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

• Annual skeletal imaging
• Osteosarcoma surveillance (symptoms: pain, swelling)
• Ophthalmology surveillance
• Sun and photoprotection counselling
• Annual clinical assessment