Rothmund-Thomson Syndrome Associated with Malignant Fibrous Histiocytoma: Report of a Case and Review of Literature

Abstract

Background: Rothmund–Thomson syndrome is a rare autosomal recessive genodermatosis characterized by the early onset of poikiloderma, and several other cutaneous layers and organ involvements. Case Report: This is a report of a 14-year-old girl who has been diagnosed with Rothmund–Thomson syndrome since she was 3 years old. She has been suffering from pain and swelling of the right elbow and forearm for about 6 months. She was hospitalized because of a swollen, tender erythematous mass on her right elbow that had appeared one year earlier and had enlarged gradually. On physical examination, she had a bird-like appearance. Scalp hair, eyebrows and lashes were sparse. Conclusion: There are few previous reports on Rothmund–Thomson syndrome associated with malignant fibrous histiocytoma. We decided to report this case as another supporting document for this association.

Keywords

• Poikiloderma
• Malignant fibrous histocytoma
• Rothmund–Thomson syndrome