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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.

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  • Authors+Show Affiliations

    ,

    University of Calgary, Calgary, AB, Canada. kayi.li2@gmail.com

    ,

    Source

    MeSH

    Abnormalities, Multiple
    DNA Mutational Analysis
    Darier Disease
    Diagnosis, Differential
    Eyebrows
    Female
    Genotype
    Humans
    Infant
    Mutation
    Noonan Syndrome
    SOS1 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), 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. 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 - http://journals.sagepub.com/doi/full/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 -