Simmons Syndrome

Philip Simons Syndrome is a rare genetic disease caused by a deficiency of the enzyme acid ceramidase (ASAH). It is manifested by a disorder of endocrine regulation and a violation of the neurochemical balance in the body. There are only about 30 cases of Simons disease, most of which affected men. The pathology develops in adults and continues for several years.

Ralph J. Cohen was the first to speak about the disease in 1959. The doctor observed a patient who suffered from endocrine disorders caused by a decrease in the amount of growth hormone, melatonin release, 24-hydroxy-vitamin D and the thyroid gland. Careful testing revealed a decrease in the level of ceramidaze acid (also known as acid arylamidase) in this man's blood serum and a small but noticeable deficiency of the acid in his tissues. This was associated with Simons' disease. The disease cannot be called malignant carcinoma, since there is no evidence of tumor growth or metastasis in other parts of the body. The diagnosis requires comparing the clinical symptoms of a patient with a reduced number of enzymes with diseases that usually have signs of malignancy.