title: Low-level mesodermal somatic mutation mosaicism: late-onset craniofacial and cervical spinal hyperostoses.
abstract: Craniofacial and cervical spinal hyperostoses are rarely seen in the absence of other abnormalities. Only seven patients with isolated cranial hyperostoses have been reported, and only a single patient with both calvarial and cervical vertebral hyperostoses. We report on an adult with late-onset right-sided asymmetrical hyperostoses of the cranium, mandible, and cervical vertebrae in the absence of an AKT1 mutation. At presentation, the patient displayed neither generalized overgrowth nor dysregulated adipose tissue. Standard polymerase chain reaction and Sanger sequencing of DNA extracted from formalin-fixed paraffin-embedded frontal bone and mandibular angular bone was negative for an AKT1 mutation. Though the patient's clinical manifestations did not fulfill the consensus diagnostic criteria of Proteus syndrome, the mosaic distribution of lesions, the sporadic occurrence, and the patient's progressive course were consistent with a somatic mosaicism similar to that syndrome. Hence, the patient's phenotype may have been caused by a very late mesodermal somatic mutation during embryogenesis.
authors.affiliation: Department of Plastic Surgery, Chiba University, Chiba-city, Chiba, Japan.
authors.forename: Yoshitaka
authors.initials: Y
authors.lastname: Kubota
authors.forename: Nobuyuki
authors.initials: N
authors.lastname: Mitsukawa
authors.forename: Michiko
authors.initials: M
authors.lastname: Uchida
authors.forename: Yuuki
authors.initials: Y
authors.lastname: Uchida
authors.forename: Shinsuke
authors.initials: S
authors.lastname: Akita
authors.forename: Masakazu
authors.initials: M
authors.lastname: Hasegawa
authors.forename: Kaneshige
authors.initials: K
authors.lastname: Satoh
mesh_terms: D000328:Adult; D017668:Age of Onset; D002574:Cervical Vertebrae / Q000473:pathology; D019465:Craniofacial Abnormalities / Q000175:diagnosis / Q000235:genetics*; D004252:DNA Mutational Analysis; D006801:Humans; D015576:Hyperostosis / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D008648:Mesoderm / Q000378:metabolism*; D009030:Mosaicism; D009154:Mutation; D010641:Phenotype; D049268:Positron-Emission Tomography; D051057:Proto-Oncogene Proteins c-akt / Q000235:genetics; D011861:Radiography, Dental; D014057:Tomography, X-Ray Computed; D055815:Young Adult
chemical_list: C494918:AKT1 protein, human; D051057:Proto-Oncogene Proteins c-akt
keywords: Proteus syndrome; hyperostosis; v-akt murine thymoma viral oncogene homolog 1