Myhre–Riley–Smith Syndrome

Myhre–Riley–Smith syndrome is a genetic condition that starts early in life and affects how body tissues grow and organize. Children are often large at birth or gain weight quickly, have a large head (macrocephaly), and may develop many benign growths called hamartomas (for example, intestinal polyps, fatty lumps under the skin called lipomas, and birth-mark–like spots on the penis in boys). Some children have developmental delay or learning difficulties, and a few meet criteria for autism spectrum disorder. The condition sits on a spectrum with Cowden syndrome; both are caused by harmful changes in the PTEN gene, a tumor-suppressor gene that helps control cell growth. NCBI+3MedlinePlus+3National Organization for Rare Disorders+3

BRRS (the modern name for what older papers sometimes called “Myhre-Riley-Smith”) is a rare, lifelong genetic condition. It happens when the PTEN gene does not work properly. PTEN is a “brake” that helps control how fast cells grow. When PTEN is changed (mutated), harmless tumor-like growths called hamartomas can develop in many body parts (skin, bowel, thyroid, breast, etc.). People often have a large head size (macrocephaly), lipomas (fatty lumps), intestinal polyps, and sometimes developmental or learning differences. There is no single cure. Care focuses on regular cancer screening, removing or treating growths that cause trouble, and supporting development, feeding, and daily functioning. NCBI+2Cleveland Clinic+2

The PTEN gene normally slows down cell growth. When PTEN does not work well, cells can grow too fast or in the wrong way, making hamartomas and other growth problems. Some people with BRRS also have an increased risk for certain cancers later in life (especially breast, thyroid, and uterine), so age-appropriate screening and follow-up are important. MedlinePlus+1

Other names

Doctors and articles may use several names that all refer to the same clinical spectrum. Common synonyms include:

• Bannayan–Riley–Ruvalcaba syndrome (BRRS)

• Bannayan–Ruvalcaba–Riley syndrome

• Bannayan–Zonana syndrome

• Riley–Smith syndrome

• Ruvalcaba–Myhre–Smith syndrome

• Myhre–Riley–Smith syndrome (older usage; now grouped under BRRS)
  These names appear across genetics resources and hospital pages describing PTEN-related conditions. Cleveland Clinic+3MedlinePlus+3MedlinePlus+3

Types

There is one underlying disorder linked to PTEN. “Types” mainly reflect how the syndrome shows up in different people and ages, and how it overlaps with other PTEN hamartoma tumor syndromes (PHTS):

1. Classic pediatric BRRS: early macrocephaly, intestinal hamartomas/polyps, lipomas, and (in boys) penile freckling. PubMed

2. BRRS with neurodevelopmental features: macrocephaly plus developmental delay and/or autism features. Genomics Education Programme

3. BRRS with vascular/skin findings: hemangiomas, arteriovenous malformations, and typical mucocutaneous signs (lipomas, oral papules). Genomics Education Programme

4. BRRS within the PHTS spectrum: families where some relatives meet Cowden syndrome criteria and others have BRRS features—same gene (PTEN), different expression. MedlinePlus

5. Genetically confirmed PTEN-positive BRRS: a PTEN pathogenic variant found by sequencing. NCBI

6. PTEN deletion/duplication BRRS: a larger deletion involving all or part of PTEN on chromosome 10. MedlinePlus

Take-home: clinicians use genetic results (PTEN) plus clinical pattern to label the presentation within the broader PHTS spectrum. NCBI

Causes

There is one primary cause: a pathogenic change in the PTEN gene. Below are twenty mechanisms, genetic scenarios, or modifiers that either cause BRRS or influence how it looks in an individual or family.

