Familial Doughnut Lesions of the Skull

Familial doughnut lesions of the skull are round, ring-like spots in the skull bones that look like a “doughnut” on X-rays. Many affected people also have weak bones that break easily. Doctors now group this as a rare, inherited bone fragility disorder. Most families show autosomal-dominant inheritance (one changed gene copy is enough). The skull changes can appear in childhood or later. Bone mineral density is often low, so fractures happen with minor injuries. In severe forms, there can also be short height, spinal shape changes, and thicker skull bone in places. NCBI+1

Familial doughnut lesions of the skull are rare, ring-shaped (“doughnut-like”) spots in the calvarial bones that look sclerotic at the rim with a central lucency on X-ray or CT. Today, most cases sit within a genetic bone fragility spectrum caused by pathogenic variants in SGMS2 (sphingomyelin synthase-2); affected people often have low bone mineral density and fractures beginning in childhood, and in severe forms may also show spondylometaphyseal dysplasia and very short stature. Older literature called the skull findings a benign hereditary dysplasia; modern studies link them to primary osteoporosis mechanisms in SGMS2. Synonyms: calvarial doughnut lesions-bone fragility syndrome, CDL; familial “doughnut” lesions of the skull. Radiopaedia+3JCI Insight+3PubMed+3

Scientists have found the main cause in the SGMS2 gene, which encodes sphingomyelin synthase 2—an enzyme important for membranes in bone cells. Faulty SGMS2 disrupts normal bone building and bone breakdown and leads to fragile bone plus the characteristic skull “doughnut” spots. A severe end of the spectrum can include spondylometaphyseal dysplasia (spine and long-bone changes) from the same gene. JCI Insight+1

A few families may show a similar picture from a different gene (IFITM5), usually labeled as a phenotype overlapping with osteogenesis imperfecta; a 2021 case report described an IFITM5 p.Asn48Ser variant with the “doughnut lesion” picture. PMC

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Other names

Doctors and databases also use these names for the same clinicogenetic spectrum:

• Calvarial doughnut lesions with bone fragility (CDL)

• Familial doughnut lesions of the skull

• Calvarial doughnut lesions–bone fragility syndrome

• SGMS2-related bone fragility spectrum disorder (covers mild to severe cases)
  These variants of the name all refer to the same rare entity described above. Global Genes+1

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Types

Because this disorder ranges from mild to severe, doctors often talk about types along a spectrum rather than strict subtypes:

1. Classic CDL (SGMS2-related)

   • Skull doughnut lesions plus low bone density and childhood fractures. NCBI

2. CDL with spondylometaphyseal dysplasia (severe form)

   • Neonatal or infant fractures, spinal flattening (platyspondyly), long-bone deformities, short stature, and marked skull changes, all from SGMS2 variants. JCI Insight

3. IFITM5-associated CDL-like phenotype (very rare)

   • Similar skull lesions with bone fragility reported in a single family with IFITM5 p.Asn48Ser. PMC

4. Sporadic/isolated calvarial doughnut lesion

   • A single or few skull lesions without clear family history or generalized bone fragility; historically described before genes were known. Radiopaedia+1

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Causes

Important note: In this condition, the true cause is genetic. Everything else here either (a) describes the different genetic changes and mechanisms that cause the disease, or (b) explains factors that can worsen bone fragility in someone who already has the disease.

Primary genetic causes and mechanisms

1. Pathogenic variants in SGMS2 (most families). These changes reduce SMS2 enzyme function in bone cells. JCI Insight

2. SGMS2 nonsense mutation p.Arg50* (one common familial change). Creates a truncated, non-functional enzyme. Wikipedia

3. SGMS2 missense variants p.Leu62Arg and p.Ile64Ser. These alter enzyme structure and impair activity. JCI Insight

4. Loss of sphingomyelin synthesis at the cell membrane. This disrupts osteoblast and osteoclast signaling that maintains bone strength. JCI Insight

