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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.

Links

Publisher Full Text
journals.sagepub.com
dx.doi.org
Aggregator Full Text

Authors+Show Affiliations

Li K
University of Calgary, Calgary, AB, Canada. kayi.li2@gmail.com
Ann Thomas M
No affiliation info available
Haber RM
No affiliation info available

MeSH

Abnormalities, MultipleDNA Mutational AnalysisDarier DiseaseDiagnosis, DifferentialEyebrowsFemaleGenotypeHumansInfantMutationNoonan SyndromeSOS1 Protein

Pub Type(s)

Case Reports
Journal Article
Review

Language

eng

PubMed ID

23673306

Citation

Li, Kayi, et al. "Ulerythema Ophryogenes, a Rarely Reported Cutaneous Manifestation of Noonan Syndrome: Case Report and Review of the Literature." Journal of Cutaneous Medicine and Surgery, vol. 17, no. 3, 2013, pp. 212-8.
Li K, Ann Thomas M, Haber RM. Ulerythema ophryogenes, a rarely reported cutaneous manifestation of noonan syndrome: case report and review of the literature. J Cutan Med Surg. 2013;17(3):212-8.
Li, K., Ann Thomas, M., & Haber, R. M. (2013). Ulerythema ophryogenes, a rarely reported cutaneous manifestation of noonan syndrome: case report and review of the literature. Journal of Cutaneous Medicine and Surgery, 17(3), 212-8.
Li K, Ann Thomas M, Haber RM. 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. PubMed PMID: 23673306.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Ulerythema ophryogenes, a rarely reported cutaneous manifestation of noonan syndrome: case report and review of the literature. AU - Li,Kayi, AU - Ann Thomas,Mary, AU - Haber,Richard M, PY - 2013/5/16/entrez PY - 2013/5/16/pubmed PY - 2013/7/31/medline SP - 212 EP - 8 JF - Journal of cutaneous medicine and surgery JO - J Cutan Med Surg VL - 17 IS - 3 N2 - 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. SN - 1203-4754 UR - https://www.unboundmedicine.com/medline/citation/23673306/Ulerythema_ophryogenes_a_rarely_reported_cutaneous_manifestation_of_noonan_syndrome:_case_report_and_review_of_the_literature_ L2 - https://journals.sagepub.com/doi/10.2310/7750.2011.11017?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub=pubmed DB - PRIME DP - Unbound Medicine ER -