Maroteaux-Le-Merrer-Bensahel syndrome is the name used for carpotarsal osteochondromatosis (CTOC), an ultra-rare primary bone dysplasia marked by abnormal bone proliferation/osteochondromas in the carpal and tarsal bones.
Maroteaux–Le Merrer–Bensahel syndrome is another name for carpotarsal osteochondromatosis (CTOC). It is a very rare bone growth disorder. It mainly affects the small bones of the wrists (carpal bones) and ankles (tarsal bones). Extra cartilage and bone grow in these areas. These overgrowths are called osteochondromas. They can make the joints look swollen and feel stiff. They can reduce joint movement. In most reports, the growths are non-cancerous. National Organization for Rare Disorders+1
Carpotarsal osteochondromatosis (also called Maroteaux-Le-Merrer-Bensahel syndrome) is a very rare condition that affects how bone develops, mainly in the small bones of the wrists (carpal) and ankles/feet (tarsal). Extra bony lumps called osteochondromas grow near joints. These lumps are benign (not cancer). They can cause swelling, pain, stiffness, nerve irritation, and limited motion. Some people have many growths; others have fewer. The condition can be inherited in families in a dominant pattern, but published cases are few. Treatment is usually watchful waiting, pain control, physiotherapy, and surgery to remove growths that press on tendons, nerves, or joints or that block movement.
Doctors first described a dominant family pattern in 1993 (a mother and son). Because it involved overgrowths around joint ends, the authors linked it to dysplasia epiphysealis hemimelica (also called Trevor disease), a developmental overgrowth of joint cartilage. That historic paper is why the condition is also called Maroteaux–Le Merrer–Bensahel syndrome. PMC
Some rare-disease catalogs list CTOC as autosomal dominant, with a prevalence under 1 in 1,000,000. This means it can pass from a parent to a child, although many people have sporadic (no family history) cases. Orpha
Other names
This condition is known by several names in the medical literature. These include carpotarsal osteochondromatosis, dominant carpotarsal osteochondromatosis, and Maroteaux–Le Merrer–Bensahel syndrome. Some authors discuss it next to dysplasia epiphysealis hemimelica (Trevor disease), because both show overgrowths of cartilage near the ends of bones. PubMed+2PMC+2
This syndrome is a primary bone dysplasia. That means the problem starts in how bone and cartilage form and grow. The body makes excess cartilage near the joint ends. That cartilage then turns into bone. The result is bumpy, irregular bone masses around the wrist and ankle joints. These masses can be on one side or both sides. They may slowly enlarge. They can limit movement and change joint shape. Pain is variable. Many people notice painless swelling first, then stiffness. National Organization for Rare Disorders+1
Types
Doctors do not use a strict, universal subtype system for this specific syndrome. But for practical care, clinicians often describe it in four simple ways:
1) By location.
• Carpal-predominant: mostly in the wrist.
• Tarsal-predominant: mostly in the ankle.
• Combined carpal-tarsal: both areas.
This mirrors how rare-disease summaries describe the disorder (wrist and/or ankle involvement). National Organization for Rare Disorders
2) By laterality.
• Unilateral: one side of the body.
• Bilateral: both sides.
The original paper and later reviews note that one or both sides can be affected. PMC
3) By severity.
• Mild: small masses with minor stiffness.
• Moderate: larger masses, clear loss of movement, change in joint line.
• Severe: major masses, joint deformity, secondary arthritis.
These severity bands reflect typical clinical progression of osteochondromatous overgrowth around joints. PMC
4) By tempo (onset and growth).
• Slow-growing nodules over years.
• Stepwise growth with periods of change.
Rare-disease summaries emphasize chronic evolution rather than sudden changes. National Organization for Rare Disorders
Causes
For this rare syndrome, one single cause gene has not been firmly established. However, researchers and clinicians point to a mix of genetic and developmental factors. Below are 20 cause-level or mechanism-level factors discussed in the literature on CTOC and closely related epiphyseal overgrowth disorders (like dysplasia epiphysealis hemimelica). I explain each in simple terms and indicate the evidence frame.
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Autosomal dominant inheritance in some families.
A classic report documented a mother and son with the disorder. This shows that, at least in some families, a single altered factor passed from parent to child can drive the condition. PMC -
Sporadic developmental error.
Many cases are isolated with no family history. This suggests a developmental “misstep” in local cartilage growth during childhood or adolescence. National Organization for Rare Disorders -
Local overgrowth of epiphyseal cartilage.
The disorder behaves like a localized surge of cartilage production near joint ends. This is a core feature of dysplasia epiphysealis hemimelica as well. SpringerLink -
Abnormal endochondral ossification.
