More than just a bump: the hamartoma syndromes.
The hamartoma syndromes detailed in this review are just a few examples of the many genodermatoses now known to be associated with uncontrolled tumor proliferation secondary to mutations in tumor suppressor genes. Knowledge gained through the study of these syndromes has not only improved our understanding of patients afflicted with such conditions, but has also led to significant insight into the important role tumor suppressor genes play in preventing tumor formation and in carcinogenesis. As major strides continue to be made in the identification of causative mutations in the hamartoma syndromes, options for genetic testing will continue to expand. Identification of mutations in PTEN in the various disorders that compose the PTEN hamartoma tumor syndrome illustrates just how such genetic knowledge has altered the way we both categorize and manage certain genetic conditions. As advances continue to be made in this arena, it is quite conceivable that many of the genetic syndromes will be renamed or categorized based on genetic mutations rather than the characteristic clinical features. However, despite these advances, it will still be the astute clinician's recognition of key clinical features that allows the diagnosis of a hamartoma syndrome to be considered.
Witman
Patricia M
PM
Department of Dermatology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA. Witman.patricia@mayo.edu
D006223:Hamartoma Syndrome, Multiple / Q000175:diagnosis*; D006801:Humans; D009154:Mutation; D051059:PTEN Phosphohydrolase / Q000235:genetics; D010580:Peutz-Jeghers Syndrome / Q000175:diagnosis; D016715:Proteus Syndrome / Q000175:diagnosis; D014402:Tuberous Sclerosis / Q000175:diagnosis
D051059:PTEN Phosphohydrolase; C494929:PTEN protein, human