LAUSR

In this issue of the BJD, Verkouteren and ten coauthors from Maastricht provide up-to-date, evidence-based recommendations for the diagnosis and surveillance’ of patients with Gorlin syndrome. They base these recommendations on careful analysis of their scholarly review of a mind-numbing number of publications from the past decade, which presumably reflect their own experience at a national centre of expertise for Gorlin syndrome. They have performed a highly valuable service for the rest of us who are not at a tertiary centre and hence are unlikely to have responsibility for managing the care of any more than two or three such patients in a lifetime of practising dermatology. Would that we had such practical advice for the many other well described rare diseases with major skin manifestations. But what broader lessons can a close reading provide? To me the startling findings are in the extensive tables that afford information as to the evidence underlying their guidelines. And remember, these studies were not done in some long-past era of paleodermatology: they all were published during the past decade. By my count, of the 109 instances of advice taken from the literature, the authors find the quality of the evidence to vary from ‘very low’ (76%) to ‘low’ (21%), with only two instances where the quality of the evidence ascends to the lofty heights of ‘moderate’ (it is not really much of a consolation that I coauthored one of the two). Of note, these two studies were both industry-supported, albeit academically pursued, and both were studies of the effects of hedgehog-inhibiting drugs on basal cell carcinomas. Of course, this gloomy assessment of the quality of the data is not limited to these recommendations – it is a common finding in the meta-analyses that currently flood the literature. In an era of shrinking support for science, and pressure on drug companies to sell their products at lower prices without any attempt to reduce the cost of their development, how can we do better? Might there be lessons thrust on us by the Covid pandemic? To me, one such is that teledermatology, although not all that efficient or personally satisfying, does offer a way for patients with rare diseases to be ‘seen’ at centres of expertise, and the more experience such centres can accrue, the more likely it is that they will become better at what they do. I do not know of any law of nature preventing those with unusually broad experience from using telemedicine to help manage such patients from afar. And to go one step further – there would seem not to be anything blocking such centres from collaborating virtually, that is without polluting the skies with burned jet fuel. If multicentre studies of drug efficacy can be mounted with at least ‘moderate’ results, why can’t they be mounted for other questions that we answer currently mostly with half-remembered lessons learned during specialty training? Maybe two heads actually would be proven to be better than one.