1. Loss-of-function PTEN sequence variant (missense, nonsense, frameshift) that weakens tumor-suppressor activity. MedlinePlus

2. Large deletion removing part/all of PTEN (copy-number variant). ERN ITHACA

3. Autosomal dominant inheritance (one altered PTEN copy is enough). MedlinePlus

4. De novo variant (the change is new in the child, not present in either parent). MedlinePlus

5. Mosaicism in the child (PTEN variant present in a subset of cells) can yield milder or patchy signs. NCBI

6. Parental germline mosaicism (rare) can explain recurrence in siblings even when parents test negative in blood. NCBI

7. Pathway effect: PI3K/AKT/mTOR signaling up-regulation when PTEN is reduced, driving tissue overgrowth and hamartomas. NCBI

8. Intestinal mucosal proliferation linked to PTEN loss can cause hamartomatous polyps. PMC

9. Dermal/soft-tissue overgrowth tendency leading to lipomas and mucocutaneous lesions. National Organization for Rare Disorders

10. Neurodevelopmental pathway effects (macrocephaly, developmental delay, ASD traits) in PTEN-related conditions. Genomics Education Programme

11. Vascular malformation predisposition (e.g., hemangiomas, AVMs) seen in PTEN syndromes. Genomics Education Programme

12. Genetic background (other common variants) that can modify severity between family members. NCBI

13. Hormonal/life-stage influences (puberty, pregnancy) that can change growth behavior of hamartomas. (Mechanistic inference within PHTS care guidance.) NCBI

14. Second-hit events in tissues (somatic changes on top of germline PTEN variant) that allow local overgrowth. NCBI

15. Nutritional status/obesity (general tumor biology factor) may affect symptom load (e.g., polyp burden); surveillance still centers on genetics. NCBI

16. Environmental exposures do not cause BRRS but, as with anyone, can influence general health and surveillance plans. NCBI

17. Family history pattern (Cowden/BRRS mix) reflecting variable expression of the same PTEN change. MedlinePlus

18. Incomplete penetrance for some features—some relatives carry the variant but show fewer signs. NCBI

19. PTEN promoter/intronic variants (less common) that reduce gene expression. NCBI

20. Unknown/undetected PTEN alterations (rare): a minority meet clinical BRRS but standard testing is negative; broader methods (exome/genome, del/dup) can help. ERN ITHACA

Common symptoms and signs

1. Large head (macrocephaly): head size above average for age; often the first clue in babies. MedlinePlus

2. High birth weight or rapid early growth: many babies are big at birth or grow quickly in infancy. Cleveland Clinic

3. Intestinal hamartomatous polyps: noncancerous growths in the gut that may cause pain, bleeding, or anemia. PubMed

4. Lipomas: soft, movable fatty lumps under the skin; harmless but can be numerous. National Organization for Rare Disorders

5. Penile freckling in boys: multiple small dark spots (pigmented macules) on the glans or shaft—very characteristic. PubMed

6. Skin and mouth lesions: trichilemmomas (tiny bumps), oral papillomas, and other benign mucocutaneous growths. Genomics Education Programme

7. Developmental delay or learning issues: may affect speech, fine motor skills, or school learning. MedlinePlus

8. Autism spectrum features (some): social communication differences and repetitive behaviors in a subset. Genomics Education Programme

9. Vascular spots or lesions: hemangiomas or other vascular malformations in the skin or deeper tissues. Genomics Education Programme

10. Thyroid nodules or disease: thyroid growths are part of PTEN syndromes and need monitoring. NCBI

11. Breast and uterine issues (teens/adults): benign growths and, later in life, higher cancer risk; surveillance matters. rarediseases.info.nih.gov

12. Skeletal differences: mild limb disproportions or joint laxity can occur in some children. MedlinePlus

13. Headache or seizures (less common): sometimes related to vascular malformations or other brain findings. Default

14. Gastrointestinal problems: belly pain, bleeding, or anemia from polyps; occasionally intussusception in children. PubMed

15. Family clustering with variable features: some relatives look like Cowden, others like BRRS—same gene. MedlinePlus

Diagnostic tests

A) Physical examination (bedside assessment)

1. Overall growth and head size assessment: plotting weight/length/head-circumference and comparing to age charts; macrocephaly is a flag for BRRS/PHTS. Genomics Education Programme

2. Skin and mucous membrane check: looking for lipomas, oral papillomas, trichilemmomas, hemangiomas, and (in boys) penile freckling. Genomics Education Programme+1

