Syndrome
Rothmund-Thomson Syndrome
Synonyms: RTS, poikiloderma congenitale
SYSTEMIC GENETIC Syndrome
Quick Facts
Behaviour
Not set
Category
Syndrome
Synonyms
- RTS
- poikiloderma congenitale
Category
Syndrome
Gender
Female
Epidemiology
- Autosomal recessive genetic disorder
- RECQL4 helicase gene mutations
- Rare: 1 in 100,000
- Increased malignancy risk (osteosarcoma, others)
Clinical Features
- Poikiloderma (skin atrophy, pigmentation, telangiectasia)
- Photosensitivity
- Juvenile cataracts
- Growth retardation
- Skeletal abnormalities possible
Location
- Skeletal: growth defects
- Skin: characteristic poikiloderma
- Osteosarcoma risk (femur, tibia)
Imaging
- Skeletal survey: assess growth and development
- Baseline imaging for surveillance
- Monitor for osteosarcoma
Pathology
- Skeletal dysplasia if present
- Osteosarcoma if malignancy develops
Genetics
- RECQL4 helicase gene mutations
- Autosomal recessive inheritance
- DNA repair defect
Treatment
- Surveillance for osteosarcoma
- Sun protection and photoprotection
- Ophthalmology for cataracts
- Standard osteosarcoma treatment if malignancy develops
Prognosis
- Osteosarcoma risk 40-50% Higher than general population
- Otherwise Variable by complications
Key Points
- SYSTEMIC GENETIC Syndrome
- RECQL4 mutations cause DNA repair defect
- Increased osteosarcoma risk
- Poikiloderma and cataracts characteristic
Workup - Blood Tests
RECQL4 genetic testing
Workup - Local Imaging
- Baseline skeletal survey
- Annual imaging to screen for osteosarcoma
- Earlier if concerning symptoms
Workup - Biopsy
If osteosarcoma develops
Workup - Staging
Baseline Bone imaging
Workup - Other
- Genetics consultation
- Ophthalmology: cataract surveillance
- Dermatology: photoprotection counselling
Follow-up Summary
- 1
Annual skeletal imaging
- 2
Osteosarcoma surveillance (symptoms
pain, swelling)
- 3
Ophthalmology surveillance
- 4
Sun and photoprotection counselling
- 5
Annual clinical assessment
Medical disclaimer
The content on Sarcopedia is for educational and informational purposes only and does not constitute medical advice. It is not intended to be a substitute for professional medical diagnosis or treatment. Always consult with a qualified physician regarding any health concerns or before starting any new treatment. Reliance on any information provided on this site is solely at your own risk.