Congenital poikiloderma, or Rothmund-Thomson syndrome (RTS), is a rare genodermatosis with autosomal recessive inheritance. It is characterized by early-onset facial poikiloderma and associated with clinical features, including short stature, sparse scalp hair, absent or sparse eyelashes or eyebrows, juvenile cataracts, skeletal abnormalities, premature aging, and susceptibility to osteosarcoma. There are 2 types of congenital poikiloderma. Type 1 is characterized by rapidly progressive, bilateral, juvenile cataracts. In contrast, type 2 is characterized by congenital bone abnormalities and an increased risk of osteosarcoma in childhood and squamous cell carcinoma at an older age. This activity reviews the presentation, evaluation, and management of congenital poikiloderma and stresses the role of an interprofessional team approach to the care of affected patients.
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Relevant across 8 specialties.
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- Credit · Up to 1 credit
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- Fee varies · this provider typically $49–98
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ReleasedSep 1, 2026
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Last day to claim creditSep 1, 2029 3 years left
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A. Webb Roberts Center for Continuing Medical Education of Baylor Scott & White Health 2025 Clinician Corner – A rare cause of neonatal cholestasis: congenital portosystemic shunt
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Anderson Publishing +1 Multimodality Evaluation of Fetal Congenital Diaphragmatic Hernia and its Mimics
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American Academy of Otolaryngology – Head & Neck Surgery Foundation Pediatric Hearing Loss: What’s New in Genetics and Gene Therapy, Congenital CMV, and Imaging (2024 AMW)