3. Abdominal exam: feeling for soft tissue masses or tenderness that might suggest intestinal polyps or lipomas. PubMed

4. Neurologic/developmental screening: observing tone, coordination, and early milestones to decide if formal testing is needed. MedlinePlus

B) Manual and functional tests

5. Standardized developmental testing (e.g., Bayley/Wechsler tools): measures cognitive, motor, and language skills to document delays. MedlinePlus

6. Autism diagnostic tools (e.g., ADOS-2/ADI-R): structured observations/interviews to confirm ASD features when suspected. Genomics Education Programme

7. Vision and hearing screening: bedside charts/otoscopy as first steps; formal audiology/ophthalmology if concerns arise. NCBI

8. Family pedigree analysis: a three-generation family history to spot PTEN-pattern clues (macrocephaly, thyroid/breast/uterine history). NCBI

C) Laboratory & pathological studies

9. Targeted PTEN gene sequencing: the key test that looks for small changes (missense, nonsense, frameshift, splice). Positive results confirm a PTEN-related syndrome. NCBI

10. PTEN deletion/duplication analysis (copy-number testing): finds larger missing or extra pieces—including whole-gene deletions—in those negative on sequencing. ERN ITHACA

11. Chromosomal microarray (CMA): broader scan for larger deletions/duplications if PTEN testing is unrevealing or to define boundaries of a deletion. ERN ITHACA

12. Exome/genome sequencing: used when presentation strongly suggests PHTS but single-gene testing is negative; can detect atypical or mosaic variants. NCBI

13. Pathology of removed polyps (GI): confirms hamartomatous histology and rules out dysplasia or cancer. PubMed

14. Basic labs if symptomatic: iron studies for suspected GI bleeding/anemia; thyroid function tests if thyroid disease is suspected. NCBI

D) Electrodiagnostic / physiologic tests

15. Electrocardiogram (ECG) when indicated pre-procedure or if symptoms suggest cardiac issues; part of general safety in patients needing anesthesia for endoscopy/surgery. (General clinical practice within PHTS care.) NCBI

16. Electroencephalogram (EEG) if seizures or concerning episodes occur. Default

17. Formal audiology with ABR (auditory brainstem response) in young children when hearing concerns or speech delay appear. NCBI

E) Imaging and endoscopic tests

18. Colonoscopy / upper endoscopy: to find and remove hamartomatous polyps, prevent bleeding, and assess polyp burden (timing individualized). PubMed

19. Thyroid ultrasound: checks for nodules; part of PTEN surveillance in older children/adults. NCBI

20. Targeted MRI/CT/US as needed: brain MRI if neurologic concerns; soft-tissue ultrasound for lipomas; pelvic/breast imaging per age-appropriate PHTS guidance. NCBI

Non-pharmacological treatments (therapies & other supports)

No single therapy fits everyone. These are common, practical options your care team may tailor to your age, symptoms, and test results.

1. Genetic counseling — Explains the PTEN change in simple terms, inheritance, family testing, and what screening is needed over a lifetime. It helps with planning pregnancies and informing relatives who may also need testing. NCBI

2. Personalized cancer surveillance plan — A written schedule for breast, thyroid, kidney, skin, colon, and (when applicable) endometrium checks. Plans typically start earlier than in the general population and continue lifelong. PubMed+1

3. Regular thyroid ultrasound — Finds thyroid nodules early so they can be watched or removed before they cause problems. PubMed

4. Breast screening (high-risk protocol) — Earlier, more frequent imaging (often including MRI) for those at increased risk. The details depend on age, sex, prior findings, and shared decision-making. facingourrisk.org

5. Kidney (renal) imaging surveillance — Periodic ultrasound (or MRI when indicated) to look for early kidney tumors. AACR Journals

6. Dermatology care — Skin checks to monitor hamartomas and other lesions; removal if they irritate, bleed, or raise concern. Nature

7. Gastroenterology care & colonoscopy — Monitoring and removing intestinal polyps to prevent bleeding, blockage, or cancer; timing individualized, often starting earlier than average. ERN ITHACA

