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Li-Fraumeni syndrome is an autosomal dominant cancer predisposition syndrome associated with TP53 mutation. Description Li-Fraumeni Syndrome (LFS) is an inherited genetic disorder associated with a…

Neurofibroma is a benign peripheral nerve sheath tumour, typically affecting young adults, associated with neurofibromatosis type 1, characterised by a mixture of Schwann cells, fibroblasts, and perineurial…

Description Schwannoma, known less commonly as neurilemmoma, is a benign peripheral nerve sheath tumour that originates from Schwann cells, which produce the myelin sheath covering peripheral nerves. These…

Dermatomyositis is an idiopathic inflammatory myopathy primarily affecting adults between 45-60 years of age, more prevalent in females, and characterised by proximal muscle weakness, distinctive skin rash,…

Gynaecomastia commonly occurs in adolescents and middle-aged to elderly males (40-60 years), primarily due to a hormonal imbalance favouring oestrogen, and demonstrates glandular tissue proliferation…

Ranulas are mucous extravasation cysts typically presenting in young adults, arising from the sublingual gland, characterised by the presence of clear, thick, mucoid fluid and typically appearing as a…

Thyroglossal duct cysts, typically seen in paediatric populations, are the most common congenital anomaly in the neck, originating from remnants of the thyroglossal duct, histologically presenting…

Gastroschisis is a congenital abdominal wall defect typically occurring to the right of the umbilicus, presenting with evisceration of the bowel and/or other abdominal organs, without a protective covering…

Omphalocele is a congenital midline abdominal wall defect, typically presenting at birth with herniation of abdominal organs into a sac covered by a translucent membrane outside the abdominal cavity.…

Alport syndrome is an X-linked recessive hereditary nephritis due to type IV collage defect in the GBM often accompanied by haematuria, sensorineural deafness and eye abnormalities, with the most common…