Rothmund-Thomson Syndrome Type 2 in an African American/Puerto Rican Child Demonstrates Diagnostic Challenges in Diverse Population.

Abstract excerpt

Rothumnd-Thomson syndrome (RTS) is a rare genetic condition characterized by poikiloderma, sparse hair, short stature, skeletal abnormalities, cataracts, and increased risk for malignancies. The presenting symptom is often a classic rash with erythema on the cheeks and face with spread to extensor surfaces of extremities. Gradually over months to years, this rash develops into poikiloderma (reticulated hyper- and...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Black or African American
• Share to Child, Preschool