By Gary M. White, MD
Rothmund-Thomson syndrome (RTS) or poikiloderma congenitale is a rare geno-photodermatosis of autosomal recessive inheritance, featuring a DNA damage repair defect.
- Other manifestations include juvenile cataracts, short stature, hypogonadism (caused by both primary gonadal failure and pituitary abnormalities), mental retardation, small hands, and bone defects or cancer (e.g., osteosarcoma in 30% of patients).
- Mutations in the RECQL4 gene which encodes adenosine triphosphate–dependent DNA helicase Q4 cause about two-thirds of cases.
There is the onset of redness of the face at 2-6 months of age progressing to poikiloderma and extending to the extremities over time. Photosensitivity is typical. Sparse scalp hair and sparse or absent eyelashes/eyebrows may be seen.
The skin changes should be treated with strict sun avoidance. The pulsed dye laser has been reported successful at decreasing the redness. Genetic counseling should be done.
A 13-year-old boy presented with poikiloderma and absent eyebrows/eyelashes with onset at four months of age. He would develop facial erythema and edema after brief sun exposure, subsiding with hyperpigmentation in 2-3 days. Poikiloderma had developed over the years involving the face, extremities, and buttocks in that order [Indian Dermatol Online J. 2014 Oct-Dec; 5(4): 518–519
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