A case report of Apert syndrome with review of literatures

Abstract

Apert syndrome is a rare syndrome which presents with craniosynostosis, severe syndactyly, and dysmorphic facial features. It is mainly caused by a new mutation in fibroblast growth factor receptor-2 gene. Up-regulation of this gene results in bone fusion and nuclear deficiency of the transcription factor FoxO1 which is a key transcription factor in the pathogenesis of acne. We present herein a 19-year-old man with nodulocystic acne associated with acrocephaly, prominent forehead, ocular hypertelorism, short and broad nose, high arched palate, maxillary hypoplasia, dental crowding and ectopia, severe bilateral syndactyly of the hands and feet. Apert syndrome was diagnosed for him based on mentioned clinical findings. Isotretinoin 20 mg/day was prescribed for nodulocystic acne with significant improvement two months later. Severe acne in early puberty associated with synostosis is the hallmark of Apert syndrome and we should mindful of these syndromic cases in dermatology clinic.