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Autumn case studies

Autumn Case Reports

3 Nov 2023

To better understand Birt-Hogg-Dubé syndrome (BHD), we highlight some of the recent case reports of BHD. A case report is a detailed account of (normally) a single person’s diagnosis and treatment journey. In this blog, we present four cases. These cases are about BHD in a kidney transplant patient, how BHD can affect the mouth, using CO2 laser resurfacing to treat skin bumps and recurring pneumothorax after surgery.

BHD diagnosed after a kidney transplant

The first  case describes a 35-year-old man who required a kidney transplant, for which his mother was a potential donor. Tests on the patient revealed high levels of protein in the urine, along with high blood pressure. These results indicated his kidneys were not working properly and a kidney transplant was required.

During a physical assessment, the patient showed skin bumps on the face and neck. Prior to the transplant, the patient also underwent a whole-body CT scan. This revealed multiple pulmonary cysts and a mass on the left kidney, and he was later diagnosed with kidney cancer. The clinicians suspected that this was caused by kidney disease. Before being scheduled for the kidney transplant, the patient was treated with nephrectomy, which is a surgical procedure that removes part of a kidney.

Three years later, the patient’s father was diagnosed with BHD. This subsequently led to a BHD diagnosis for the patient. The patient had multiple pulmonary cysts, skin bumps and kidney tumours, and these are signs and symptoms that are often seen in people with BHD. These symptoms of BHD were present three years ago, but a diagnosis of BHD was never given. The patient had an ultrasound which revealed a mass on the right kidney, and this had grown in size after another two years. Due to new information from the BHD diagnosis, the clinicians now believed that this mass was related to BHD, as opposed to kidney disease. The patient had part of his right kidney surgically removed.

This is a case from Japan, and there is a lack of information on the exact prevalence of BHD there. Overall, this case shows how a diagnosis of BHD can change a clinician’s understanding of the causes of other issues. This is a unique case, as it is the first report on a patient with BHD who received a kidney transplant from a living donor. This case tells us that if a patient presents with skin bumps and pulmonary cysts, it is ideal to check the patient’s family history before transplantation and consider a diagnosis of BHD.

BHD and the mouth

This case is of a 38-year-old man who presented in clinic with pain in his upper, back teeth. He had a medical history of lung cysts and BHD. During an examination, multiple skin bumps were found on his face, neck, ears, and upper chest. After looking inside, the patient’s mouth, they found that his lower jaw was sticking out, abrasion on the back teeth and bumps on his tongue. X-rays of the mouth also showed a loss of bone around the upper, back teeth.

To treat this patient, the bumps inside the mouth were removed. The patient also required treatment for his poor gum health, along with long-term monitoring.

This case reveals how BHD may affect the mouth, as skin bumps may also be found on other structures such as the tongue. This highlights the importance of all healthcare professionals, including dental clinicians, knowing about BHD and its’ signs.

CO2 laser resurfacing for treating skin bumps

A 55-year-old man with BHD had several skin bumps, called fibrofolliculomas the face and ears, for which he required treatment. To treat the skin bumps, CO2 laser resurfacing was suggested. This is an advanced form of treatment which involves using a carbon dioxide laser to target certain areas of the skin, to precisely remove thin layers of the skin with minimal damage to surrounding structures.

During the first appointment, the skin bumps on the entire face and ears were targeted. At the patient’s one-month follow up, the patient showed a good response to the treatment, with no reported side effects. There was a notable improvement in the patient’s skin texture but, some skin bumps were still present.

Two months later, another laser session targeted these skin bumps and a follow-up appointment revealed significant improvement in the number and size of the skin bumps, and the overall texture of skin. The patient was satisfied with the results.

Skin bumps are commonly seen in people living with BHD, and it is a symptom that can make people feel self-conscious. This case suggests that CO2 laser resurfacing can be an effective form of treatment for skin bumps in people with BHD.

There is currently no permeant treatment for skin bumps. There are several techniques that can remove them temporarily. This case suggests that CO2 laser resurfacing can be an effective form of treatment for skin bumps in people with BHD. However, the long-term effectiveness needs to be explored.

Pneumothorax recurrence 30 years after surgery in patient with BHD 

Thirty years ago, a 63-year-old patient with BHD experienced two episodes of spontaneous lung collapse (also known as pneumothorax). This was treated and managed with surgery. The patient remained free of any lung issues and required no further treatment for BHD. Fast forward to the present day, the patient presented with a recurrent episode of lung collapse.

A chest x-ray revealed a lung collapse on the right side, and multiple cysts in the lungs. The patient was given non-surgical treatment and after eight days in hospital, the patient was discharged. Follow-up appointments in the next week and months showed no evidence of lung collapse recurrence and no related symptoms.

This case shows that lung collapses can happen even after surgery, highlighting the importance of being aware of the symptoms. If you have BHD, it is important to inform your doctor and to monitor any symptoms that you may have.