Rothmund-Thomson syndrome: Unpacking a rare diagnosis

Abstract

Rothmund-Thomson syndrome (RTS), also known as congenital poikiloderma, is a genodermatosis that appears in infancy and is characterized by poikilodermatous changes in the skin. It is a very rare and complex genetic disorder that can present with a wide range of symptoms and affect multiple systems in the body. The syndrome is inherited in an autosomal recessive manner. A 21-year-old female patient presented to our rheumatology outpatient clinic with swelling of the hands, sclerodactyly, and stiffness of the fingers with preliminary diagnosis of systemic sclerosis. She has had deformities in her feet and hands since the age of one year. Physical examination revealed poikiloderma and extremity deformities. She also had neutropenia in her bloodstream. She was diagnosed with Rothmund Thomson syndrome after genetic test results, prescribed colchicine and followed up regularly every three months. After two years of follow-up, she was diagnosed with ovarian cancer.