Although fibrothorax may not cause any symptoms, people affected by the disorder may report shortness of breath. Persistent, recurrent pleural effusions are a possible symptom, caused by the persistent cavity formed by the hardening pleura around the original fluid collection. Shortness of breath tends to develop gradually and may worsen over time. Less commonly, fibrothorax may cause chest discomfort or a dry cough. Fibrothorax may occur as a complication of other diseases. Symptoms of the underlying problem are sometimes seen, for example, fever in cases of empyema. Causes
Fibrothorax is often a complication of other diseases that cause inflammation of the pleura. These include infections such as an empyema or tuberculosis, or bleeding within the pleural space known as a haemothorax. Exposure to certain substances, such as asbestos, can cause generalised fibrosis of the lungs, which may involve the pleura and lead to fibrothorax. Less common causes of fibrothorax include collagen vascular diseases such as systemic lupus erythematosus, sarcoidosis, and rheumatoid arthritis; kidney failure leading to uraemia; and side effects of certain medications. The medications most commonly associated with pleural fibrosis are the ergot alkaloids bromocriptine, pergolide, and methysergide. Fibrothorax may also occur without a clear underlying cause, in which case it is known as idiopathic fibrothorax. A technique called pleurodesis can be used to intentionally create scar tissue within the pleural space, usually as a treatment for repeated episodes of a punctured lung, known as a pneumothorax, or for pleural effusions caused by cancer.
Changes in the patients facial configuration and body could be attributed to age and familial history (i.e., the patient shows signs of arthritis and hypertension). Still present were the low hairline, broad tip of the nose, short nasal labial distance, depressed columella, thin lips, and posteriorly positioned ears, as well as short stature and mild to moderate retardation. Recent research
In a study published in 2012 in the Journal of Pediatric Endocrinology, a group of scientists reported the long-term effects of a patient diagnosed with FHS undergoing growth hormone therapy from the age of 3.5 years to 9 years old. While the GH seemed to work initially, the patients growth after the first couple years slowed significantly and the patient reached a stable height far below the target or standard height. The results on GH therapy remain inconclusive.Recent research mostly centers around the search and confirmation of the gene responsible for FHS. As discussed in the mechanisms section, though the mutation of SRCAP is a widely accepted indicator of a patient diagnosed with FHS, it is not the cause in every case. References
External links
OMIM entry on Floating–Harbor syndrome and SRCAP
GeneReview/UW/NCBI/NIH entry on Floating–Harbor syndrome