8. Developmental (early-intervention) therapy — Infant/toddler services to support language, motor, cognitive, and social skills as early as possible. NCBI

9. Speech-language therapy — Helps with feeding/oral-motor issues and communication skills when delays or sensory issues are present. NCBI

10. Occupational therapy — Builds fine-motor skills, self-care, and adaptive strategies for school/home tasks. NCBI

11. Physical therapy — Improves posture, strength, balance, and mobility, especially when joint laxity, hypotonia, or post-surgical recovery are issues. NCBI

12. Behavioral / educational supports — Individualized education plans, behavioral therapy, and assistive technologies to maximize learning and independence. NCBI

13. Nutritional counseling — Tailors fiber/fluids to support bowel health, weight management, and recovery after GI procedures; coordinates with surveillance for polyps. ERN ITHACA

14. Pain and symptom management strategies — Non-drug methods (positioning, heat/ice, mindfulness, pelvic floor therapy) to reduce discomfort from lipomas or procedures. NCBI

15. Fertility and family-planning counseling — Discusses pregnancy risks, timing of risk-reducing actions, and options like IVF with genetic testing when appropriate. NCBI

16. Psychosocial support & peer groups — Reduces stress, improves coping, and connects families with experienced centers and patient foundations. Cleveland Clinic

17. Routine dental/ENT checks — Useful when macrocephaly, airway, or jaw features affect bite, sleep, or breathing; coordinates with anesthesia planning for procedures. NCBI

18. Sun protection & skin-care routines — Practical prevention while you and your clinicians monitor skin lesions over time. PubMed

19. Vaccination up-to-date — Standard immunizations per national schedules; important if any immunosuppressive drug is ever used for complications. FDA Access Data

20. Written emergency plan — For families managing bowel bleeding, severe abdominal pain (possible intussusception), or post-procedure complications: what to watch, who to call, and where to go. PubMed

Drug treatments

Key truth first: There is no FDA-approved medicine that “treats BRRS/PHTS itself.” Medicines are used to treat complications (e.g., thyroid disease, polyps, pain) or are being studied to target the overactive PI3K–AKT–mTOR pathway caused by PTEN loss. Two pathway blockers—sirolimus and everolimus—have early evidence and are FDA-approved for other conditions (transplant, cancers), not specifically for BRRS/PHTS. Always use shared decision-making with specialists and follow the original FDA labels for dosing/safety. PMC+2PubMed+2

Below are illustrative options commonly discussed for manifestations. Doses are label-based starting points for their approved uses; actual dosing for an individual with BRRS may differ or be off-label and must be set by a clinician.

1. Sirolimus (Rapamune®) — mTOR inhibitor. Used off-label in PHTS research to calm the overgrowth signaling pathway; studies show pathway suppression and symptom improvement in select cases. Typical label doses for transplant prophylaxis begin with a loading dose then daily maintenance, adjusted by blood levels; major risks include infection and mouth ulcers. Not approved for BRRS/PHTS. PMC+2PubMed+2

2. Everolimus (Afinitor®/Afinitor Disperz®) — mTOR inhibitor. Studied/under study for PTEN-related syndromes to reduce polyp burden or other manifestations; label-approved for other indications (e.g., SEGA, certain cancers). Dosing is once daily, titrated by trough levels and interactions. Side effects: stomatitis, infections, metabolic changes. Not approved for BRRS/PHTS. ClinicalTrials.gov+2Lippincott Journals+2

3. Levothyroxine — For hypothyroidism if the thyroid is underactive or after thyroid surgery. Daily weight-based dosing; narrow therapeutic index; avoid using for weight loss. Helps normalize thyroid hormone levels and energy. FDA Access Data

4. Proton-pump inhibitor (e.g., omeprazole) — For reflux or gastric irritation from frequent procedures or GI bleeding risk due to polyps; dose and duration per label; aim for symptom control while GI team manages polyps. (FDA label evidence is for acid-related disease, not BRRS.) ERN ITHACA

