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Prenatal diagnosis of mucopolysaccharidosis type I on hepatosplenomegaly and coarse features: a case-report.
BMC Pregnancy Childbirth
January 2025
Department of Clinical Genetics, Rennes University Hospital, Rennes, France.
Background: Mucopolysaccharidosis type I (MPS I - IDUA gene) is a rare autosomal recessive lysosomal storage disorder. Clinical symptoms, including visceral overload, are progressive and typically begin postnatally. Descriptions of hepatosplenomegaly associated with lysosomal pathology are uncommon during the prenatal period.
View Article and Find Full Text PDFSucking blister in a newborn: atypical localisation.
BMJ Case Rep
January 2025
Paediatrics, Unidade Local de Saúde São João, Porto, Portugal.
A meticulous examination of the oral cavity is an essential part of the initial newborn assessment. The differential diagnosis can involve benign and self-limiting lesions to those lesions compromising quality of life. We present a clinical case of a newborn born with a purple, hard tumour on the hard palate that spontaneously regressed, being thus compatible with the case of a sucking blister.
View Article and Find Full Text PDFFibrolamellar hepatocellular carcinoma with intrapancreatic nodal metastases masquerading as pancreatic neuroendocrine tumour with hepatic metastases.
BMJ Case Rep
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General Surgery, Post Graduate Institute of Medical Education and Research, Chandigarh, India
Fibrolamellar hepatocellular carcinoma (FL-HCC) is a primary liver tumour presenting at a young age. Aggressive surgery of FL-HCC is the mainstay of management unlike other malignancies where metastatic stage precludes curative surgery. There are limited reports of response of FL-HCC to systemic therapies predominantly owing to its rarity.
View Article and Find Full Text PDFHistopathological Diagnostic Discordance between Punch Biopsies and Final Diagnostic Excisions of Cutaneous Squamous Cell Carcinoma: Analysis of 737 Cases.
Acta Derm Venereol
January 2025
Division of Dermatology and Venereology, Department of Clinical Sciences, Lund University, Skåne University Hospital, Lund, Sweden.
The recommended treatment for cutaneous squamous cell carcinoma is surgical excision. An initial punch biopsy is often performed as an aid to diagnosis. A retrospective registry-based study was performed to assess histopathological concordance of punch biopsy of cutaneous squamous cell carcinoma and subsequent excision.
View Article and Find Full Text PDFObjectives: This case report highlights the clinical presentation, diagnostic challenges, and effective management of bladder endometriosis, while emphasizing the importance of considering this diagnosis in patients with chronic pelvic pain and urinary symptoms.
Methods: A 32-year-old woman presented with severe pelvic pain, dysuria, and dyspareunia. Diagnosis of bladder endometriosis was achieved through clinical suspicion supported by vaginal ultrasound, 3D imaging, and magnetic resonance imaging.
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