Bannayan–Riley–Ruvalcaba syndrome: Difference between revisions
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{{SI}} | |||
{{Infobox medical condition | |||
| name = Bannayan–Riley–Ruvalcaba syndrome | |||
| image = [[File:Autosomal_dominant_-_en.svg|200px]] | |||
| caption = Bannayan–Riley–Ruvalcaba syndrome is inherited in an [[autosomal dominant]] pattern. | |||
| synonyms = Bannayan–Zonana syndrome, Riley–Smith syndrome, Ruvalcaba–Myhre–Smith syndrome | |||
| pronounce = | |||
| specialty = [[Medical genetics]] | |||
| symptoms = [[Macrocephaly]], [[lipomas]], [[hemangiomas]], [[pigmented macules]] on the [[glans penis]] | |||
| onset = [[Childhood]] | |||
| duration = [[Lifelong]] | |||
| causes = Mutations in the [[PTEN]] gene | |||
| risks = | |||
| diagnosis = [[Genetic testing]], [[clinical evaluation]] | |||
| differential = [[Cowden syndrome]], [[Proteus syndrome]], [[Neurofibromatosis type I]] | |||
| prevention = | |||
| treatment = [[Symptomatic treatment]], [[surgical removal]] of lipomas | |||
| medication = | |||
| prognosis = Generally good with management | |||
| frequency = Rare | |||
| deaths = | |||
}} | |||
[[File:Pten.jpg|Bannayan–Riley–Ruvalcaba syndrome|thumb|left]] | |||
[[File:Kidney Cross Section.png|Bannayan–Riley–Ruvalcaba syndrome|thumb|left]] | |||
'''Bannayan–Riley–Ruvalcaba syndrome''' (BRRS) is a rare overgrowth syndrome and hamartomatous disorder with a wide spectrum of phenotypic expression. It is characterized by macrocephaly, intestinal polyposis, lipomas, and pigmented macules of the glans penis. | '''Bannayan–Riley–Ruvalcaba syndrome''' (BRRS) is a rare overgrowth syndrome and hamartomatous disorder with a wide spectrum of phenotypic expression. It is characterized by macrocephaly, intestinal polyposis, lipomas, and pigmented macules of the glans penis. | ||
== Signs and Symptoms == | == Signs and Symptoms == | ||
BRRS is characterized by a variety of symptoms, including [[macrocephaly]], [[intestinal polyposis]], [[lipomas]], and pigmented macules of the [[glans penis]]. Other symptoms may include developmental delay, [[thyroid]] problems, and an increased risk of certain types of [[cancer]]. | BRRS is characterized by a variety of symptoms, including [[macrocephaly]], [[intestinal polyposis]], [[lipomas]], and pigmented macules of the [[glans penis]]. Other symptoms may include developmental delay, [[thyroid]] problems, and an increased risk of certain types of [[cancer]]. | ||
== Causes == | == Causes == | ||
BRRS is caused by mutations in the [[PTEN]] gene. This gene provides instructions for making a protein that is involved in cell signaling and regulation of cell growth. Mutations in the PTEN gene disrupt the protein's function, leading to uncontrolled cell growth and division. | BRRS is caused by mutations in the [[PTEN]] gene. This gene provides instructions for making a protein that is involved in cell signaling and regulation of cell growth. Mutations in the PTEN gene disrupt the protein's function, leading to uncontrolled cell growth and division. | ||
== Diagnosis == | == Diagnosis == | ||
Diagnosis of BRRS is based on clinical features and can be confirmed by genetic testing for mutations in the PTEN gene. | Diagnosis of BRRS is based on clinical features and can be confirmed by genetic testing for mutations in the PTEN gene. | ||
== Treatment == | == Treatment == | ||
Treatment for BRRS is symptomatic and supportive. It may include regular monitoring for the development of tumors and other complications. | Treatment for BRRS is symptomatic and supportive. It may include regular monitoring for the development of tumors and other complications. | ||
== Prognosis == | == Prognosis == | ||
The prognosis for individuals with BRRS varies. Some individuals may have mild symptoms and a normal lifespan, while others may have severe complications and a shortened lifespan. | The prognosis for individuals with BRRS varies. Some individuals may have mild symptoms and a normal lifespan, while others may have severe complications and a shortened lifespan. | ||
== See Also == | == See Also == | ||
* [[PTEN hamartoma tumor syndrome]] | * [[PTEN hamartoma tumor syndrome]] | ||
* [[Cowden syndrome]] | * [[Cowden syndrome]] | ||
* [[Proteus syndrome]] | * [[Proteus syndrome]] | ||
== References == | == References == | ||
<references /> | <references /> | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Syndromes]] | [[Category:Syndromes]] | ||
{{stub}} | {{stub}} | ||
Latest revision as of 18:15, 4 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| Bannayan–Riley–Ruvalcaba syndrome | |
|---|---|
| |
| Synonyms | Bannayan–Zonana syndrome, Riley–Smith syndrome, Ruvalcaba–Myhre–Smith syndrome |
| Pronounce | |
| Specialty | Medical genetics |
| Symptoms | Macrocephaly, lipomas, hemangiomas, pigmented macules on the glans penis |
| Complications | N/A |
| Onset | Childhood |
| Duration | Lifelong |
| Types | N/A |
| Causes | Mutations in the PTEN gene |
| Risks | |
| Diagnosis | Genetic testing, clinical evaluation |
| Differential diagnosis | Cowden syndrome, Proteus syndrome, Neurofibromatosis type I |
| Prevention | |
| Treatment | Symptomatic treatment, surgical removal of lipomas |
| Medication | |
| Prognosis | Generally good with management |
| Frequency | Rare |
| Deaths | |
Bannayan–Riley–Ruvalcaba syndrome (BRRS) is a rare overgrowth syndrome and hamartomatous disorder with a wide spectrum of phenotypic expression. It is characterized by macrocephaly, intestinal polyposis, lipomas, and pigmented macules of the glans penis.
Signs and Symptoms[edit]
BRRS is characterized by a variety of symptoms, including macrocephaly, intestinal polyposis, lipomas, and pigmented macules of the glans penis. Other symptoms may include developmental delay, thyroid problems, and an increased risk of certain types of cancer.
Causes[edit]
BRRS is caused by mutations in the PTEN gene. This gene provides instructions for making a protein that is involved in cell signaling and regulation of cell growth. Mutations in the PTEN gene disrupt the protein's function, leading to uncontrolled cell growth and division.
Diagnosis[edit]
Diagnosis of BRRS is based on clinical features and can be confirmed by genetic testing for mutations in the PTEN gene.
Treatment[edit]
Treatment for BRRS is symptomatic and supportive. It may include regular monitoring for the development of tumors and other complications.
Prognosis[edit]
The prognosis for individuals with BRRS varies. Some individuals may have mild symptoms and a normal lifespan, while others may have severe complications and a shortened lifespan.
See Also[edit]
References[edit]
<references />