Cartilage normally turns into bone in a controlled way. Here, that process goes off-track locally, producing extra bone masses. PMC -
Mosaic changes in growth-plate signaling (hypothesized).
Experts often consider mosaic changes—where only some cells carry a change—as a reason focal overgrowths stay limited to certain joints. This concept is widely used to explain focal skeletal overgrowths. SpringerLink -
Disturbance in cartilage growth regulators.
Pathways like IHH/PTHrP guide cartilage growth. When these controls are locally disturbed, cartilage can overgrow. This is a general mechanism in osteochondromatous conditions. SpringerLink -
Abnormal joint loading (secondary influence).
While not a root cause, unusual stress on joints can worsen growth of existing lesions and symptoms. This is a common clinical observation in cartilage/bone overgrowth near weight-bearing joints. SpringerLink -
Differences from osteolysis syndromes.
It is important to separate CTOC from multicentric carpotarsal osteolysis (MCTO), which destroys bone and is tied to MAFB gene changes. CTOC shows overgrowth, not osteolysis; this distinction helps focus on correct mechanisms. PubMed -
Growth-plate asymmetry.
Uneven growth across a plate can create a bony mass on one side of a joint (as seen in related epiphyseal overgrowth disorders). SpringerLink -
Abnormal cartilage matrix turnover.
If the body builds cartilage faster than it remodels it, masses can enlarge over time. This imbalance is consistent with reported osteochondromatous changes. PMC -
Local vascular (blood supply) factors.
Changes in local blood flow may influence cartilage proliferation and ossification in focal dysplasias, acting as a modifier of lesion growth. SpringerLink -
Periosteal signaling imbalance.
The periosteum (bone surface layer) helps guide bone formation. Local signaling changes here can add to extra bone formation. SpringerLink -
Mechanical impingement feedback.
As a mass grows, it rubs on nearby structures. This irritation can stimulate more bone formation in a cycle of growth and impingement. SpringerLink -
Cartilage cap persistence.
Osteochondromas often have a cartilage cap. If that cap stays active, the lesion can keep growing while growth plates are open. SpringerLink -
Developmental pathway crosstalk errors.
Multiple growth pathways talk to each other to balance growth. Local errors in this “conversation” can lead to unchecked cartilage growth. SpringerLink -
Matrix mineralization delay.
If mineralization lags behind cartilage production, bulky masses can form before they harden fully, then ossify irregularly. SpringerLink -
Epiphyseal cartilage cell (chondrocyte) proliferation shift.
Chondrocytes may divide more than usual in a small, focused area near the joint, building the mass. SpringerLink -
Genetic heterogeneity (unknown driver).
Because few families are reported and no single gene is confirmed for CTOC, there may be different genetic reasons that converge on the same look and behavior. Orpha -
Overlap with disorders of cartilage modeling.
CTOC shares features with Trevor disease, which is thought to be a developmental modeling disorder rather than a classic tumor. This overlap supports a shared cause theme of local growth modeling errors. SpringerLink -
Age and growth-plate status.
Lesions often declare themselves while growth plates are active. After growth plates close, activity tends to slow, but stiffness or arthritis may remain. This pattern is typical for osteochondromatous lesions near joints. PMC
In summary: some families show autosomal dominant inheritance, but most causes are developmental and local. No single “CTOC gene” has been confirmed. CTOC must be distinguished from osteolysis syndromes (like MCTO) that have different biology and MAFB mutations. PMC+1
Symptoms
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Painless swelling at the wrist or ankle.
People often first notice a firm, bony swelling that does not hurt at rest. It reflects the extra bone/cartilage mass. National Organization for Rare Disorders -
Stiffness and reduced range of motion.
Overgrowth near joint surfaces blocks smooth motion. Stiffness can limit bending and turning of the joint. National Organization for Rare Disorders -
Restricted daily use of the joint.
Tasks like squatting, running, or twisting the wrist can become hard due to blocked motion or catching. PMC -
Visible deformity or asymmetry.
The joint may look bigger or misshapen compared to the other side. This is due to the mass changing the joint outline. PMC -
Intermittent pain, especially with activity.
While many have little pain at first, repeated movement and impingement can cause aching or sharp pain. National Organization for Rare Disorders -
Tenderness on pressure or after heavy use.
Pressing on the mass or using the joint a lot can bring local soreness. PMC -
Clicking or grinding (crepitus).
Irregular joint surfaces or rubbing masses can cause noises or a grinding feel. SpringerLink -
Reduced grip strength or push-off strength.
Wrist masses can weaken grip; ankle masses can reduce push-off in walking. Function loss tracks with stiffness. PMC -
Gait changes.
Ankle involvement can alter walking, causing limping or uneven steps. National Organization for Rare Disorders -
Recurrent sprains or instability feelings.
