The prevalence of melanocytic naevi among teenagers

Csoma, Zsanett; Erdei, Zsuzsanna; Bartusek, Dóra; Dósa-Rácz, Éva Viharosné; Kemény, Lajos; Oláh, Judit

doi:10.1556/oh.2008.28446

Cited by 3 publications

(1 citation statement)

References 39 publications

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“…A population study in Hungary evaluating the prevalence of melanocytic naevi in a full‐body examination in 14‐ to 18‐year‐olds demonstrated that 5·4% of the subjects had more than 100 naevi. Of the age‐matched CFC individuals in this study, 36% (4/11) had more than 100 naevi 23 . The age range for individuals with more than 100 naevi was 12–25 years.…”

Section: Discussionmentioning

confidence: 78%

Dermatological findings in 61 mutation-positive individuals with cardiofaciocutaneous syndrome

Siegel¹,

McKenzie²,

Frieden³

2011

British Journal of Dermatology

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Background The RASopathies are a class of human genetic syndromes that are caused by germline mutations in genes which encode components of the Ras/MAPK pathway. Cardio-facio-cutaneous (CFC) syndrome is characterized by distinctive craniofacial features, congenital heart defects, and abnormalities of the skin and hair. Objective To systematically characterize the spectrum of dermatologic findings in mutation-positive individuals with cardio-facio-cutaneous (CFC) syndrome. Methods Dermatologic surveys were designed by the authors and distributed to the study participants through CFC International or directly by the authors (KAR and DHS) between July 2006 and August 2009. A second follow up survey was collected between December 2007 and August 2009. When available, digital images and medical records of the participants were obtained. Study participants included individuals with CFC who have a mutation in BRAF, MEK1, MEK2 or KRAS. Results Individuals with CFC have a variety of dermatologic manifestations caused by dysregulation of the mitogen-activated protein kinase pathway in development. Numerous acquired melanocytic nevi were one of the most striking features; greater than 50 nevi were reported by 23 % (14/61) of participants and of those, greater than 100 nevi were reported by 36% (5/14). Keratosis pilaris was reported in 80% (49/61) of cases. Ulerythema ophryogenes was common occurring in 55/61 (90%). Infantile hemangiomas occurred at a greater frequency, 26% (16/61), as compared to the general population. Conclusions CFC syndrome has a complex dermatologic phenotype with many cutaneous features, some of which allow it to be differentiated from the other Ras/MAPK pathway syndromes. Multiple café au lait macules and papillomata were not identified in this CFC cohort helping to distinguish CFC from other RASopathies, such as neurofibromatosis type 1 and Costello syndrome.

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Section: Discussionmentioning

confidence: 78%