Last academic year, as a fourth year medical student undertaking the COMP2 module in the Gloucestershire Academy, I became involved with writing up a rare and interesting dermatological case. This report has recently been accepted for publication in Clinical and Experimental Dermatology (CED) and a poster version accepted to present at The British Association of Dermatologists’ (BAD) Annual Meeting. I have been asked to write about how I became involved with the project, the process of writing it up and what I learned.
The title of this reflection is actually misleading for two reasons. Firstly, I wasn’t present in clinic when the patient first presented. I only met her some six months after her initial referral. However this did not prove to be an object in writing up the case at all!
At a period during medical school when I had started to focus on my career and Curriculum Vitae, and with The Academic Foundation Programme application due to open in around 9 months, I asked my supervising Consultant at the time, Dr Thomas Millard (Consultant Dermatologist), whether he had any interesting cases to write up or any other research or audit projects I could help with. Fortunately Dr Millard had in mind our patient, who had recently been diagnosed with a newly discovered type of cutaneous protoporphyria.
This has the extremely catchy name of X-linked dominant protoporphyria (XLDPP). He mentioned how it had only ever previously been described in biochemistry journals and felt it had a good chance of being published in a dermatology journal as an illustrative case to Dermatologists, many of whom may not have heard of XLDPP before. In my CV boosting enthusiasm, I said I would be delighted to write up the case and after managing to commit the name of the disease to memory, I set about performing a literature search to work out what XLDPP and indeed other types of porphyrias actually were. It is worth stressing at this stage that the porphyrias are not things that need to be learnt about for COMP2, or even medical finals for that matter!
So I first heard about our patient and became involved in writing her up just by asking. In order to gain patient consent, I telephoned the patient, explained who I was, what I wanted to do and why it would be beneficial to publish her case to raise awareness. She was very happy to for us go ahead and was delighted her story may be of use to others. On her return to clinic, when I first met her in January 2012, she filled out written consent forms for journals we were going to potentially target for submission.
The patient’s story was a lifelong history of acute, “burning” photosensitivity that commenced a few minutes after sun exposure, but with no obvious rash. Symptoms were worse in the summer, sunscreen offered partial protection and windows offered none. Understandably,
having to largely remain inside and/or covered during the summer months, she was somewhat frustrated. She was that told it was likely she had erythropoetic protoporphyria (EPP), a much more widely described porphyria and was referred to the local specialist biochemistry service in Cardiff for a “porphyria screen” of blood, urine and faeces tests which would be interpreted by a Cardiff porphyria specialist, Professor Alex Anstey.
Interestingly, our patient had a couple of pointers in the history that suggested something else might be going on. There was a strong family history, with identical symptoms spanning 4 generations, however with an absence of father-to-son inheritance. Somewhat complicated genetics mean that EPP rarely spans more than a generation and there is no reason for it to display the X-linked inheritance pattern (although of course this did not prove X-linked inheritance).
Sure enough the biochemical tests and subsequent examination of the affected gene for known XLDPP mutations confirmed the diagnosis.
The next step was the formal literature search. At that stage of the academic year I hadn’t yet done the COMP1 Evidence Based Medicine course, but fortunately had some experience during my intercalated degree. The relative dearth of literature on XLDPP compared to other porphyrias certainly helped. I then set about writing the report, using the style requested by our initial target journal, The British Journal of Dermatology (BJD), and filled in gaps in the story from the patient’s notes and a few phone calls to her. The discussion was probably the most difficult part to write as I needed to summarise treatment options (essentially none were agreed on), but also probably the most worthwhile as I felt I was doing a timesaving job that was useful for Dermatologists.
In just a couple of weeks I had produced the manuscript. It seemed a little too easy and that certainly proved to be the case. I was very grateful for the feedback from my 3 co-authors (Dr Millard, Prof Anstey and Dr Whatley) who helpfully pointed out that scientific proof that the other family members are affected by XLDPP would make the report more robust. So back to the drawing board and the inevitable delays of gaining the consent of the 2 surviving symptomatic family members to test them, request the tests from Cardiff and then interpret them before updating the manuscript.
After several more changes, we eventually submitted, nearly a full year after I first met our patient, but it got rejected by The BJD in just a few days, without formal peer-review. It was admittedly disappointing to put in so much extracurricular work only for it to be rejected so rapidly, but I was encouraged by the team and we had our next target: CED.
Professor Anstey stated how journals like these were very rarely accepting case reports these days. I certainly don’t regret applying, as another editor may well have liked the report and sent it for review. The CED had however stopped accepting case reports altogether and therefore I re-wrote the report as a concise communication of 800 words or so, covering slightly more extensively the affected family members and gaining their consent in the process. We felt there was a better chance of publishing a ‘case series’, particularly in a lower impact journal. Sure enough, come version 12 of the manuscript, one revision from The CED and 2 months of pondering on their part, the report was accepted for publication in March 2013. This explains the second lie in the title, as the report was actually a ‘concise communication’ in the end. I had also sent an abstract to BAD about the case, ensuring I didn’t self-plagiarise, during the lengthy revisions of 2012 and was lucky enough to get it accepted in March of this year.
I found this whole process extremely useful and I’m very grateful to the co-authors for all their advice. I wanted to include some specific points:
If it’s research, reports or audits that you are after then ASK. It’s infinitely easier to help out with projects and ideas that have already been conceived.
Get the opinions of the experts about which journals to target. I would never have known that The BJD rarely accepts case reports.
Try and get two things for your CV from each project by applying to conferences as well, but be careful not to self-plagiarise.
Don’t be disheartened. There are so many conferences and journals out there, that as long as you get something to show for your hard work then it has been worth it.
Of course this is a slightly cynical view of why medical students and trainee doctors should seek publications, but unfortunately it is a box that needs ticking to stand out in the more competitive specialist training posts. By asking academics and people interested in research I found that not only was I able to gain my aim of a publication, but also produce some meaningful work that should hopefully prove useful to clinicians and patients.