Extra bone can change joint mechanics and make the joint feel unstable or prone to sprain. SpringerLink -
Nerve irritation (tingling or numbness).
A mass may press on a nearby nerve (e.g., median or ulnar at the wrist; tibial or peroneal branches at the ankle), causing paresthesia. PMC -
Tendon snapping or friction.
Tendons may rub over bony edges, leading to a snapping sensation or tendonitis. SpringerLink -
Limited fine movements.
Wrist involvement can make tasks like buttoning or writing harder when motion is blocked. PMC -
Early joint wear (secondary osteoarthritis).
Irregular contact surfaces can wear down cartilage and produce arthritis over time. SpringerLink -
Cosmetic concerns.
Visible swelling can be troubling even if pain is mild, and patients often seek care for appearance plus function. National Organization for Rare Disorders
Diagnostic tests
A) Physical examination (bedside assessment)
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Inspection of wrists and ankles.
The doctor looks for lumps, swelling, and asymmetry. CTOC often shows firm, bony-feeling masses near the joint. National Organization for Rare Disorders -
Palpation of masses.
Feeling the edges helps judge size, firmness, and tenderness. Osteochondromatous masses are usually hard with a smooth or lobulated surface. PMC -
Range-of-motion testing.
The clinician measures how far the joint can move. CTOC often limits dorsiflexion/plantarflexion (ankle) or flexion/extension (wrist). PMC -
Gait examination.
Ankle disease can cause limping or shortened stride. Watching the walk shows how much the ankle is affected. National Organization for Rare Disorders -
Neurovascular check.
Sensation, strength, and pulses are tested. Nerve pressure from a mass can change sensation or cause weakness. PMC
B) Manual/functional tests (simple office maneuvers)
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Provocative compression tests.
Gentle pressure over the mass during motion may reproduce pain or clicking, mapping impingement. SpringerLink -
Grip strength and pinch tests (wrist cases).
These quick tests show functional loss in hand use when carpal bones are involved. PMC -
Single-leg stance and heel-rise (ankle cases).
These maneuvers show ankle power and endurance. Weakness or pain can reveal functional limits from tarsal masses. National Organization for Rare Disorders -
Ligament laxity and stability checks.
Extra bone can change joint line and mimic instability. Manual tests check for real ligament looseness versus bony blockage. SpringerLink -
Tendon glide tests.
The examiner moves tendons through their paths to feel for snapping or blockage caused by the mass. SpringerLink
C) Laboratory and pathological tests
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Routine blood tests (screening).
CBC, CRP, and ESR are usually normal in CTOC. These tests help rule out infection or inflammatory arthritis if symptoms suggest those. National Organization for Rare Disorders -
Metabolic bone panel (when indicated).
Calcium, phosphate, alkaline phosphatase, and vitamin D may be checked to rule out other bone disorders that could mimic bony swellings. SpringerLink -
Pathology of excised tissue (if surgery is done).
A removed mass can be studied under the microscope. Typical findings match osteochondroma (cartilage cap over bone). This confirms the nature of the lesion. PMC -
Genetic testing (contextual).
No single gene is confirmed for CTOC. Genetic testing is mainly used to exclude look-alikes (e.g., MAFB mutations in multicentric carpotarsal osteolysis, which is a different, destructive disorder). PubMed
D) Electrodiagnostic tests
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Nerve conduction studies (if numbness/tingling).
If a mass presses on a nerve (like the median nerve at the wrist), tests can show slowed signals. This helps plan surgery if needed. SpringerLink -
Electromyography (EMG) for muscle involvement.
If weakness is present, EMG helps decide whether nerve pressure from a mass is part of the problem. SpringerLink
E) Imaging tests
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Plain X-rays (first-line).
X-rays often show bony outgrowths near the joint ends of the wrist and ankle. They are the quickest way to see size, number, and position of lesions. PMC -
Magnetic Resonance Imaging (MRI).
MRI shows the cartilage cap, bone marrow, tendons, nerves, and joint surfaces. It helps plan surgery by mapping the true extent of the lesion. (MRI is widely used in epiphyseal overgrowth disorders.) SpringerLink -
Computed Tomography (CT).
CT shows bone detail clearly. It is useful for complex wrist/ankle anatomy and for planning precise bone cuts if surgery is needed. SpringerLink -
Ultrasound (focused questions).
Ultrasound can assess soft tissues, tendon friction over the mass, and the superficial cartilage cap. It is radiation-free and helpful at the bedside. SpringerLink
Non-pharmacological treatments (therapies & others)
1) Individualized physiotherapy program.