5. Dominant inheritance. One altered copy is enough to cause disease in each generation. NCBI

6. De novo SGMS2 variants. A new change can arise in a child with unaffected parents. (General mechanism in monogenic disorders; noted across CDL reports.) JCI Insight

7. IFITM5 p.Asn48Ser variant producing a CDL-like phenotype in one reported family. PMC

8. Endoplasmic reticulum stress from misfolded SGMS2 protein (proposed mechanism in missense variants) that harms bone-forming cells. JCI Insight

9. Altered osteoclast activity on bone biopsy in some families, increasing bone turnover and fragility. Wikipedia

10. Cranial bone remodeling imbalance leading to ring-like sclerotic rims in the skull vault bones. Radiopaedia

Factors that can worsen bone fragility if you already have CDL

11. Low vitamin D status lowers mineralization and can raise fracture risk in any fragility disorder; clinicians correct it in CDL patients. (Standard osteoporosis care principle cited in CDL reviews.) Frontiers

12. Low calcium intake reduces bone mineralization reserve. (General bone health principle applied in CDL management.) Frontiers

13. Long-term glucocorticoid exposure accelerates bone loss and raises fracture risk. (General fragility evidence relevant to CDL care.) Frontiers

14. Physical inactivity/immobilization reduces bone loading and strength. (General principle used in counseling CDL families.) Frontiers

15. Smoking harms bone health and fracture healing. (General risk factor addressed in monogenic osteoporosis.) Frontiers

16. Excess alcohol weakens bone and raises falls. (General risk factor in fragile bone conditions.) Frontiers

17. Concurrent endocrine disorders (e.g., hyperthyroidism) can worsen bone turnover if not treated. (General modifier in bone fragility.) Frontiers

18. Malabsorption states (e.g., celiac disease) can produce low calcium/vitamin D availability. (General modifier relevant to care.) Frontiers

19. Recurrent falls from poor vision, neuropathy, or hazards increase fracture events in fragile bones. (General prevention target.) Frontiers

20. Family transmission without awareness (autosomal-dominant pattern) causes new cases each generation unless recognized and counseled. NCBI

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Symptoms and signs

1. Skull lumps or bumps. These are the “doughnut” lesions you can sometimes feel as firm rings on the scalp. Imaging shows ring-like sclerotic rims. Radiopaedia

2. Frequent fractures in childhood. Small falls can cause broken arms, legs, or spine compression fractures. NCBI

3. Low bone mineral density (DXA). The skeleton holds less mineral than expected for age and sex. NCBI

4. Back pain. Vertebral compression or muscle strain around fragile bones can cause pain. NCBI

5. Short stature in severe cases. Children with the severe form may grow less due to early fractures and bone changes. JCI Insight

6. Spinal shape changes (platyspondyly, scoliosis). Flattened vertebral bodies and curves may be seen on X-ray. Wiley Online Library

7. Cranial sclerosis in severe disease. Some skull areas look thicker or denser on scans. NCBI

8. Headache or scalp tenderness. Local pressure over skull lesions may be uncomfortable at times. (Reported symptom in case series and reviews.) Wiley Online Library

9. Elevated alkaline phosphatase. A lab sign of active bone turnover that some patients show. Global Genes

10. Dental issues (caries, enamel hypoplasia). Teeth may be more fragile in some families. Wikipedia

11. Hearing or facial nerve symptoms (in a subset). Rare neurological features have been reported in SGMS2-related disease. PubMed

12. Bone pain with activity. Fragile bone and micro-fractures can ache, especially after minor trauma. NCBI

13. Glaucoma (rare association). Reported in one large family with SGMS2 mutation. IOVS

14. Delayed motor milestones in severe infant-onset cases. Pain and fractures slow normal activities. JCI Insight

15. Normal appearance between events in mild cases. Some people only have skull lesions and sporadic fractures. MalaCards

