Ruvalcaba-Myhre-Smith syndrome

Classification according to ICD-10
Q89.8	Other specified congenital malformations
ICD-10 online (WHO version 2019)

The Ruvalcaba-Myhre-Smith syndrome is a very rare, to the overgrowth syndromes associated with genetic disease . Sick people have a mutation in the PTEN gene on the long arm of chromosome 10 and therefore belong to the PTEN hamartoma tumor syndrome . PTEN stands for "Phosphatase and Tensin Homolog". It is a tumor suppressor gene and the protein consists of 403 amino acids . The gene encodes a lipid phosphatase that regulates the function of other proteins by removing phosphate groups from their molecules. The growth of superfluous cells is suppressed by interrupting the cell cycle in the G1 phase. A mutation that causes the loss of the protein can result in overproliferation (supercell division), which leads to the growth of tissue changes or tissue excess.

Alternative name

The Ruvalcaba-Myhre-Smith syndrome was described by various doctors and researchers at the same time (1960 by Harris D. Riley and William R. Smith, 1971 by George A. Bannayan). Hence it is also referred to as:

• Bannayan-Zonana Syndrome
• Riley Smith Syndrome
• Ruvalcaba-Myhre syndrome
• Bannayan-Riley-Ruvalcaba Syndrome (BRRS)
• Bannayan's syndrome
• Cowden / Bannayan-Riley-Ruvalcaba overlapping syndrome
• Macrocephaly , pseudopapilledema and multiple hemangiomata

The syndrome should not be confused with Myhre syndrome or Ruvalcaba syndrome .

Classification

Ruvalcaba-Myhre-Smith syndrome belongs to the group of hereditary hamartoma polyposis syndromes. In all syndromes there is a change in the genetic makeup of the PTEN gene with partly overlapping symptoms. Therefore these syndromes are no longer strictly separated. Hereditary harmatoma polyposis syndromes also include

• Juvenile Polyposis Syndrome
• Peutz-Jeghers Syndrome
• Cowden Syndrome

Inheritance

Ruvalcaba-Myhre-Smith syndrome follows an autosomal dominant inheritance. Inheritance occurs through a non-sex chromosome, an autosome .

Since the autosomal dominant inheritance is not gender-specific, men and women are equally affected. In contrast to autosomal - recessive inheritance men and women are also sick when they heterozygous suffering.

This means that only one of the alleles of the diseased gene, that of the father or that of the mother, is defective. An affected parent therefore has an unfavorable genetic make-up that can be passed on to offspring with a 50% probability.

Diagnosis

The Ruvalcaba-Myhre-Smith syndrome can be detected by mutation analysis of the PTEN gene using direct DNA sequencing .

A blood DNA sample from the person to be examined is required as the starting material. If the family inheritance is to be determined, blood is also taken from the children or parents.

Symptoms

Characteristic features of the Ruvalcaba-Myhre-Smith syndrome are

• a birth weight of 4 kg and more (with a high probability)
• a birth size of 53 cm in girls (with high probability)
• a birth size of 55 cm in boys (with high probability)
• learning to walk late
• a general developmental disorder / delay
• an extraordinary head size / macrocephaly (in 50% of those affected)
• Hemangiomas , benign neoplasm of blood vessels (in 10 to 40 people)
• multiple lipomas , benign adipose tissue growth (in 75%)
• Pigment spots on the penis (with a high probability), possibly macropenis
• impaired motor skills (awkwardness) (in 50%)
• Muscle weakness (in 50%)
• Scoliosis (in 50%)

However, the expression of the characteristics is very different for those affected.

Risks

Men and women affected by Ruvalcaba-Myhre-Smith syndrome have an increased risk of developing thyroid cancer or colon cancer, and women also have breast cancer . Therefore, both men and women should have regular preventive examinations from around the age of 21.

swell

• Sarah Burton, Joy Larsen Haidle, and Heather Hampel: Bannayan-Riley-Ruvalcaba Syndrome: A Guide for parents and their families . University of Iowa Health Care and Ohio State University.

Web links

• Bannayan-Riley-Ruvalcaba Syndrome: A Guide for patients and their families.
• Cowden Disease (Multiple Hamartoma Syndrome)

Individual evidence

1. ↑ Alphabetical index for the ICD-10-WHO version 2019, volume 3. German Institute for Medical Documentation and Information (DIMDI), Cologne, 2019, p. 766

This article is about a health issue. It is not used for self-diagnosis and does not replace a diagnosis by a doctor. Please note the information on health issues !