Purpose: keep joints moving, reduce pain, and protect function. Mechanism: guided range-of-motion (ROM) work, gradual strengthening, and motor-control exercises improve joint mechanics around the wrist/ankle and reduce overload on painful tissues. Physiotherapy after osteochondroma excision helps restore mobility and strength and retrains movement patterns to avoid recurrence of stiffness. Programs are adjusted to pain levels and surgical timelines. Evidence from osteochondroma and benign bone tumor rehab supports post-op ROM and strengthening as core elements of recovery. Physiopedia
2) Activity modification & pacing.
Purpose: limit flare-ups and protect irritated joints. Mechanism: swapping high-impact, repetitive tasks (jumping, long runs, heavy gripping) for low-impact activities reduces shear and compression on the carpal/tarsal joints and on osteochondroma surfaces that can be tender. Planned rest breaks (pacing) lower cumulative mechanical stress that drives pain. This conservative approach is first-line in benign bone tumors where most lesions can be safely observed unless symptomatic. Medscape+1
3) Splinting or soft bracing.
Purpose: short-term pain relief and support during tasks. Mechanism: neutral-position wrist splints or lace-up ankle braces limit extremes of motion that provoke impingement from a bony outgrowth. Intermittent use (not full-time) balances protection with maintaining strength and ROM—standard conservative care for symptomatic benign bone lesions affecting peri-articular mechanics. Medscape
4) Custom footwear and orthotics.
Purpose: improve foot alignment and shock absorption. Mechanism: cushioned insoles, medial/lateral posting, or rocker-bottom soles redistribute plantar pressures and reduce painful loading across affected tarsal regions. Orthotic off-loading is a common strategy for foot/ankle benign bone conditions to improve tolerance for standing and walking. Hospital for Special Surgery
5) Hand therapy/occupational therapy.
Purpose: optimize daily function and job tasks. Mechanism: OT uses joint-protection techniques, assistive tools (jar openers, ergonomic keyboards), and graded task practice to limit painful shear across the carpus while maintaining independence. Hand therapy protocols mirror those used after osteochondroma excision to restore dexterity and grip without provoking symptoms. Physiopedia
6) Heat therapy (for stiffness).
Purpose: reduce stiffness before exercise. Mechanism: superficial heat increases tissue extensibility and local blood flow, easing ROM work. Commonly used in peri-articular benign lesions where capsular tightness and reactive synovitis increase stiffness. Medscape
7) Ice therapy (for flares).
Purpose: calm short-term pain after activity. Mechanism: cold reduces local nerve conduction and inflammatory vasodilation, helping “settle” a reactive joint after loading—standard symptomatic care in musculoskeletal tumors that are benign but irritable. Medscape
8) Progressive strengthening (proximal and local).
Purpose: improve support around the wrist/ankle. Mechanism: strengthening the calf, intrinsic foot muscles, forearm flexors/extensors, and shoulder/hip stabilizers spreads load over more tissue and reduces joint micro-instability that can aggravate symptoms. Evidence from osteochondroma rehab highlights strength plus ROM to restore function. Physiopedia
9) Balance and proprioception training.
Purpose: prevent falls and ankle sprains. Mechanism: wobble-board and single-leg drills improve neuromuscular control so unexpected forces are better absorbed, protecting symptomatic tarsal regions and surgical sites. Hospital for Special Surgery
10) Hydrotherapy or pool walking.
Purpose: low-load conditioning when land exercise hurts. Mechanism: buoyancy unloads joints while water resistance maintains cardiovascular fitness and ROM. This is a common strategy in painful benign bone and cartilage conditions around joints. Medscape
11) Ergonomic adjustments at work/school.
Purpose: reduce repetitive strain. Mechanism: keyboard height, forearm supports, cushioned mats, and task rotation reduce sustained wrist extension/flexion and foot loading that inflame peri-osteochondroma tissues. Medscape
12) Education on red flags & self-management.
Purpose: empower safe choices and early review. Mechanism: teach warning signs (rapid mass growth, night pain, numbness/weakness) and flare-control plans so patients seek timely care and avoid over-resting or over-loading. In osteochondromas, sudden growth or new pain can signal complications and prompts imaging/surgical review. NCBI+1
13) Weight management when relevant.
Purpose: reduce foot/ankle load. Mechanism: modest weight reduction lowers compressive forces each step, easing symptoms in load-bearing joints. This principle is widely applied in lower-limb joint disorders to reduce pain and improve function. Hospital for Special Surgery
14) Gait retraining.
Purpose: improve walking efficiency and reduce painful compensations. Mechanism: cues for step width, stride, and push-off redistribute forces away from tender tarsal areas; combined with footwear and orthoses. Hospital for Special Surgery
15) Stretching (calf, hamstrings, forearm).
Purpose: restore normal joint excursion. Mechanism: gentle, sustained stretches reduce myofascial tension that otherwise pulls across symptomatic joints and surgical scars, helping ROM gains stick. Physiopedia
16) Pain-coping skills (CBT-informed).
