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Ectopic thyroid tissue in the airway: a case report.
BMC Pulm Med
January 2025
Department of Respiratory Medicine, The Second Hospital of Jilin University, No. 4026 Yatai street, Changchun, 130041, Jilin, China.
Background: Ectopic thyroid tissue (ETT) is a rare congenital anomaly caused by the abnormal embryonic migration of thyroid tissue, leading to its presence outside its usual pretracheal location. This condition can lead to diagnostic challenges, especially when located within the airway, as it mimics other respiratory disorders such as asthma.
Case Presentation: We report the case of a 69-year-old man with endotracheal ETT presenting with severe dyspnea, and the lesion was initially suspected to be malignant.
Simpson-Golabi-Behmel syndrome type 1 in a neonate with central hepatoblastoma.
BMJ Case Rep
January 2025
Division of Neonatology, Kasturba Medical College Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India.
We report a neonate evaluated for hepatomegaly during hospitalisation and was diagnosed to have hepatoblastoma, an uncommon childhood malignancy. The presence of dysmorphism, macrosomia and congenital heart defect led to the suspicion of congenital overgrowth conditions. The genetic evaluation revealed a pathogenic variant, conclusive of Simpson-Golabi-Behmel syndrome type 1 (SGBS1).
View Article and Find Full Text PDF[Placental pathology. Case No. 4. Congenital syphilis].
Ann Pathol
January 2025
UF de fœtopathologie, hôpital Robert-Debré, 49, boulevard Sérurier, 75019 Paris, France. Electronic address:
Combined Klippel-Feil syndrome, Sprengel deformity, and diffuse large B-cell lymphoma: A rare case report.
Radiol Case Rep
March 2025
Loyola University Medical Center and Loyola University Chicago, 2160 S First Ave, Maywood, IL 60153, USA.
Klippel-Feil syndrome (KFS) is a rare congenital disorder characterized by the fusion of cervical vertebrae, with a clinical presentation that can vary widely due to genetic and phenotypic diversity. While KFS can occur as an isolated anomaly, it is often associated with other congenital conditions, such as Sprengel deformity, which may present with or without an omovertebral bone, complicating diagnosis and management. This particular case also involves diffuse large B-cell lymphoma (DLBCL), the most common subtype of non-Hodgkin lymphoma.
View Article and Find Full Text PDFOut of Sight, Not Out of Mind: Vulval Fibroadenoma Revealed.
Cureus
December 2024
Department of Surgery, Vardhman Mahavir Medical College (VMMC) & Safdarjung Hospital, New Delhi, IND.
Ectopic breast tissue (EBT) represents a congenital anomaly caused by incomplete regression of mammary ridges at the time of embryonic development. Typically, EBT presents along the mammary line, although usually in the axillary region, it has been located occasionally in unusual sites such as the vulva. Though relatively rare, it is generally subject to a wide range of pathologies that afflict normal breast tissue, encompassing both benign and malignant transformations.
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