Banyan–Riley–Ruvalcaba syndrome (BRRS)
It is a rare overgrowth syndrome and hamartomata's disorder with occurrence of multiple subcutaneous lipomas,
macrocephaly and hemangiomas. The disease is inherited in an autosomal dominant
manner.
Banyan–Riley–Ruvalcaba syndrome is associated with enlarged head and benign mesodermal hamartomas (multiple hemangiomas, and intestinal polyps).
Dysmorphia as well as delayed neuro psychomotor development can also be present. The head enlargement does not cause widening of the ventricles or raised intracranial pressure; these individuals have a higher risk of developing tumors, as the gene involved in BRRs is phosphatase and tensin homologue.
Some individuals have thyroid issues consistent with multinodular goiter, thyroid adenoma, differentiated non-medullary thyroid cancer, most lesions are slowly growing. Visceral as well as intracranial involvement may occur in some cases, and can cause bleeding and symptomatic mechanical compression.
- The genetics of the Banyan–Riley–Ruvalcaba syndrome is determined, in the majority of cases, via the PTEN gene which presents about 30 mutations in this condition.
- This gene which regulates cell growth, when not working properly can lead to hamartomas.
- PTEN chromosomal location is 10q23.31, while the molecular location is 87,863,438 to 87,971,930 There are many syndromes that are linked to PTEN aside from Banyan–Riley–Ruvalcaba Syndrome.
The syndrome combines Banyan–Zonana syndrome, Riley–Smith
syndrome, and Ruvalcaba–Myhre–Smith syndrome. Banyan–Zonana syndrome is
named for George A. Banyan and Jonathan Zonana.
In terms of diagnosing
Banyan–Riley–Ruvalcaba syndrome there is no current method outside the
physical characteristics that may be present as signs/symptoms. There
are, however, multiple molecular
genetics tests (and cytogenetic test) to determine Banyan–Riley–Ruvalcaba
syndrome.
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