title: Ulerythema ophryogenes, a rarely reported cutaneous manifestation of noonan syndrome: case report and review of the literature.
abstract: BACKGROUND
  Ulerythema ophryogenes (also known as keratosis pilaris atrophicans faciei) is a rarely reported cutaneous manifestation of Noonan syndrome.
  
  
  OBJECTIVE
  Recognizing ulerythema ophryogenes as a cutaneous association in Noonan syndrome may aid in the diagnosis of this relatively common genetic condition.
  
  
  METHODS
  We present a case of a patient with Noonan syndrome and ulerythema ophryogenes associated with a SOS1 mutation and review the literature on this association.
  
  
  RESULTS
  To the best of our knowledge, this is the second case of Noonan syndrome proven to be due to an SOS1 mutation in which ulerythema ophryogenes was clinically recognized and specifically diagnosed.
  
  
  CONCLUSIONS
  The presence of ulerythema ophryogenes in a patient with Noonan syndrome increases the likelihood of a SOS1 mutation. Further reports by dermatologists and medical geneticists documenting ulerythema ophryogenes and not just descriptions of sparse or absent eyebrows will help support this genotype-phenotype correlation.
authors.affiliation: University of Calgary, Calgary, AB, Canada. kayi.li2@gmail.com
authors.forename: Kayi
authors.initials: K
authors.lastname: Li
authors.forename: Mary
authors.initials: M
authors.lastname: Ann Thomas
authors.forename: Richard M
authors.initials: RM
authors.lastname: Haber
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics; D004252:DNA Mutational Analysis; D007644:Darier Disease / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics; D003937:Diagnosis, Differential; D005138:Eyebrows / Q000002:abnormalities; D005260:Female; D005838:Genotype; D006801:Humans; D007223:Infant; D009154:Mutation; D009634:Noonan Syndrome / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D020837:SOS1 Protein / Q000235:genetics
chemical_list: D020837:SOS1 Protein