Apert syndrome

Abstract

Apert syndrome or acrocephalosyndactyly is a rare autosomal dominant malformation syndrome characterized by craniosynostosis, symmetric severe syndactyly, and a variety of abnormalities of the skin, skeleton, brain, and visceral organs. A case of Apert syndrome and the clinical and specific cutaneous manifestations of this condition are reviewed.

Acne‐associated syndromes: models for better understanding of acne pathogenesis

“…Its birth prevalence is estimated to be 15/1 000 000 based on a recent population‐based study, making up approximately 4% of all cases of craniosynostosis 99 . Apert syndrome is inherited in an autosomal dominant manner and is characterized by synostoses of extremities, vertebrae and skull, with syndactyly of fingers and toes 98,100 . It was not until 1970 that Apert syndrome became known to dermatologists as Solomon described several patients with acne in an unusual distribution with lesions extending to the surface areas of the forearms (Fig.…”

Diseases of cutaneous appendages

“…141,142 Its manifestations include craniosynostosis, severe syndactyly of the hands and feet, and dysmorphic facial features. 144 Somatic mutations in FGFR2 can produce segmental acne (acneiform nevus). 143 It is due to a mutation in the fibroblast growth factor receptor 2 (FGFR2) gene at 10q26.…”

General and Oral Aspects in Apert Syndrome: Report of a Case

“…Wheaton SW, in 1894, described the first two cases of Apert syndrome revealing craniofacial, skull base and limbs findings, but unfortunately he attributed the calvarial phenotype and respiratory deficiencies to con-genital syphilis and the syndactyly to fetal inflammation [31]. Twelve years later, the Dr. Eugene Charles Apert described nine cases of syndactyly associated with acrocephaly [32].…”