recurring spontaneous pneumothorax as main symptoms

Retain – Recurring spontaneous pneumothorax main symptoms

• When a 36 -year -old woman, moreover in perfect health, comes with a recurring spontaneous pneumothorax without apparent cause, it is difficult to give an informed opinion.
• Farman H. Nevertheless, Fatah And his colleagues at the University Hospital of Sulaymaniyah in Iraq bring back the case of a young woman suffering from chest pain. For example, breathlessness, who drew their attention because of her medical history without particularity.

The patient and her history

A 36 -year -old woman presented herself in the emergency room with acute chest pain on the left side and shortness of breath.

She had suffered from asthma for many years. Therefore, had already presented a spontaneous pneumothorax on the right side 7 years earlier. In addition, She was not smoking.

Results

• At auscultation, the left half of the chest presented a decrease in respiratory noise.
• The chest recurring spontaneous pneumothorax main symptoms x -ray revealed an apical pneumothorax of the left lung.
• Family history reported colon cancer in the paternal family and other cases of asthma on the maternal side.

Treatment

Despite rapid catheterization, pneumothorax persisted.

The healthcare team attempted a crying by thoracoscopy video-assistant (VATS). Nevertheless, A broken sub-fold cyst has been removed from the upper part of the left lobe of the lung. Furthermore, The fabric was examined histopathologically and has not revealed any signs of malignancy.

A scanner was carried out to determine the cause of pneumothorax. This revealed the presence of other thin wall vesicles in the pulmonary parenchyma, indicating an underlying cystic pulmonary disease.

The patient’s anamnesis being until then without particularity, a genetic disease has been suspected for the first time.

A mutation of the folliculin gene (FCLN) on the chromosome 17 could be detected.

The diagnosis of Birt-Hogg-Dubé (BDHS) syndrome could be made. It is an autosomal dominant hereditary dermatosis which is recurring spontaneous pneumothorax main symptoms generally accompanied by a classic triad associating pulmonary cysts. fibrofolliculomas (benign skin tumors) and a significantly increased risk of renal neoplasms.

This disease is very rare, with 2 cases out of a million people.

In addition, the patient had only one of the characteristic symptoms, which complicated the diagnosis.

Finally, only the genetic test made it possible to establish the diagnosis.

As the young woman had no skin demonstration. kidney abnormality, she was able to leave the hospital after a whining, with the implementation of regular controls to monitor her pulmonary function and her renal values.

Discussion

Pulmonary symptoms are often the first manifestation of a comic book. Multiple bilateral bilateral pulmonary cysts. which generally appear to be irregular and thinly and are mainly found in the basal and sub-folds regions of the lungs, can break, causing a spontaneous pneumothorax. It is sometimes the only clinical sign.

One of the main challenges of comics diagnosis lies recurring spontaneous pneumothorax main symptoms in its variable presentation. even in people affected within the same family.

This phenotypic variability can cause late or missed diagnostics, especially when skin or renal symptoms are absent or subtle. About 41 % of pulmonary cysts can be associated with spontaneous pneumothorax, with a recurrence rate of 41 %.

The majority of patients (> 90 %) develop multiple fibrofolliculomes during the second. third decade of their lives, especially in the face and top of the trunk. In 25 to 50 % of cases, these dermatological manifestations constitute the first clinical sign.

Renal tumors are observed in almost 30 % of people affected, at an average age of 50 years.

It is now generally accepted that pulmonary cysts often appear before other manifestations. can be the only sign for years. This underlines the importance of taking into account the BHDS in the differential diagnosis of a spontaneous pneumothorax. in particular if it is recurrent recurring spontaneous pneumothorax main symptoms or associated with an atypical cystic pulmonary disease.

This case underlines the importance of taking into account the BHDS in patients with recurring spontaneous pneumothorax. in particular in case of bilateral pulmonary cysts and in the absence of other clear etiology.

Surgical intervention, such as a vats cry, may be necessary in the event of failure of conservative approaches. The genetic confirmation by a FLCN mutation test is crucial. not only for the final diagnosis, but also for the implementation of appropriate long -term monitoring in the event of potentially fatal kidney cancer.

This article has been translated fromUnivadis.de. The content was reviewed by the editorial staff before publication.