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Diagnostic tests

A) Physical-exam–based

1. Head and scalp exam. Doctor gently feels for ring-like firm bumps that match the lesion sites on imaging. Radiopaedia

2. Height and growth chart review. Helps spot short stature in severe forms. JCI Insight

3. Spine inspection and forward bend test. Looks for curvature and tenderness suggesting vertebral fractures. Wiley Online Library

4. Gait and limb alignment check. Finds bowing, limb length differences, or pain triggered by walking. NCBI

B) “Manual” bedside assessments

5. Point tenderness mapping. Pressing gently along bones and spine localizes painful fracture sites. NCBI

6. Cranial nerve screening. Facial movements, hearing, and eye movements tested if neurological symptoms are present. PubMed

7. Functional tests (sit-to-stand, balance). These flag fall risk in fragile bone disorders. Frontiers

8. Dental exam. Checks enamel defects and caries that co-occur in some families. Wikipedia

C) Laboratory and pathology

9. Serum alkaline phosphatase (ALP). Often increased, showing active bone remodeling. Global Genes

10. Calcium, phosphate, PTH, and 25-OH vitamin D. Rules out treatable contributors to fragility and prepares for therapy. Frontiers

11. Bone turnover markers (e.g., P1NP, CTX) to gauge remodeling activity at baseline and follow-up. Frontiers

12. Genetic testing panel or exome. Confirms SGMS2 variant and, rarely, IFITM5; establishes inheritance and guides family testing. NCBI+1

13. Bone biopsy (selected cases). Historic reports showed thin cortex, active osteoclasts, and trabecular changes; now used rarely when diagnosis remains unclear. Wikipedia

D) Electrodiagnostic / physiologic

14. Pure-tone audiometry. Checks for hearing loss when patients report symptoms. PubMed

15. Visual field and pressure testing. Screens for glaucoma in families where it has been reported. IOVS

16. Nerve testing (selected). If facial weakness or neuropathy is suspected, clinicians can add studies to document nerve function. PubMed

E) Imaging

17. Skull X-rays. The key test that shows ring-like (“doughnut”) defects rimmed by sclerosis. Radiopaedia

18. CT or MRI of the skull (when needed). CT shows bone edges clearly; MRI helps if soft-tissue questions arise. Wikipedia

19. DXA scan of hip/spine. Measures bone mineral density and tracks treatment. NCBI

20. Full skeletal survey/spine films. Looks for vertebral compression and other fractures often seen in CDL. Wiley Online Library

Non-pharmacological treatments (therapies & others)

1. Activity modification with fall-proofing—Use non-slip footwear, brighter lighting, railings, and remove clutter. Purpose: lower fracture risk during daily life. Mechanism: fewer slips/trips cuts impact loads on fragile bone. BioMed Central

2. Progressive strength training—2–3 days/week supervised resistance for legs, back, hips. Purpose: stronger muscles protect bone and reduce falls. Mechanism: muscle forces stimulate osteoblasts (mechanotransduction) and improve balance. BioMed Central

3. Weight-bearing impact (graded)—walking, stair climbing, gentle hops if safe. Purpose: maintain or increase BMD. Mechanism: repetitive skeletal loading triggers bone formation. BioMed Central

4. Spine-sparing body mechanics—hip-hinge, log-roll, avoid deep spinal flexion twists. Purpose: protect compressed vertebrae. Mechanism: reduces anterior vertebral stress. BioMed Central

5. Posture & extension exercises—thoracic extension and scapular work. Purpose: reduce kyphosis and pain. Mechanism: strengthens posterior chain, improving spinal alignment. BioMed Central

6. Balance training—tandem stance, single-leg stances with support. Purpose: prevent falls. Mechanism: enhances proprioception and neuromuscular control. BioMed Central

7. Back bracing (time-limited)—thoracolumbar bracing for painful vertebral fractures. Purpose: pain relief during healing. Mechanism: limits motion, decreases micro-movement at fracture sites. PubMed

8. Hip protectors (for high-risk)—padded garments during ambulation. Purpose: lower hip fracture risk. Mechanism: energy absorption spreads impact forces. BioMed Central

