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Bannayan-Riley-Ruvalcaba syndrome
ICD-10 Codes
Related ICD-10:
Description
Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare genetic condition characterized by several distinct features.
Common characteristics:
- Large head size (macrocephaly)
- Multiple non-cancerous tumors and tumor-like growths
- Low muscle tone (hypotonia)
- Motor delay, speech delay, and/or mild developmental delays
Other symptoms may include:
- High birth weight
- Tumors in various parts of the body
- Hamartomatous intestinal polyposis (a type of polyp in the intestines)
- Lipomas (benign fatty tumors)
BRRS is a rare overgrowth syndrome and hamartomatous disorder, caused by a pathogenic variant in the phosphatase and tensin homolog (
Additional Characteristics
- Low muscle tone (hypotonia)
- Large head size (macrocephaly)
- Multiple non-cancerous tumors and tumor-like growths
- or mild developmental delays
- High birth weight
- Tumors in various parts of the body
- Hamartomatous intestinal polyposis (a type of polyp in the intestines)
- Lipomas (benign fatty tumors)
Signs and Symptoms
Bannayan-Riley-Ruvalcaba (BRRS) syndrome is a rare genetic disorder characterized by several distinct signs and symptoms.
Common Signs and Symptoms:
- Macrocephaly: A large head size, which is one of the most distinctive features of BRRS.
- Multiple noncancerous tumors and tumor-like growths: These can occur in various parts of the body, including the skin, intestines, and other organs.
- Pigmented spots (maculae) on the penis: A characteristic feature of BRRS, these spots are usually small and benign.
- Multiple hemangiomas: These are benign vascular tumors that can appear anywhere on the body.
- Lipomas: Benign fatty growths that can occur under the skin.
Other Possible Signs and Symptoms:
- Weak muscle tone (hypotonia)
- Hamartomatous intestinal polyposis (a condition characterized by multiple polyps in the intestines)
These signs and symptoms are often present at birth or appear early in life. However, it's worth noting that not everyone with BRRS will exhibit all of these characteristics.
References:
[1] Mar 3, 2021 — Bannayan-Riley-Ruvalcaba syndrome is a genetic condition characterized by a large head size (macrocephaly), multiple noncancerous tumors and tumor-like growths ...
[2] BRRS is a rare genetic disorder that is present at birth and is characterized by a large head size (macrocephaly), pigmented spots (maculae) on the penis and ...
[3] A rare developmental defect during embryogenesis characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis.
[4] Signs and symptoms Bannayan–Riley–Ruvalcaba syndrome is associated with enlarged head and benign mesodermal hamartomas (multiple hemangiomas, and intestinal ...
[5] by R Bhargava · 2014 · Cited by 32 — Bannayan-Riley-Ruvalcaba syndrome is a congenital disorder characterized by macrocephaly, intestinal polyposis, lipomas, and pigmented macules of the penis.
Additional Symptoms
- Macrocephaly
- Weak muscle tone (hypotonia)
- Multiple noncancerous tumors and tumor-like growths
- Pigmented spots (maculae) on the penis
- Multiple hemangiomas
- Lipomas
- Hamartomatous intestinal polyposis
Diagnostic Tests
Diagnostic Tests for Bannayan-Riley-Ruvalcaba Syndrome
Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a genetic condition that can be diagnosed through various tests. Here are some of the diagnostic tests used to identify this condition:
- Genetic Testing: Genetic testing is the primary method for diagnosing BRRS. A germline PTEN mutation is identified through blood or DNA testing, which confirms the presence of the condition [1][3].
- Clinical Exam and Symptoms: The diagnosis of BRRS is also based on clinical examination and symptoms such as macrocephaly (large head size), hamartomas (noncancerous tumors), and dark freckles on the penis in males [2].
- Screening Thyroid Ultrasound: A screening thyroid ultrasound exam is recommended starting at the age of 7, once a germline PTEN mutation is identified [4].
- Blood Tests: Blood tests may be conducted to rule out other conditions and to monitor the patient's health. The blood test typically involves collecting two 4ml EDTA tubes or extracted DNA [7].
Important Considerations
It is essential to note that BRRS is inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is sufficient for the condition to manifest [3]. Therefore, genetic testing can identify carriers of the mutation.
References
[1] Context 4: Once a germline PTEN mutation is identified, the patient should undergo a screening thyroid ultrasound exam, starting at the age of 7...
[2] Context 2: Bannayan-Riley-Ruvalcaba syndrome is a genetic condition characterized by a large head size (macrocephaly), multiple noncancerous tumors and tumor-like growths called hamartomas, and dark freckles on the penis in males.
[3] Context 3: BRRS is inherited in an autosomal dominant pattern. Diagnosis is based on clinical exam, the symptoms, and genetic testing.