Purpose: reduce pain distress and improve activity. Mechanism: cognitive-behavioral tools (pacing, graded exposure) lessen fear-avoidance and support consistent, safe exercise in chronic musculoskeletal conditions, including benign tumors with persistent pain. Medscape
17) Home safety & fall-prevention setup.
Purpose: prevent injuries around painful ankles/feet. Mechanism: night lights, clear walkways, supportive house shoes, and railings reduce mis-steps that can acutely aggravate symptoms. Hospital for Special Surgery
18) Post-operative rehab pathways.
Purpose: predictable return of function after excision. Mechanism: staged goals—edema control, scar care, ROM, strength, then sport/occupation—reflect best practice after benign bone tumor surgery, with low recurrence if excision is complete. WJPMR+1
19) Periodic imaging surveillance when indicated.
Purpose: track lesion stability and watch for complications. Mechanism: X-ray/MRI documents size, cartilage cap, and relation to nerves/tendons; imaging guides timing for surgery in symptomatic lesions. American Journal of Roentgenology
20) Patient support & rare-disease resources.
Purpose: practical help for navigation and care coordination. Mechanism: connecting with rare-disease information centers improves access to specialist teams and realistic expectations, crucial because only a small fraction of rare diseases have targeted treatments. Genetic Rare Diseases Center
Drug treatments
These medicines are used to control pain, inflammation, or peri-operative needs. Always individualize dosing and check contraindications. Citations point to current FDA labels for indication/safety language.
1) Acetaminophen (paracetamol).
Class: analgesic/antipyretic. Typical dose/time: 500–1,000 mg every 6–8 h, not >3,000–4,000 mg/day (consider lower limits with liver disease or combined products). Purpose/mechanism: central COX inhibition reduces pain without anti-platelet effects; useful baseline analgesic and as an NSAID-sparing option. Key safety: hepatotoxicity risk above max daily dose or with alcohol. FDA Access Data+1
2) Ibuprofen (Rx/OTC).
Class: NSAID. Dose/time (adult OTC): 200–400 mg every 4–6 h; Rx doses higher per label. Purpose: short-term relief of musculoskeletal pain flares and post-op soreness. Mechanism: COX-1/2 inhibition reduces prostaglandin-mediated inflammation. Safety: boxed warnings for GI bleeding and CV events; avoid right before/after CABG; renal cautions. FDA Access Data+1
3) Naproxen / Naproxen sodium.
Class: NSAID. Dose/time (OTC sodium): 220 mg every 8–12 h (max per label); Rx doses individualized. Purpose: longer-acting NSAID option for day-long coverage. Safety: same NSAID class warnings (CV/GI/renal); allergic reactions possible. FDA Access Data+1
4) Celecoxib.
Class: COX-2 selective NSAID. Dose/time: common OA doses 200 mg daily or 100 mg twice daily (tailor per label). Purpose: anti-inflammatory pain relief with lower GI ulcer risk vs nonselective NSAIDs, but class CV warning remains. Mechanism: selective COX-2 inhibition. Safety: boxed CV and GI risk; caution with anticoagulants. FDA Access Data+1
5) Topical diclofenac gel (adjunct for localized pain).
Class: topical NSAID. Dose/time: per label (e.g., measured grams to affected joint up to four times daily). Purpose: local anti-inflammatory effect with reduced systemic exposure—helpful over tender osteochondroma areas. Safety: systemic NSAID warnings still apply, though exposure is lower. Medscape
6) Short peri-operative antibiotics (e.g., cefazolin).
Class: first-generation cephalosporin. Dose/time: single pre-incision dose and limited post-op per surgical protocols. Purpose: reduce surgical-site infection risk during excision/synovectomy. Mechanism: bactericidal cell-wall inhibition. (Follow local antimicrobial guidance; label safety includes allergy/C. difficile warnings.) Lippincott Journals
7) Tramadol (selected cases, short durations).
Class: centrally acting analgesic. Dose/time: short-course for acute post-op pain when NSAIDs/acetaminophen insufficient. Purpose: step-up pain control. Safety: dizziness, dependence, serotonin syndrome with SSRIs—use cautiously and briefly, per label. Medscape
8) Short-course opioids (e.g., oxycodone) after surgery.
Class: opioid analgesic. Dose/time: lowest effective dose for shortest time. Purpose: rescue analgesia for immediate post-operative pain. Safety: respiratory depression, dependence; taper quickly with a multimodal plan centered on acetaminophen/NSAIDs. Medscape
9) Proton-pump inhibitor (e.g., omeprazole) when high-risk NSAID use is unavoidable.