9. Occupational therapy home safety—task redesign (reachers, shower chair). Purpose: keep independence with less risk. Mechanism: reduces leverage/strain on fragile bones. BioMed Central

10. Nutritional optimization—adequate protein plus calcium and vitamin D intake. Purpose: support bone remodeling and muscle repair. Mechanism: substrates for matrix and muscle anabolism. Bone Health & Osteoporosis Foundation+1

11. Sunlight hygiene (safe UV)—brief, skin-type-appropriate sun exposure. Purpose: support vitamin D status. Mechanism: UVB triggers cutaneous cholecalciferol. Office of Dietary Supplements

12. Smoking cessation—stop tobacco use. Purpose: protect bone quality. Mechanism: smoking impairs osteoblasts and blood supply. BioMed Central

13. Limit alcohol—moderate to low intake. Purpose: decrease falls and bone loss. Mechanism: heavy intake harms bone cells and balance. BioMed Central

14. Safe lifting education—keep loads close; avoid sudden bending/twisting. Purpose: prevent vertebral re-injury. Mechanism: minimizes spinal flexion torque. PubMed

15. Cushioned seating & mattress adjustments—for acute vertebral pain. Purpose: comfort and sleep quality. Mechanism: offloads painful segments to allow healing. PubMed

16. Heat/ice as needed—short bouts for muscle spasm or acute pain. Purpose: symptomatic relief. Mechanism: modulates nociceptors and muscle tone. PubMed

17. Education on safe recreation—swap high-impact collision sports for swimming or cycling during healing phases. Purpose: maintain fitness safely. Mechanism: reduces traumatic loads. BioMed Central

18. Dental preventive care—fluoride, hygiene, caries prevention. Purpose: address CDL-associated dental vulnerability. Mechanism: strengthens enamel, reduces demineralization. MalaCards

19. Vision checks—treat glaucoma or refractive issues. Purpose: reduce fall risk and address rare association. Mechanism: better vision improves balance; glaucoma requires specialist care. IOVS

20. Genetic counseling for families—explain inheritance and testing options. Purpose: inform relatives, plan surveillance. Mechanism: autosomal dominant transmission risk clarified. RSNA Publications

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Drug treatments

There is no drug “approved for CDL,” but osteoporosis medicines are used to reduce fractures and raise BMD in this SGMS2-related fragility. Always individualize with a specialist.

1. Alendronate (FOSAMAX/BINOSTO; oral bisphosphonate)—weekly dosing (e.g., 70 mg) inhibits osteoclasts to reduce vertebral and non-vertebral fractures in osteoporosis. Take on an empty stomach with water, stay upright 30 min. Side effects: esophagitis, musculoskeletal pain; rare osteonecrosis of the jaw/atypical femur fracture with long-term use. FDA Access Data+1

2. Risedronate (ACTONEL; oral bisphosphonate)—reduces vertebral fractures; similar precautions as alendronate. Side effects: GI irritation, rare ONJ/AFF. PMC

3. Ibandronate (BONIVA; oral/IV bisphosphonate)—effective for vertebral fracture risk; IV avoids GI issues; monitor renal function. BioMed Central

4. Zoledronic acid (RECLAST/ZOMETA; IV bisphosphonate)—yearly infusion (osteoporosis dosing) increases BMD and lowers fractures; acute-phase flu-like reaction possible; check kidney function and calcium/Vit-D status. FDA Access Data+1

5. Pamidronate (AREDIA; IV bisphosphonate)—used in pediatric fragility disorders; cyclic infusions improve BMD; monitor electrolytes and renal function. Helsinki University Research Archive

6. Denosumab (PROLIA; RANKL antibody, SC q6mo)—reduces vertebral, hip, and non-vertebral fractures in high-risk adults. Correct hypocalcemia first; warn about rebound bone loss if doses are missed or stopped without sequential therapy; monitor for rare ONJ/AFF. FDA Access Data+1

