Rothmund–Thomson syndrome presenting with bullous eruption: A rare case report

Abstract

Rothmund–Thomson syndrome is a rare, autosomal recessive genodermatosis characterized by an early-onset poikiloderma, skeletal abnormalities, short stature, premature aging, and increased susceptibility to malignancy. We report a case of a 1-year-old male child with bullous lesions and pigmentary changes over the face and extremities. Strict photoprotection and careful surveillance for malignancy forms the mainstay of treatment. The case is being reported due to its rarity and the diagnostic dilemmas associated with it.

Keywords

• Bullous lesion
• genodermatosis
• poikiloderma
• Rothmund–Thomson syndrome