Class: acid suppression. Purpose: reduce NSAID-associated upper-GI ulcer/bleed risk in older adults or those with ulcer history. Safety: label cautions include fractures and C. difficile with long-term use—reserve for clear indications. Medscape
10) H2-blocker (e.g., famotidine) as an alternative GI strategy.
Purpose: some protection from upper-GI toxicity when NSAIDs are required and PPI not desired; less potent than PPIs. Follow label dosing and renal adjustments. Medscape
11) Topical anesthetics (e.g., lidocaine patches) for focal tenderness.
Purpose: temporary numbness over a very tender area to enable exercise or sleep. Safety: follow patch-on/patch-off timing; avoid broken skin. Medscape
12) Acetaminophen-NSAID combination (staggered).
Purpose: multimodal analgesia—different mechanisms with additive pain relief so each dose can be smaller. Safety: respect acetaminophen daily limits and NSAID risks. FDA Access Data
13) COX-2 solution for acute flares (celecoxib oral solution).
Purpose: liquid celecoxib provides flexible dosing where capsules are difficult. Safety: same class warnings. FDA Access Data
14) Antiemetics (e.g., ondansetron) post-op.
Purpose: reduce nausea from anesthesia/opioids so early mobilization and oral meds are tolerated. Safety: QT caution and drug interactions per label. Medscape
15) Stool softeners (e.g., docusate) if opioids are used.
Purpose: prevent constipation during brief opioid courses after surgery; improves comfort and activity. Follow label dosing. Medscape
16) Enoxaparin or mechanical DVT prophylaxis per surgical risk.
Purpose: reduce clot risk after lower-limb surgery when immobility is expected. Use only when risk justifies it; follow label and local protocol. Lippincott Journals
17) Gabapentin for neuropathic features (selected cases).
Purpose: help burning/tingling pain if a mass has irritated a nerve and symptoms persist after decompression. Safety: sedation and dose adjustment in renal impairment. Medscape
18) Short steroid taper (rare, carefully selected).
Purpose: tamp down exuberant synovitis around a joint before a key function event or while awaiting surgery—only with specialist oversight. Risks often outweigh benefits; not routine. Medscape
19) Local corticosteroid injection for secondary synovitis (case-by-case).
Purpose: reduce reactive synovial inflammation when surgery is not yet planned; image-guided to avoid neurovascular structures. Limited and temporary. OrthoInfo
20) Post-op thromboprophylaxis/analgesia protocols (bundled).
Purpose: standardized, evidence-guided plans (acetaminophen + NSAID ± short opioid) shorten stays, control pain, and lower complications in benign bone tumor surgery. Use protocolized dosing from labels and surgical society guidance. Lippincott Journals
Dietary molecular supplements
1) Calcium (diet first; supplements only if intake is low).
Dose: usually 1,000–1,200 mg/day total from food + supplements (do not exceed upper limits). Function: bone mineral building block. Mechanism: adequate calcium helps maintain bone strength while joints are under rehabilitation and post-op healing. Over-supplementation can harm; food sources are preferred. Office of Dietary Supplements
2) Vitamin D3.
Dose: individualized to reach sufficient 25(OH)D levels; common 600–1,000 IU/day maintenance (check labs). Function: helps intestines absorb calcium and supports muscle/nerve function. Mechanism: raises serum 25(OH)D to support bone mineralization; toxicity if megadoses are used. Office of Dietary Supplements+2Office of Dietary Supplements+2
3) Vitamin K (K1/K2).
Dose: from diet or targeted supplement per clinician advice. Function: activates osteocalcin (a protein that binds calcium in bone). Mechanism: carboxylation pathways in osteoblasts; may reduce fractures in some studies though evidence quality varies. Avoid high-dose K with warfarin. PMC+2PMC+2
4) Magnesium.
Dose: usually 300–420 mg/day from diet/supplement (avoid excess with kidney disease). Function: cofactor in vitamin D activation and bone matrix formation. Mechanism: supports parathyroid hormone and enzymatic steps in mineralization. (General ODS guidance applies.) Office of Dietary Supplements
5) Collagen peptides.
Dose: 5–10 g/day commonly used in trials. Function: may reduce joint pain and support collagen turnover during rehab. Mechanism: bioactive peptides may stimulate chondrocyte/osteoblast activity and improve joint comfort in mild OA—use as adjunct only. PMC+2ScienceDirect+2
6) Glucosamine sulfate.
Dose: often 1,500 mg/day. Function: symptomatic relief in some with degenerative joint pain that can coexist with CTOC; evidence mixed. Mechanism: substrate for glycosaminoglycan synthesis in cartilage; modest pain benefits in some trials. Cochrane+1
7) Chondroitin sulfate.
Dose: 800–1,200 mg/day. Function: small pain improvement in OA; sometimes paired with glucosamine. Mechanism: contributes to cartilage matrix hydration; clinical benefits small to modest. Cochrane
8) Omega-3 fatty acids (EPA/DHA).
