A 5-year-old girl born to consanguineous parents has reticulate hypo- and hyperpigmentation with telangiectasia and atrophy on sun-exposed skin, sparse scalp hair, and short stature. She also has bilateral juvenile cataracts. Which malignancy is she at greatest lifetime risk for?

• A Osteosarcoma ✓
• B Basal cell carcinoma
• C Thyroid carcinoma
• D Acute myeloid leukaemia

Explanation

Rothmund-Thomson syndrome (poikiloderma congenitale) is an autosomal recessive disorder caused by RECQL4 helicase mutations. Poikiloderma begins in infancy on the face and spreads to buttocks and limbs, with cataracts, skeletal defects and short stature. Its most feared complication is osteosarcoma, which develops in up to a third of patients, along with squamous cell carcinoma in poikilodermatous skin. Basal cell carcinoma predominance defines nevoid basal cell carcinoma syndrome, not RTS.

Reference: Fitzpatrick's Dermatology, 9th ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

Written and medically reviewed by the StethoPrep medical team.