Like most occupations, the day to day work becomes fairly routine. The same applies to medicine and, in my case, pulmonary disease. Most of the patients we see on a regular basis have similar problems with the variations coming from their other impairments or socioeconomic issues. The diagnosis for some patients may be challenging, but years of experience can help settle many issues.
However, despite seeing thousands of patients annually for over 40 years, there are still some rare problems that come only once in a lifetime. Many rare diseases have very characteristic findings, but you need to remember them when you see them. So it was this week when a patient was referred with what was described as emphysema. His family doctor was concerned about some findings on the CT scan of his patient’s chest, which showed multiple cysts throughout both lungs, but the pulmonary function studies on the patient were normal.
Fast forward to my exam of the patient, which revealed little bumps on his neck called fibrofolliculomas. His brother also has similar findings as well as a kidney tumor. This patient had a genetic disease called Birt-Hogg-Dube Syndrome. Only about 100 cases have ever been described. There is no treatment needed, but the patient must be followed closely for the presence of kidney cancer. I advised the patient to have his two sons screened for this disease, which can be done by exam or blood test.
I just had to share this unusual case with you