Dose: ~1 g/day combined EPA/DHA from diet/supplement (check bleeding risks). Function: anti-inflammatory support. Mechanism: resolves pro-inflammatory eicosanoids that can amplify joint pain flares. (General evidence from musculoskeletal pain populations.) Office of Dietary Supplements
9) Boron (low-dose).
Dose: only under guidance (commonly ~1–3 mg/day in some bone-health blends). Function: trace element involved in bone metabolism; human data limited—adjunct at most. Mechanism: may influence vitamin D and estrogen pathways. Office of Dietary Supplements
10) Silicon (as orthosilicic acid).
Dose: low-dose in some bone formulas. Function: collagen cross-linking support; limited clinical data. Mechanism: cofactor roles in connective tissue matrix formation; use only as adjunct. Office of Dietary Supplements
Immunity-booster / regenerative / stem-cell drugs
(There are no approved regenerative or stem-cell drugs for CTOC. Below are research-adjacent or supportive categories sometimes discussed; use only under specialist care, and do not expect disease modification.)
1) Vitamin D (as a hormone-like nutrient).
Dose: individualized to achieve sufficiency. Function: supports musculoskeletal and immune function; correct deficiency before/after surgery. Mechanism: nuclear receptor signaling in bone/muscle cells. Office of Dietary Supplements
2) Vitamin K2 (menaquinones).
Dose: per clinician guidance. Function: bone-matrix protein activation; theoretical synergy with vitamin D. Mechanism: γ-carboxylation of osteocalcin. Evidence is mixed; not disease-modifying. PMC
3) Collagen peptide supplementation.
Dose: 5–10 g/day. Function: supports collagen turnover during rehab; symptomatic aid. Mechanism: bioactive peptides may stimulate extracellular matrix synthesis; not curative. PMC
4) PRP (platelet-rich plasma) – procedure, not a drug.
Dose: n/a. Function: sometimes used for tendon/soft-tissue pain near bony prominences; evidence variable, not CTOC-specific. Mechanism: growth factors from platelets modulate healing cascades. Use only in trials/specialist settings. Medscape
5) Bisphosphonates (rarely, off-label for pain in benign bone conditions).
Dose: specialist-directed only. Function: attempt to reduce bone turnover–related pain in select benign bone pain syndromes; not standard for CTOC. Mechanism: osteoclast inhibition. Risks (e.g., ONJ) limit use. MDPI
6) Experimental small-molecule pathways (e.g., RAR-γ agonists under study for osteochondromas).
Dose: research only. Function: potential to affect cartilage cap biology; not approved. Mechanism: retinoid signaling may inhibit ectopic cartilage growth—currently investigational. PubMed
Surgeries (procedures & why done)
1) Marginal excision of symptomatic osteochondroma.
Procedure: open or minimally invasive removal of the bony outgrowth flush with native bone; protect neurovascular structures; send tissue to pathology. Why: pain, nerve/tendon compression, blockage of motion, or deformity. Recurrence is low (<2%) with complete resection. Medscape+2PubMed+2
2) Arthroscopic removal of loose bodies with synovectomy (if secondary synovial chondromatosis develops).
Procedure: keyhole portals to remove cartilaginous/bony loose bodies and partially or fully remove inflamed synovium. Why: mechanical catching, swelling, restricted motion unresponsive to therapy. OrthoInfo+1
3) Corrective osteotomy (selected deformities).
Procedure: cut and realign bone to restore joint axis or foot alignment when repeated impingement or progressive deformity occurs. Why: improve function, relieve abnormal contact pressures, and reduce recurrent symptoms. Lippincott Journals
4) Tendon/nerve decompression or tenolysis.
Procedure: free tendons or nerves entrapped by a nearby exostosis; often combined with exostosis excision. Why: pain, weakness, paresthesia, or triggering from mechanical irritation. Hospital for Special Surgery
5) Arthrodesis (fusion) for end-stage, unstable, or painful joints after multiple procedures.
Procedure: remove cartilage and fix the joint to fuse in a functional position (more common in tarsal joints than carpal). Why: salvage option when pain and instability persist despite other care. Lippincott Journals
Preventions
(You cannot prevent a congenital/rare dysplasia, but you can prevent flares and complications.)
