Bannayan-Zonana syndrome
Encyclopedia
Bannayan–Riley–Ruvalcaba syndrome (BRRS) is a rare hamartomatous disorder with occurrence of multiple subcutaneous lipoma
s, macrocephaly
and hemangioma
s. The disease is inherited in an autosomal dominant form, but sporadic cases have been reported.
The disease belongs to a family of hamartomatous polyposis syndromes, which also includes Peutz-Jeghers syndrome
, juvenile polyposis and Cowden syndrome
. Mutation of the PTEN
gene underlies this syndrome, as well as Cowden syndrome
, Proteus syndrome
, and Proteus-like syndrome
. Collectively, these four syndromes are referred to as PTEN Hamartoma-Tumor Syndromes (PHTS).
Visceral as well as intracranial involvement may occur in rare cases, and can cause bleeding and symptomatic mechanical compression, especially of the spinal cord or spinal nerve roots.
This may require surgical resection.
The macroencephaly is symmetrical, and does not cause widening of the ventricles or raised ICP
(intracerebral pressure).
.
Lipoma
A lipoma is a benign tumor composed of adipose tissue. It is the most common form of soft tissue tumor. Lipomas are soft to the touch, usually movable, and are generally painless. Many lipomas are small but can enlarge to sizes greater than six centimeters. Lipomas are commonly found in adults...
s, macrocephaly
Macrocephaly
Macrocephaly , occurs when the head is abnormally large; this includes the scalp, the cranial bone, and the contents of the cranium.-Causes:...
and hemangioma
Hemangioma
A hemangioma of infancy is a benign self-involuting tumor of endothelial cells, the cells that line blood vessels. It usually appears during the first weeks of life and sometimes resolves by age 10. In more severe case hemangioma may have permanency, if not treated by a physician...
s. The disease is inherited in an autosomal dominant form, but sporadic cases have been reported.
The disease belongs to a family of hamartomatous polyposis syndromes, which also includes Peutz-Jeghers syndrome
Peutz-Jeghers syndrome
Peutz–Jeghers syndrome, also known as hereditary intestinal polyposis syndrome, is an autosomal dominant genetic disease characterized by the development of benign hamartomatous polyps in the gastrointestinal tract and hyperpigmented macules on the lips and oral mucosa...
, juvenile polyposis and Cowden syndrome
Cowden syndrome
Cowden syndrome is a rare autosomal dominant inherited disorder characterized by multiple tumor-like growths called hamartomas and an increased risk of certain forms of cancer....
. Mutation of the PTEN
PTEN
PTEN may mean:* Patterson-UTI Energy, Inc., which trades on the NASDAQ stock market under the symbol 'PTEN'* Prime Time Entertainment Network* PTEN , a human tumour suppressor gene on chromosome 10...
gene underlies this syndrome, as well as Cowden syndrome
Cowden syndrome
Cowden syndrome is a rare autosomal dominant inherited disorder characterized by multiple tumor-like growths called hamartomas and an increased risk of certain forms of cancer....
, Proteus syndrome
Proteus syndrome
Proteus syndrome, also known as Wiedemann's syndrome , is a congenital disorder that causes skin overgrowth and atypical bone development, often accompanied by tumors over half the body....
, and Proteus-like syndrome
Proteus-like syndrome
Proteus-like syndrome is a condition similar to Proteus syndrome, but with an uncertain etiology.-External links:*...
. Collectively, these four syndromes are referred to as PTEN Hamartoma-Tumor Syndromes (PHTS).
Presentation
Most lesions are slowly growing and easily resectable.Visceral as well as intracranial involvement may occur in rare cases, and can cause bleeding and symptomatic mechanical compression, especially of the spinal cord or spinal nerve roots.
This may require surgical resection.
The macroencephaly is symmetrical, and does not cause widening of the ventricles or raised ICP
ICP
-Business:* International Comfort Products Corporation, a company that manufactures and markets central air conditioning systems, gas and oil furnaces* Indonesian Crude Price...
(intracerebral pressure).
Etymology
The syndrome combines Bannayan-Zonana syndrome, Riley-Smith syndrome, and Ruvalcaba-Myrhe-Smith syndrome. Bannayan-Zonana syndrome is named for George A. Bannayan and Jonathan Zonana. Riley-Smith syndrome was named for Harris D. Riley, Jr. and William R. Smith. Ruvalcaba-Myrhe-Smith syndrome is named for S. Myhre, Rogelio H. A. Ruvalcaba and David Weyhe SmithDavid Weyhe Smith
David Weyhe Smith was an American pediatrician and dysmorphologist.Smith was born in Oakland, California. He gained his medical degree from Johns Hopkins University School of Medicine and worked with Lawson Wilkins in the field of pediatric endocrinology...
.