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Pathogenic variants in TINF2 and TERT are responsible for 11% to 24% and 6% to 10% of cases, respectively.[186,193,194,205,206] Rothmund-Thomson syndrome Rothmund-Thomson syndrome, also known as poikiloderma congenitale, is a heritable disorder characterized by chromosomal instability
The discoloration is due to extravasation of blood coupled with vascular proliferation
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