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Pemphigoid diseases are a group of well defined autoimmune disorders that are characterised by autoantibodies against structural proteins of the dermal–epidermal junction and, clinically, by tense blisters and erosions on skin or mucous membranes close to the skin surface. The most common of these diseases is bullous pemphigoid, which mainly affects older people and the reported incidence of which in Europe has more than doubled in the past decade. Prognosis and treatments vary substantially between the different disorders and, since clinical criteria are usually not sufficient, direct immunofluorescence microscopy of a perilesional biopsy specimen or serological tests are needed for exact diagnosis.
Noonan syndrome is a genetic multisystem disorder characterised by distinctive facial features, developmental delay, learning difficulties, short stature, congenital heart disease, renal anomalies, lymphatic malformations, and bleeding difficulties. Mutations that cause Noonan syndrome alter genes encoding proteins with roles in the RAS–MAPK pathway, leading to pathway dysregulation. Management guidelines have been developed. Several clinically relevant genotype–phenotype correlations aid risk assessment and patient management.
In general medicine, diagnosis is a crucial step in the choice of appropriate treatment, prediction of the future course of an illness, education of patients and families, and helping patients to realise that they are not alone. By contrast, in psychiatry, attitudes to diagnosis remain mixed and polarised, and the value of diagnosis is continuously questioned. With revisions to the international diagnostic systems for psychiatry on the horizon, this deep ambivalence—derived from Cartesian tensions between “mindless” and “brainless” perspectives—has surfaced once again, breathing new life into an enduring culture war.
In February, 2012, a 57-year-old white man presented to us with a 2-month history of orthopnoea. Recumbency caused cough and dyspnoea culminating in bright red haemoptysis. He had been sleeping in an upright position for the past month. He had a 20-pack-year history of smoking but had not smoked for 15 years. His medical history included obesity, type 2 diabetes mellitus, and cirrhosis due to non-alcoholic steatohepatitis. Over the past 7 years our patient had had several episodes of haematemesis requiring repeated endoscopic variceal ligation.