Diagnosing Skin Bumps

Although everyone experiences Birt-Hogg-Dubé syndrome (BHD) differently, a common feature that people share is that healthcare professionals often have not heard of the condition. An article by Dazé et al not only described a case of BHD but designed a quiz, based on the case, as an education tool for healthcare professionals.

The article describes a 54-year-old man with a 10-year history of white- and skin-coloured papules across his face and neck. Biopsies from the papules revealed them to be trichodiscomas, which are benign skin lesions similar to fibrofolliculomas – the difference being these are skin coloured rather than white. This finding led to imaging of his abdomen and pelvis, which showed lung cysts and bilateral kidney cysts.  Genetic testing confirmed he had a mutation in his folliculin gene, and hence a diagnosis of BHD was obtained.

The quiz takes this scenario and asks three questions. Firstly, it asks for a diagnosis based on this case.  Secondly it asks about the cancer associated with the syndrome and finally it asks about the histology of fibrofolliculomas. Although short this article allows healthcare professionals to work through a case of BHD and pinpoint exactly the features of BHD to aid future diagnosis.  

Read the freely available article (Includes photos) and take the quiz!

References

Dazé R, Fronek L, Moon S, Farsi M, Miller R. Masquerading case of a lumpy bumpy face. JAAD Case Rep. Oct 2020 16;6(12):1261-1263. doi: 10.1016/j.jdcr.2020.10.014.

4 thoughts on “Diagnosing Skin Bumps

  1. Question 2: What malignancy is most commonly associated with this syndrome?
    Their first answer, renal, is correct. But then they state, INCORRECTLY, “Neoplasms of the salivary glands are not associated with BHDS.”

    Parotid oncocytomas are extremely rare in the general population, but not among people with BHD. In my own extended family, this is how three BHD patients have presented. I’ve counted if I remember right, over 25 people in the facebook BHD group who have been diagnosed and treated for parotid oncocytomas. A couple of published papers have mentioned the apparent association. Apparently more papers need to be published on it.

    How can we spread the word?

  2. I would agree with Richards comments re BHD number 2 question in the quiz.. Renal tumors are definitely associated with BHD , but given my own BHD family history it was parotid oncocytomas that first presented itself in my father before he was 40 yrs old ( not that we knew about BHD at the time) . His BHD diagnosis came 30 plus years later. When he was in his late 70’s His Renal tumours came later. I do believe parotid oncoytomos associated with BHD warrants further research. Thanks for this site.

  3. Thank you Richard, that is a very interesting point and something we will be looking it to.

  4. Hi Kerrie, thank you so much for message and sharing your experience. This is something we have noted and will be looking in to.

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