7. Teriparatide (FORTEO; PTH-1-34, daily SC)—an anabolic that stimulates osteoblasts; used for very high fracture risk or failure of antiresorptives. Lifetime duration limits apply; can cause hypercalcemia, nausea. FDA Access Data+1

8. Abaloparatide (TYMLOS; PTHrP analog, daily SC)—another anabolic improving vertebral and non-vertebral fractures in postmenopausal women; similar duration limits and monitoring as teriparatide. FDA Access Data+1

9. Romosozumab (EVENITY; sclerostin antibody, monthly)—anabolic then antiresorptive effect; increases BMD rapidly; boxed warning for possible cardiovascular events; usually followed by antiresorptive to maintain gains. FDA Access Data+1

10. Calcitonin-salmon (intranasal/SC)—modest vertebral pain relief after acute fractures; limited BMD benefit; nausea, rhinitis possible. (Label available on FDA site; not first-line for long-term fracture prevention.) BioMed Central

11. Cholecalciferol (Vitamin D3; Rx/OTC)—ensures calcium absorption and prevents osteomalacia; typical supplementation individualized to labs and risk. Excess can cause hypercalcemia. Office of Dietary Supplements

12. Calcium (carbonate/citrate; Rx/OTC)—foundation therapy to reach daily targets (1000–1200 mg/day from diet + supplements as needed). Avoid excessive dosing; may cause constipation. Office of Dietary Supplements

13. Ibandronate IV (quarterly)—for those intolerant of oral bisphosphonates; monitor renal function and calcium. BioMed Central

14. Sequential therapy (e.g., teriparatide → denosumab or bisphosphonate)—helps “lock in” anabolic gains; plan exit strategy to avoid rebound. BioMed Central

15. Switching within class when adverse effects arise—e.g., alendronate to risedronate; shared antiresorptive mechanism but different tolerability. BioMed Central

16. Pediatric bisphosphonate protocols—intermittent IV pamidronate has precedent in genetic bone fragility; specialist-led. Helsinki University Research Archive

17. Denosumab in severe, treatment-refractory cases—case experience in SGMS2 families alongside other agents. PMC

18. Teriparatide “rescue” after fracture clustering—evidence in high-risk osteoporosis; may apply in SGMS2 fragility with expert oversight. BioMed Central

19. Zoledronic acid consolidation after anabolics—commonly used to maintain BMD gains following teriparatide/abaloparatide. FDA Access Data

20. Medication review to avoid bone-harming drugs—e.g., long-term glucocorticoids raise fracture risk; deprescribe when possible. BioMed Central

Important context: A French-Canadian CDL case received pamidronate in childhood, later alendronate, then teriparatide, denosumab, and risedronate as an adult—illustrating the real-world mix of antiresorptive and anabolic strategies in SGMS2-related fragility. PMC

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Dietary molecular supplements

1. Vitamin D3—Typical adult maintenance ranges from 800–2000 IU/day, adjusted to 25-OH-D levels. Function: helps the gut absorb calcium; Mechanism: enables mineralization and bone remodeling. Office of Dietary Supplements

2. Calcium—Meet age-specific totals (usually 1000–1200 mg/day from diet + supplements). Function: mineral for bone matrix; Mechanism: supplies hydroxyapatite and supports signaling. Office of Dietary Supplements

3. Magnesium—Aim for recommended intakes (~320–420 mg/day adults, diet first). Function: cofactor for vitamin D metabolism and osteoblast activity; Mechanism: modulates PTH/vitamin D axis and bone formation. Office of Dietary Supplements

4. Vitamin K2 (MK-7)—Some studies suggest 180 µg/day supports bone strength; results are mixed overall. Function: carboxylates osteocalcin so it binds calcium; Mechanism: improves matrix quality. Office of Dietary Supplements+1

5. Protein adequacy—~1.0–1.2 g/kg/day in older adults unless contraindicated. Function: supports muscle and bone matrix; Mechanism: provides amino acids for collagen. BioMed Central

