Isotretinoin treatment of acne in a patient with Apert syndrome

Apert syndrome is an autosomal dominant disease caused by mutations in fibroblast growth factor receptor (FGFR-2) and characterized by premature fusion of the cranial sutures and early epiphyseal closure. The development of widespread, severe, pustular acne around puberty is a characteristic feature in these patients. The FGFR-2 mutation of Apert syndrome has been described in localized nevoid acne lesions, which have been attributed to somatic mosaicism. Isotretinoin has been reported to be useful in controlling this acne. We report the successful treatment of acne with isotretinoin in a teenager with Apert syndrome and review the pathophysiology of acne in this syndrome.