Multicentric dermatofibrosarcoma protuberans in a child with severe combined immunodeficiency due to adenosine deaminase deficiency

We report the case of a 4-year-old boy, post-human stem cell transplantation for severe combined immunodeficiency (SCID) due to adenosine deaminase deficiency (ADA), who developed multiple dermatofibrosarcoma protuberans (DFSP). We hypothesize a role for chimerism leading to accumulation of toxic metabolites which can cause DNA strand breaks and inhibit lymphocyte activation. Patients with ADA-SCID should remain under lifelong dermatologic surveillance as DFSP lesions can be quite inconspicuous.