Acne and craniofacial defects

A 37-year-old man with a history of severe acne, craniosynostosis, neurogenic bladder, recurrent urinary tract infections, bilateral hearing loss, and migraines presented with a 3-month history of a pruritic and painful nodule on his chest. Physical examination found a mix of inflammatory and nodulocystic acne involving the face, chest, and back; a flat forehead and midface; syndactyly; hypertelorism with a laterally downsloping slant; and a well-circumscribed 1-cm violaceous exophytic pink to dark red nodule with crusting involving the left upper chest (Fig 1). A shave biopsy of the lesion was obtained (Fig 2).