Hereditary angioedema (HAE) is a genetic disorder that causes sudden episodes of swelling, often accompanied by abdominal pain. Affecting roughly 1 in 50 000 people, HAE typically appears in childhood ...

A woman in her 40s with a history of a subarachnoid haemorrhage complicated by ischaemic infarcts presented with 1 week of ...

Neurofibromatosis Type 1 (NF1) is a genetic disorder characterised by benign tumours and cutaneous lesions, including neurofibromas. This case report describes a boy in his early 10s with NF1 who ...

Figure 3 (A) H&E, 10×—mild to moderate spongiosis with dense perivascular and periadnexal infiltrate in the superficial and deep dermis. (B) H&E, 40×—the infiltrates consist mainly of neutrophils with ...

We report a case of a woman in her 50s with chronic teprotumumab-associated sensorineural hearing loss. The patient presented with chronic thyroid eye disease with proptosis and diplopia despite ...

Anthropometry at birth: Birth weight: 2525 g (fifth centile) Length: 45 cm (<3rd centile). The upper segment was 29 cm, lower segment was 16 cm (disproportionate short stature with increased ...

Congenital erythropoietic porphyria (CEP) also known as Gunther’s disease is a subtype of porphyria. It is an autosomal recessive disorder caused by a mutation in the uroporphyrinogen III gene (URO ...

A 35-year-old woman, a farmer by occupation, resident of Uttranchal (a sub-Himalayan area) in India, presented in the emergency department with complaints of fever for 1 week and breathlessness for 2 ...

Macrocheilia, or lip enlargement, has a varied aetiology, but granulomatous conditions, both infective and non-infective, comprise a significant proportion of patients. Diagnosis starts with clinical ...

Perianal Paget’s disease (PPD) is a rare condition which is often associated with underlying malignancy. To definitively rule ...

Biodegradable temporising matrix (BTM NovoSorb; PolyNovo, Melbourne, Australia) is a novel synthetic polyurethane dermal substitute. Licensed in Europe in 2020, it was developed primarily for ...

Review articles1 and dermatology textbook presentations of scabies2 often contain no images of its dermoscopic features and, in fact, may omit mention of dermoscopy as an aid in diagnosis. Scabies ...