In infancy, they have severe failure to thrive … In terms of nailing the diagnosis, the immunoglobulin abnormalities and a test for chromosome instability are most useful … There are labs set up to run the chromosome tests at the National Institutes of Health (NIH) and Armed Forces Institute of Pathology … They can be bothered by the facial erythema … I generally give families the names of cosmetic coverups and send them to our equivalent of Bloomingdale’s … Photoprotect with sunscreens, hats, frogskin clothing. ML

Poikilodermatous changes are not necessarily confined to the sun-exposed areas … One patient I followed had striking involvement of the buttocks, another over the vulva … We had one child with such severe bowing of her distal tibias that the radiologist initially called and asked if the patient was wheelchair-bound … She had required multiple osteotomies to keep her mobile … Both of the patients referred to above have died from osteosarcoma. It is imperative to follow the bone changes for such degeneration. Malignant risks appear particularly marked in patients with documented RECQL4 mutations … Have also seen many adults with hyperkeratosis involving palms/soles, which can be marked and clinically significant … Half the children have subtle learning disabilities … All the patients I follow have similar facies … Baseline ophthalmologist examination and then yearly… I counsel about photoprotection. ML