[4] Context 4: Once a germline PTEN mutation is identified, the patient should undergo a screening thyroid ultrasound exam, starting at the age of 7...
[7] Context 7: Blood (two 4ml EDTA tubes, lavender
Additional Diagnostic Tests
- Blood Tests
- Genetic Testing
- Clinical Exam and Symptoms
- Screening Thyroid Ultrasound
Treatment
Treatment Options for Bannayan-Riley-Ruvalcaba Syndrome
Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare genetic disorder characterized by the growth of non-cancerous tumors and tumor-like growths, macrocephaly (large head size), and other symptoms. While there is no established standard treatment for BRRS, various therapies have been explored to manage its symptoms.
- Mammalian Target of Rapamycin (mTOR) Inhibitors: Research suggests that mTOR inhibitors, such as sirolimus, may be a promising therapy for patients with BRRS. These inhibitors can help reduce the growth of tumors and other symptoms associated with the condition [2][6].
- Sirolimus Clinical Trials: A Phase 2 clinical trial is currently underway to investigate the efficacy of sirolimus in treating BRRS (ClinicalTrials.gov identifier: NCT03743421) [7]. This trial aims to assess the safety and effectiveness of sirolimus in reducing tumor growth and improving symptoms.
- Symptom Management: The management of specific signs and symptoms, such as macrocephaly, intestinal polyps, and lipomas, is the basis of treatment for BRRS. While there is no specific treatment for these symptoms, they can be managed through various medical interventions [4].
It's essential to note that each individual with BRRS may experience a unique set of symptoms, and treatment plans should be tailored accordingly. Consultation with a healthcare professional is crucial in determining the best course of action for managing this rare condition.
References:
[1] No relevant information found on standard treatments for BRRS. [2] Research suggests that mTOR inhibitors may be a promising therapy for patients with BRRS (Source: [6]). [3] Macrocephaly and other symptoms associated with BRRS can be managed through various medical interventions (Source: [4]). [4] Management of specific signs and symptoms is the basis of treatment for BRRS (Source: [5]). [5] A rare developmental defect characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly, and genital lentiginosis (Source: [5]). [6] mTOR inhibitors, such as sirolimus, may be a promising therapy for patients with BRRS (Source: [2][6]). [7] A Phase 2 clinical trial is currently underway to investigate the efficacy of si
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Differential Diagnosis
Bannayan-Riley-Ruvalcaba (BRR) syndrome, also known as Cowden syndrome variant, is a genetic condition characterized by multiple noncancerous tumors and tumor-like growths. When considering the differential diagnosis for BRRS, several other conditions come to mind.
- Cowden Syndrome: This is a rare genetic disorder that affects about 1 in 200,000 people. It's characterized by multiple hamartoma syndrome with a high risk for benign and malignant tumors of the thyroid, breast, kidney, and endometrium.
- Proteus Syndrome: A rare genetic disorder that causes an overgrowth of skin, bones, and organs. It's often associated with intellectual disability and can cause a range of symptoms, including macrocephaly (large head size).
- Gorlin Syndrome: Also known as nevoid basal cell carcinoma syndrome, this is a rare genetic disorder that affects about 1 in 50,000 people. It's characterized by multiple basal cell carcinomas, jaw cysts, and other skeletal abnormalities.
- Birt-Hogg-Dube Syndrome: A rare genetic disorder that causes an increased risk of developing certain types of tumors, including lung cancer.
These conditions share some similarities with BRRS, such as the presence of noncancerous tumors and tumor-like growths. However, each condition has its unique set of symptoms and characteristics.
The differential diagnosis for BRRS is essential to rule out these other conditions and provide an accurate diagnosis. A thorough medical history, physical examination, and genetic testing can help determine the correct diagnosis.
According to [7], mutations in the PTEN gene have been found in about 60 percent of individuals with BRRS. This suggests that genetic testing may be a useful tool in diagnosing this condition.
In addition, the presence of macrocephaly, genital lentiginosis, and intestinal polyposis can also be indicative of BRRS [9].
It's worth noting that differential diagnosis is an ongoing process that requires careful consideration of all possible conditions. A comprehensive evaluation by a qualified healthcare professional is essential to ensure accurate diagnosis and treatment.
References:
[1] Mar 3, 2021 — Bannayan-Riley-Ruvalcaba syndrome is a genetic condition characterized by a large head size (macrocephaly), multiple noncancerous tumors and tumor-like growths ...
[7] Apr 1, 2021 — BRRS is a genetic syndrome usually caused by a mutation in a gene known as PTEN. Mutations in this gene have been found in about 60 percent of ...
[9] Jan 11, 2022 — Patients often demonstrate the triad of macrocephaly, genital lentiginosis, and intestinal polyposis.
Additional Differential Diagnoses
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