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Early specialist review when a new lump grows or pain changes suddenly—detects complications and guides timing of surgery. NCBI
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Footwear with cushioning/rocker-soles to reduce impact on tarsal joints. Hospital for Special Surgery
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Warm-up and gradual loading before activity to avoid sharp impingement pain. Physiopedia
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Maintain ROM and strength so soft tissues glide smoothly around bony contours. Physiopedia
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Avoid prolonged repetitive extremes of motion (deep squats on toes; forceful sustained wrist bend). Medscape
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Protect against falls/sprains with balance work and home safety. Hospital for Special Surgery
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Plan post-op rehab to prevent stiffness and deconditioning after excision. WJPMR
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Monitor for nerve symptoms (numbness, tingling, weakness) that suggest compression. Hospital for Special Surgery
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Use NSAIDs carefully (lowest effective dose, shortest duration) to prevent GI/CV harms. FDA Access Data+1
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Keep vitamin D and calcium adequate to support bone health during rehab; avoid megadoses. Office of Dietary Supplements+1
When to see doctors (red flags)
See your orthopedic/hand/foot specialist urgently if you notice rapid growth of a mass, night pain that wakes you, new numbness/tingling or weakness, locking/catching, fever with joint swelling, or sudden big limits in motion—these signs can indicate a complication like nerve compression, reactive synovitis/loose bodies, fracture through a stalk, or—rarely—features that warrant checking the cartilage cap for malignant change. Routine follow-up is also smart after surgery to monitor healing and to keep ROM and strength on track. NCBI+1
What to eat and what to avoid
Eat: calcium-rich foods (dairy or fortified alternatives), oily fish and egg yolks for vitamin D (plus safe sun or supplements as advised), leafy greens for vitamin K, legumes/nuts for magnesium, lean proteins to support tissue repair, colorful fruits/vegetables for antioxidants, and adequate hydration. These support bone and soft-tissue recovery during therapy and after surgery. Office of Dietary Supplements+1
Avoid/limit: excess alcohol, smoking, high-sugar ultra-processed foods that can worsen systemic inflammation, and megadoses of supplements (including vitamin D or calcium) without lab-guided supervision because too much can harm the heart, kidneys, or soft tissues. Use NSAIDs sparingly and within label limits to avoid GI/CV risks. Office of Dietary Supplements+1
FAQs
1) Is Maroteaux-Le-Merrer-Bensahel syndrome the same as carpotarsal osteochondromatosis?
Yes—this is a synonym for the same very rare bone dysplasia. Orpha+1
2) Which bones are usually involved?
Mostly the small wrist and ankle/foot bones, though patterns vary by person. Orpha
3) Is it cancer?
No. The growths are benign osteochondromas. Surgery is considered for symptoms or complications. Medscape
4) Can the growths turn into cancer?
Malignant transformation in solitary osteochondromas is very rare (≈<1%); recurrence after complete excision is also low (~1.8–2%). Surveillance focuses on new/rapid growth or persistent pain. NCBI+2Medscape+2
5) How is CTOC diagnosed?
By clinical exam and imaging (X-ray/MRI) showing characteristic exostoses in carpal/tarsal bones; genetics may be considered in familial cases. Genetic Rare Diseases Center
6) Are there approved medicines that shrink the growths?
No. Medicines treat pain/inflammation only. Excision is the treatment for symptomatic lesions. Medscape
7) What decides if surgery is needed?
Pain that limits life, motion block, nerve/tendon compression, or deformity on imaging—balanced against surgical risks. Lippincott Journals
8) What is recovery like after excision?
Most people follow a phased plan: swelling control, gentle ROM, strengthening, then return to activities. Outcomes are generally good with low recurrence when the lesion is fully removed. WJPMR+1
9) Do children need special care?
Yes—surgeons plan incisions and timing to protect growth plates and function, with rehab tailored to age and development. Medscape
10) Will braces or orthotics cure it?
No, but they can reduce symptoms and improve walking/hand tasks while you build strength and decide about surgery. Hospital for Special Surgery
11) Can diet help?
Diet cannot remove growths but supports bone and soft-tissue health. Ensure adequate calcium and vitamin D and a generally anti-inflammatory pattern. Avoid megadoses. Office of Dietary Supplements+1
12) Is CTOC the same as “multiple hereditary exostoses (MHE)”?
No. Both have osteochondromas, but MHE is a different genetic disorder with multiple long-bone exostoses; CTOC centers on carpal/tarsal bones and has its own clinical pattern. Management principles overlap for symptomatic lesions. Medscape
13) Could I develop secondary synovial chondromatosis?
Rarely, chronic joint irritation can lead to loose cartilage bodies; arthroscopic removal and synovectomy are effective when this occurs. OrthoInfo
14) How often should I check in with my care team?
At baseline, then as symptoms change; after surgery, follow your surgeon’s schedule until strength and ROM normalize. Imaging is repeated if pain or size changes. American Journal of Roentgenology
15) Where can I learn more or find support?
National rare-disease resources can help you locate specialists, patient communities, and practical guidance for daily living. Genetic Rare Diseases Center
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: November 12, 2025.
