Rothmund-Thomson syndrome : Clinical and histopathologic fea
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Rothmund-Thomson syndrome (RTS) is an autosomal recessive genodermatosis characterized initially by facial erythema, blisters, and edema, followed by a poikilodermatous stage. Early diagnosis of RTS can be challenging.

A 19-month-old girl with history of developmental delay, failure to thrive, and chronic diarrhea with a gastrostomy tube, who was on omeprazole, presented for evaluation of a rash. At 7 months of age, a rash was first noted on her face; subsequently, it spread to her extremities. On examination, she had dysmorphic facial features. There were edematous, erythematous to violaceous polycyclic papules and plaques with coarse surface scale on the bilateral cheeks and extensor extremities in a photodistributed pattern. Results of an initial skin biopsy performed at 12 months of age at an outside institution showed lichenoid interface dermatitis with focal epidermal necrosis and inflammation, suggestive of cutaneous lupus.

Omeprazole was discontinued, and the patient was treated with topical steroids and photoprotection. However, the rash continued to progress. She subsequently developed generalized livedo reticularis and bullae within pre-existing lesions. Repeat skin biopsy again showed vacuolar to lichenoid interface dermatitis with numerous dyskeratotic cells and a thickened, compact cornified layer. Given her worsening symptoms, she was evaluated by the pediatric rheumatology department and began systemic steroids and mycophenolate mofetil.

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