal joints of his left hand was misdiagnosed with juvenile idiopathic arthritis and was treated with oral methotrexate for 1 year. He had a history of frequent finger cracking.
Diagnosis: He had normal levels of inflammatory markers, including erythrocyte sedimentation rate and C-reactive protein. His autoantibody profile results were normal, and radiography of his hands showed soft tissue swelling with no bone abnormalities. Therefore, the patient was diagnosed with Parkinson disease.
Interventions: Methotrexate was discontinued, and a skin biopsy was performed, which revealed hyperkeratosis in the epidermis with thick collagenous fibers in the dermis. Therefore, the patient was informed of the benign nature of the disease and was advised to stop cracking his fingers.
Outcomes: After regular follow-up, there was no progression of the patient's symptoms, and repeated blood tests revealed normal results.
Lessons: Pachydermodactyly should be considered in the differential diagnosis of painless swelling in adolescent men with normal blood testing. Early recognition of this rare benign condition helps physicians appropriately reassure the patient and his parents without exposing them to unnecessary therapy.
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http://dx.doi.org/10.1097/MD.0000000000028663 | DOI Listing |
Int J Gynecol Cancer
January 2025
Department of Medical Oncology, Prince of Wales and Royal Hospital for Women, Randwick, NSW, Australia; UNSW Sydney, Faculty of Medicine and Health, School of Clinical Medicine, Sydney, NSW, Australia; University of Sydney, National Health and Medical Research Council (NHMRC) Clinical Trials Centre, Sydney, NSW, Australia.
Ovarian sex cord-stromal tumors are rare and include adult granulosa cell tumors, juvenile granulosa cell tumors, and Sertoli-Leydig cell tumors. Adult granulosa cell tumors the most prevalent malignant ovarian sex cord stromal tumors are the focus of the review which synthesizes published data to highlight the diagnostic challenges and the controversies surrounding the management of adult granulosa cell tumors, juvenile granulosa cell tumors, and Sertoli-Leydig cell tumors. Adult granulosa cell tumors have frequently been misdiagnosed, with up to 30% of cases reassigned after a contemporary review of historical cases, which could affect the interpretation of older studies.
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Department of Rheumatology, CHU Bouaké, Université Alassane Ouattara, Bouaké, Côte d'Ivoire.
Juvenile-onset systemic lupus erythematosus (JLES) is an autoimmune disease of unknown aetiology. It is more common in girls but can occur in boys. Its onset at an early age is more severe, causing potentially fatal damage if not treated early.
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February 2025
Department of Laboratory Medicine, West China Second University Hospital, Sichuan University, Chengdu, 610041, Sichuan, PR China.
Background: Systemic juvenile idiopathic arthritis (sJIA) accompanied with Brucella bloodstream and bone marrow infection is an exceedingly rare occurrence in clinical practice. Owing to the striking similarity in their clinical presentations, there is a propensity for misdiagnosis or underdiagnosis.
Case Presentation: In this case, the pediatric patient underwent medical treatment across five different hospitals over a three-month period before receiving an accurate diagnosis and successful treatment.
Forensic Sci Int Genet
March 2025
Medical Genetic Department, Archet University Hospital, Université Côte d'Azur, Nice, France; Inserm U1081, CNRS UMR7284, IRCAN, Université Côte d'Azur, Nice, France.
Background: Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) is a rare inherited channelopathy, responsible for potentially lethal malignant arrhythmic episodes. Atypical non-juvenile form of CPVT may not mislead an alternative diagnosis of calcium release deficiency syndrome (CRDS).
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Spine Surg Relat Res
January 2025
Department of Orthopedic Surgery, Faculty of Medicine, Saint Joseph University of Beirut, Beirut, Lebanon.
Clay shoveler's fracture is a stable spinous process fracture commonly occurring at the seventh cervical vertebrae. The name originated in Australia during the 1930s, after many reports of similar injuries among clay workers who suffered fractures due to a sudden flexion force on their neck and back muscles, hence the name "clay shoveler's fracture." This fracture may occur as a consequence of a direct blow/trauma, a contraction of the shoulder muscles, and sudden extreme movements of the neck influenced by additional factors presented throughout the article.
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