6. Collagen peptides—Adjunct for bone and joint comfort. Function: collagen building blocks; Mechanism: may influence bone turnover and matrix quality. openorthopaedicsjournal.com

7. Silicon (orthosilicic acid)—Trace mineral involved in collagen cross-linking; use food sources or low-dose supplements. Mechanism: supports matrix mineralization. openorthopaedicsjournal.com

8. Boron—Trace element affecting bone metabolism; usually adequate in diet; avoid high doses. Mechanism: influences steroid hormones/vitamin D utilization. openorthopaedicsjournal.com

9. Omega-3 fatty acids—Anti-inflammatory effects may support bone turnover balance; prioritize diet (fatty fish) first. openorthopaedicsjournal.com

10. Zinc—Cofactor for collagen and alkaline phosphatase; ensure dietary adequacy. Mechanism: supports osteoblast function. openorthopaedicsjournal.com

Always tailor doses to labs, diet, kidney function, and medications; avoid excess calcium or vitamin D. Office of Dietary Supplements+1

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Immunity/regen/stem-cell”-type drugs

There are no FDA-approved stem-cell or “immune-booster” drugs for CDL. However, several bone-anabolic or osteo-regenerative agents help restore bone strength in high-risk osteoporosis and have been used in SGMS2 fragility, under specialist care:

1. Teriparatide (PTH-1-34)—daily SC anabolic that builds new bone, often used for 18–24 months then followed by an antiresorptive to preserve gains. FDA Access Data

2. Abaloparatide (PTHrP analog)—daily SC with similar anabolic effect and time limits; follow with antiresorptive therapy. FDA Access Data

3. Romosozumab (sclerostin antibody)—monthly injections for 12 months; rapid BMD rise; cardiovascular risk warning necessitates careful selection and monitoring; typically sequence to bisphosphonate afterward. FDA Access Data

4. Denosumab (RANKL inhibitor)—potent antiresorptive that indirectly allows bone formation to catch up; plan a transition strategy if stopping to avoid rebound. FDA Access Data

5. Zoledronic acid (IV)—antiresorptive consolidation after an anabolic course to “lock in” BMD gains. FDA Access Data

6. Pamidronate (IV, pediatric protocols)—improves pediatric BMD and reduces fracture burden in genetic fragility disorders under expert oversight. Helsinki University Research Archive

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Surgeries (what they are and why they’re done)

1. Vertebral augmentation (vertebroplasty/kyphoplasty)—for select painful osteoporotic compression fractures refractory to conservative care, to stabilize the vertebra and reduce pain. Not disease-specific, but used in fragility contexts. PubMed

2. Open reduction and internal fixation (ORIF) of fractures—standard trauma surgery when long-bone or hip fractures occur, restoring alignment and mobility. PubMed

3. Spinal decompression/laminoplasty (selected severe stenosis)—if deformity/stenosis causes neurologic compromise; individualized. jss.amegroups.org

4. Targeted skull lesion biopsy—only if imaging is atypical or malignancy/infection cannot be excluded; most classic lesions need no surgery. Radiopaedia

5. Cranioplasty (rare)—for symptomatic skull contour defects or after necessary resection/biopsy; mainly cosmetic/structural. PubMed

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Preventions

1. Maintain adequate calcium and vitamin D through diet and safe sun/supplements. Office of Dietary Supplements+1

2. Do regular weight-bearing plus strength and balance training. BioMed Central

3. Fall-proof home and workplace. BioMed Central

4. Stop smoking and limit alcohol. BioMed Central

5. Protect the spine during lifting/housework with hip-hinge techniques. PubMed

6. Keep dental care up to date. MalaCards

7. Get periodic eye checks (especially with family glaucoma history). IOVS

8. Review medications that harm bone (e.g., chronic glucocorticoids) and deprescribe if possible. BioMed Central

9. Discuss genetic counseling for family planning and cascade testing. RSNA Publications

10. Adhere to therapy plans (including sequential/maintenance steps). FDA Access Data

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When to see doctors

Seek medical care early if you have: (1) any fracture from minimal trauma; (2) persistent back pain or height loss; (3) new skull lumps or headaches; (4) vision changes; (5) facial weakness; (6) repeated falls; (7) difficulty tolerating bone medicines; (8) questions about child/family testing; or (9) pregnancy planning with a family history. Early evaluation with imaging, DXA, and SGMS2 genetic testing streamlines care, prevents avoidable fractures, and guides family counseling. PMC+1