5. Iron therapy (oral or IV ferric carboxymaltose/others) — For iron-deficiency anemia from polyp bleeding; dose individualized by weight and hemoglobin/ferritin. Restores red-cell mass and reduces fatigue while the source of bleeding is treated. (Use specific product label chosen by clinician.) ERN ITHACA

6. Analgesics (acetaminophen; cautious NSAID use) — Pain relief after procedures or from symptomatic lipomas; acetaminophen is first-line; NSAIDs may increase bleeding risk and must be individualized. (Follow product labels; avoid exceeding max daily doses.) ERN ITHACA

7. Antiemetics (ondansetron) — Short-term control of post-procedural nausea to maintain hydration and medication adherence. Use per label dosing (age/weight/route). ERN ITHACA

8. Topical therapies (dermatology-guided) — For irritated skin lesions (e.g., topical antibiotics or steroids briefly when inflamed); exact product and regimen per dermatology evaluation and label. Nature

9. Bowel-prep and mucosal protectants — Used around colonoscopy/polypectomy to ensure safe visualization and protect GI mucosa; exact products follow endoscopy protocols. ERN ITHACA

10. Antibiotics (procedure-related, when indicated) — Peri-procedural or infection-specific use, following local guidelines and drug labels. ERN ITHACA

11. Thyroid nodule/cancer management drugs — If thyroid cancer occurs, oncologists may use standard thyroid cancer medicines per guidelines and labels (e.g., levothyroxine suppression); individualized to pathology and stage. PMC

12. Bowel regimen (polyethylene glycol, stool softeners) — Keeps stools soft to lower straining and post-polypectomy irritation; doses per label and clinician guidance. ERN ITHACA

13. Vitamin D and calcium (when deficient) — Corrects deficiency that may affect bone health if activity is limited or after repeated procedures; lab-guided dosing per national recommendations and product labels. (Supplement details below.) NCBI

14. Antihypertensives or lipid-lowering agents (if needed) — Treat general cardiometabolic risks per standard indications and labels; not BRRS-specific but important for overall health during lifelong surveillance. PubMed

15. Anxiolytics/sedation (procedure-related) — Short-term, clinician-administered for imaging/endoscopy comfort; dosing and monitoring follow anesthesia/endoscopy protocols. ERN ITHACA

16. Topical/oral agents for mouth ulcers — Supportive care if mTOR inhibitors cause stomatitis (common). Regimens include steroid mouthwashes per oncology protocols and product labels. FDA Access Data

17. Antihistamines or topical anti-itch measures — For irritated skin lesions; product choice and duration per dermatology advice. Nature

18. Prophylactic antivirals/antimicrobials (select cases) — Considered only when significant immunosuppression is used (e.g., with mTOR inhibitors in trials) and per infectious-disease guidance. FDA Access Data

19. Hormonal therapies (gynecology-directed) — For abnormal uterine bleeding (if present) or endometrial risk management in adult patients; chosen per standard gynecology guidelines. PubMed

20. Emergency medicines (clinician-guided) — For acute GI bleeding or severe reactions around procedures, following standard emergency protocols and drug labels at the treating facility. ERN ITHACA

Important: Items 1–2 (sirolimus/everolimus) are not FDA-approved for BRRS/PHTS; they are discussed only in the context of research/individualized off-label care, with safety anchored in the FDA labels for their approved uses. FDA Access Data+1

Dietary molecular supplements

No supplement cures BRRS. Always check with your clinician, especially if you undergo frequent procedures or might use mTOR inhibitors.

1. Vitamin D3 — Supports bone and immune health when blood levels are low; typical maintenance after correction is daily or weekly per labs. Vitamin D status should be monitored to avoid excess. NCBI

2. Calcium — For bone health if dietary intake is low; divide doses to improve absorption and avoid constipation; coordinate with Vitamin D and dental care plans. NCBI

3. Omega-3 fatty acids (fish oil) — May support cardiometabolic health; dosing varies by formulation; pause before procedures if your team advises (bleeding risk discussion). PubMed

4. Soluble fiber (psyllium/inulin) — Helps stool form and regularity around polyp surveillance; start low, go slow, and maintain hydration. ERN ITHACA

