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Ulerythema ophryogenes, a rarely reported cutaneous manifestation of noonan syndrome: case report and review of the literature.J Cutan Med Surg. 2013 May-Jun; 17(3):212-8.JC
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.
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MeSH
Abnormalities, MultipleDNA Mutational AnalysisDarier DiseaseDiagnosis, DifferentialEyebrowsFemaleGenotypeHumansInfantMutationNoonan SyndromeSOS1 Protein
Pub Type(s)
Case Reports
Journal Article
Review
Language
eng
PubMed ID
23673306