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Foods to eat and to limit/avoid

Eat more: dairy/yogurt/cheese (calcium), small fish with bones (sardines), leafy greens, calcium-set tofu, beans/lentils, almonds, eggs, mushrooms (vitamin D when UV-exposed), fortified milks, citrus/berries (vitamin C for collagen), and protein-rich meals. These support bone matrix and muscle strength. Bone Health & Osteoporosis Foundation+1

Limit/avoid: heavy alcohol, smoking, very high salt (calciuria), excessive caffeine without milk, sugar-sweetened sodas (swap for dairy/fortified alternatives), crash diets, chronic very low-protein eating, unbalanced megadoses of calcium or vitamin D, and any unregulated “bone cures.” Balance and adequacy matter more than extremes. Bone Health & Osteoporosis Foundation+1

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Frequently asked questions

1) Are skull doughnut lesions cancer?
No. Classic CDL lesions are benign skeletal dysplasia findings; the concern is systemic bone fragility, not malignancy. Imaging and genetics support the diagnosis. Radiopaedia+1

2) Is CDL inherited?
Yes—typically autosomal dominant; a parent with a pathogenic SGMS2 variant has a 50% chance of passing it to a child. RSNA Publications

3) What gene is most often involved?
SGMS2. It regulates sphingomyelin synthesis important for bone mineralization; variants impair bone quality. JCI Insight

4) Can IFITM5 cause a similar picture?
Rarely, a single family with an IFITM5 variant was reported. Most CDL families are SGMS2-positive. Wikipedia

5) How are lesions found?
Usually on skull X-rays/CT for other reasons or family screening; ring-like, sclerotic-rim lesions are typical. Radiopaedia

6) Do lesions need surgery?
No, unless imaging is atypical or there’s another reason (e.g., biopsy for uncertainty). Management focuses on bone fragility. Radiopaedia

7) What raises fracture risk?
Low BMD from SGMS2-related mineralization defects and falls; vertebral compression is common. JCI Insight

8) What treatments help most?
Standard osteoporosis regimens—antiresorptives (bisphosphonates, denosumab) and anabolics (teriparatide, abaloparatide, romosozumab)—chosen to your risk and sequence. FDA Access Data+3FDA Access Data+3FDA Access Data+3

9) Are these drugs “approved for CDL”?
No. They’re approved for osteoporosis and used off-label to manage the fragility in CDL with specialist oversight. FDA Access Data

10) How long will I take medicines?
Plans often use time-limited anabolics followed by longer antiresorptive maintenance; duration depends on response and risk. FDA Access Data+1

11) Can kids be treated?
Yes—pediatric centers may use IV bisphosphonate protocols (e.g., pamidronate) in genetic fragility disorders, individualized to growth and labs. Helsinki University Research Archive

12) What lifestyle changes matter most?
Strength/balance training, fall-proofing, adequate calcium/vitamin D/protein, and avoiding tobacco/excess alcohol. BioMed Central

13) Will the skull lesions disappear?
They’re usually stable features; the goal is preventing fractures and maintaining function. Radiopaedia

14) Should my relatives get tested?
In autosomal dominant families, offer genetic counseling and cascade testing to at-risk first-degree relatives. RSNA Publications

15) Where can clinicians read more?
Key sources include JCI Insight 2019 (SGMS2 discovery), recent clinical series, Radiopaedia, Orphanet, and OMIM/ClinVar entries. NCBI+4JCI Insight+4PMC+4

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 08, 2025.

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