5. Probiotics — May support bowel comfort; choose products with studied strains; stop if bloating or if your team advises around procedures. ERN ITHACA

6. Iron (when deficient) — See “Drug treatments” above; supplement form and dose depend on labs and tolerance. ERN ITHACA

7. Folate & B12 (if low) — Correct documented deficiencies that worsen anemia or neuropathy; recheck levels to avoid overtreatment. NCBI

8. Protein supplements (as needed) — Helpful during recovery from surgeries/procedures to meet protein targets when appetite is low. ERN ITHACA

9. Electrolyte solutions — Maintain hydration during bowel preps or when illness reduces intake; use as instructed by your GI team. ERN ITHACA

10. Multivitamin (standard dose) — Fills dietary gaps without megadoses; avoid high-dose antioxidants unless your team recommends them. NCBI

Immunity-booster / regenerative / stem-cell drugs

Straight talk: There are no approved “immunity booster,” regenerative, or stem-cell drugs for BRRS/PHTS. Immune-pathway drugs (like sirolimus/everolimus) are being studied to counter the mTOR overactivation caused by PTEN loss; they are immunosuppressive, not “boosters.” Stem-cell therapies are not standard for BRRS. Keep vaccines current and avoid unproven “regenerative” products. PMC+1

• Sirolimus (see above): research use to dampen mTOR signaling; dosing by trough levels; risks include infections and mouth ulcers. PMC

• Everolimus (see above): similar rationale; used in trials/selected cases; monitor labs and drug interactions. Lippincott Journals

• Standard vaccines: the safest, truly evidence-based way to reduce infectious risk; schedule per national guidelines. FDA Access Data

• Nutrition & sleep optimization: non-drug but foundational for immune function, coordinated with clinicians. NCBI

• Infection-prevention protocols during procedures: sterile technique and peri-procedural antibiotics when indicated. ERN ITHACA

• Avoid unregulated stem-cell clinics: not proven for BRRS; may be harmful. Coordinate care through specialists and research centers. NCBI

Surgeries / procedures

1. Endoscopic polypectomy — A colonoscope is used to find and remove intestinal polyps. This prevents bleeding, blockage, and lowers future cancer risk. Repeat intervals depend on findings. ERN ITHACA

2. Emergency reduction/surgery for intussusception — In children, a bowel segment can telescope into another; urgent radiologic reduction or surgery prevents bowel damage. PubMed

3. Thyroid surgery — Removal of suspicious nodules or thyroid cancer; sometimes total thyroidectomy to manage high-risk disease. Followed by thyroid-hormone replacement. PMC

4. Dermatologic excision of symptomatic hamartomas/lipomas — Office-based or outpatient removal if lesions are painful, bleeding, or functionally limiting. Nature

5. Breast procedures — Image-guided biopsy or surgery for lesions found on high-risk screening; plans are individualized with the breast team. facingourrisk.org

Preventions

1. Follow your written surveillance plan and keep appointments. PubMed

2. Know urgent red flags (new GI bleeding, severe abdominal pain, fast-growing lump). PubMed

3. Sun protection and skin self-checks between dermatology visits. Nature

4. Healthy weight, regular activity, and no tobacco to support surgical recovery and reduce overall cancer risk. PubMed

5. Vaccinations on schedule. FDA Access Data

6. Share a family letter from genetics so relatives can seek testing/surveillance if appropriate. NCBI

7. Keep a medication/procedure log to help new doctors quickly understand your history. NCBI

8. Discuss pregnancy plans early with genetics/obstetrics teams. NCBI

9. Coordinate anesthesia plans if macrocephaly/airway issues exist. NCBI

10. Use trained centers familiar with PTEN conditions when possible. Cleveland Clinic

When to see a doctor urgently

• Black or bloody stools, vomiting blood, or severe belly pain (could be bleeding polyps or intussusception). PubMed

• A rapidly enlarging lump, new hard thyroid nodule, or unexplained weight loss. PubMed

• New neurological signs (fainting, severe headache), fever, or painful mouth ulcers if on an mTOR inhibitor. FDA Access Data

