Wolfram syndrome is a rare monogenic cause of juvenile onset diabetes mellitus. It is a non-autoimmune, insulin-deficient state with concurrent or consequent optic atrophy. Here we depict the case of ...

Myofibroblastoma is a rare mesenchymal tumour known for its benign nature but complex diagnostic pathway. A woman in her 40s presented with a painless breast mass, initially reported as a fibroadenoma ...

A healthy, middle-aged woman presented to the ophthalmology outpatient department with a 12-month history of a palpable, non-tender mass on her right lower eyelid. The patient reported a 3-month ...

The case involves a man in his 30s, otherwise healthy, who developed necrotising fasciitis (NF) after a minor injury. He presented with severe symptoms including intense pain, swelling and fever, ...

Acquired haemophilia A (AHA) is caused by autoantibodies that neutralise Factor VIII (FVIII) and can cause severe bleeding. The COVID-19 vaccine may trigger the development of acquired autoantibodies ...

A subset of idiopathic pulmonary fibrosis cases has a familial component. Telomeric mutations, such as those in the Regulator of Telomere Elongation Helicase 1 (RTEL1) gene, have been associated with ...

The VACTERL association is characterised by a variable combination of vertebral defects, anorectal malformation, cardiac defects, tracheo-oesophageal fistula, renal anomalies and limb abnormalities.

A 49-year-old Caucasian woman presented with subacute headache and right eye pain associated with scotoma, blurred vision and photophobia. MRI was suggestive of optic neuritis of the right optic nerve ...

A 61-year-old man presented to the ENT emergency clinic with a history of unilateral facial nerve palsy occurring shortly after each dose of the Pfizer-BioNTech COVID-19 vaccine. The first episode ...

Guillain-Barré syndrome (GBS) is a rare immune-mediated disorder of the peripheral nerves. Although its cause is not fully understood, the syndrome often follows infection with a virus or bacteria, ...

A 40-year-old man presented with painless swelling of the neck for 3 years. He was well until 3 months prior to the presentation when he started losing weight and feeling lethargic. Clinical ...

A man in his 70s with a history of unresectable hepatocellular carcinoma (HCC) treated with nivolumab presented with a blistering rash 14 months after nivolumab initiation. Biopsies and direct ...