What to eat / what to avoid

1. Plenty of fluids and fiber (vegetables, fruits, oats, psyllium) to keep stools soft and regular. ERN ITHACA

2. Lean proteins (fish, eggs, beans) to aid healing after procedures. ERN ITHACA

3. Calcium- and Vitamin-D–rich foods or supplements when low (per labs). NCBI

4. Limit ultra-processed foods high in salt/sugar, which can worsen energy and recovery. NCBI

5. If iron-deficient, include iron-rich foods (lentils, red meat in moderation) and pair with vitamin C; discuss supplements. ERN ITHACA

6. Caffeine and alcohol in moderation; ask your team before alcohol if taking medicines that interact. FDA Access Data

7. Before procedures, follow your GI team’s prep diet exactly. ERN ITHACA

8. With mouth ulcers (on mTOR therapy), prefer soft, non-acidic foods; avoid spicy/rough textures until healed. FDA Access Data

9. Food safety: wash produce well and avoid undercooked meats, especially if immunosuppressed in trials. FDA Access Data

10. Supplements only as needed, at standard doses, and recorded in your chart to avoid interactions. NCBI

Frequently asked questions

1. Is there a cure?
   No. Management focuses on screening, removing problematic growths, and supporting development and quality of life. NCBI

2. Is cancer guaranteed?
   No. Risk is higher than average, so extra screening aims to find problems early when they are most treatable. PubMed

3. Do all patients have a proven PTEN mutation?
   Not always. Many do, but a minority have classic features without an identifiable mutation on today’s tests. Care is still based on features and risk. Cleveland Clinic

4. What about children?
   Children need growth/development support and age-appropriate surveillance; plans mature over time. PMC

5. Are mTOR inhibitors a standard treatment?
   Not yet. They are being studied in PHTS to calm the overgrowth pathway; they carry risks and must be used by specialists with careful monitoring. PMC+1

6. Should family members be tested?
   Yes, when genetics recommends it, because results guide surveillance. NCBI

7. Can diet fix this?
   No. Diet supports general health and bowel comfort but does not correct the PTEN gene change. NCBI

8. What if my thyroid ultrasound or breast MRI shows a nodule?
   Your team will follow standard pathways for biopsy or surgery as needed. PMC+1

9. Are there experimental trials?
   Yes. Some centers study mTOR pathway drugs and other approaches for PHTS features. Ask your genetics clinic about open trials. ClinicalTrials.gov

10. Can this affect learning or behavior?
    Some people need extra learning and therapy supports; early intervention helps. NCBI

11. How often do I need colonoscopies?
    Timing is individualized and often earlier/more frequent than average based on polyp burden and guidelines. ERN ITHACA

12. What about skin lumps?
    Many are benign hamartomas or lipomas; remove only if bothersome or concerning. Nature

13. Is pregnancy safe?
    Most people plan pregnancy with genetics/obstetrics input and tailored surveillance. NCBI

14. Which doctor coordinates all this?
    Usually genetics plus a primary clinician, with referrals to GI, endocrinology, dermatology, oncology, and surgery as needed. NCBI

15. Why is the name so confusing?
    Older case series used different names; once the PTEN link was found, they were unified under BRRS. University of Iowa Health Care+1

Disclaimer: Each person’s journey is unique, treatment plan, life style, food habit, hormonal condition, immune system, chronic disease condition, geological location, weather and previous medical  history is also unique. So always seek the best advice from a qualified medical professional or health care provider before trying any treatments to ensure to find out the best plan for you. This guide is for general information and educational purposes only. Regular check-ups and awareness can help to manage and prevent complications associated with these diseases conditions. If you or someone are suffering from this disease condition bookmark this website or share with someone who might find it useful! Boost your knowledge and stay ahead in your health journey. We always try to ensure that the content is regularly updated to reflect the latest medical research and treatment options. Thank you for giving your valuable time to read the article.

The article is written by Team RxHarun and reviewed by the Rx Editorial Board Members

Last Updated: October 17, 2025.

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