| Dermatological findings in 61 mutation-positive individuals with cardiofaciocutaneous syndrome. | |
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MedLine Citation:
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PMID: 21062266 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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/mitogen-activated protein kinase (MAPK) pathway. Cardiofaciocutaneous (CFC) syndrome is characterized by distinctive craniofacial features, congenital heart defects, and abnormalities of the skin and hair. OBJECTIVES: Systematically to characterize the spectrum of dermatological findings in mutation-positive individuals with CFC syndrome. METHODS: Dermatological surveys were designed by the authors and distributed to the study participants through CFC International or directly by the authors (K.A.R. and D.H.S.) 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 syndrome who have a mutation in BRAF, MAP2K1, MAP2K2 or KRAS. RESULTS: Individuals with CFC syndrome have a variety of dermatological manifestations caused by dysregulation of the MAPK pathway in development. Numerous acquired melanocytic naevi were one of the most striking features: more than 50 naevi were reported by 23% (14/61) of participants and of those, more than 100 naevi were reported by 36% (5/14). Keratosis pilaris was reported in 80% (49/61) of cases. Ulerythema ophryogenes was common, occurring in 90% (55/61). Infantile haemangiomas occurred at a greater frequency, 26% (16/61), as compared with the general population. CONCLUSIONS: CFC syndrome has a complex dermatological 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 papillomas 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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Authors:
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D H Siegel; J McKenzie; I J Frieden; K A Rauen |
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Publication Detail:
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Type: Journal Article; Research Support, N.I.H., Extramural Date: 2011-01-28 |
Journal Detail:
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Title: The British journal of dermatology Volume: 164 ISSN: 1365-2133 ISO Abbreviation: Br. J. Dermatol. Publication Date: 2011 Mar |
Date Detail:
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Created Date: 2011-03-07 Completed Date: 2011-05-17 Revised Date: 2011-09-22 |
Medline Journal Info:
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Nlm Unique ID: 0004041 Medline TA: Br J Dermatol Country: England |
Other Details:
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Languages: eng Pagination: 521-9 Citation Subset: IM |
Copyright Information:
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© 2011 The Authors. BJD © 2011 British Association of Dermatologists. |
Affiliation:
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Department of Dermatology and Pediatrics, Oregon Health and Science University, Portland, USA. dsiegel@mcw.edu |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple Adolescent Adult Child Child, Preschool Ectodermal Dysplasia / genetics, pathology Facies Failure to Thrive / genetics, pathology Female Germ-Line Mutation* Hair Diseases / pathology* Heart Defects, Congenital / genetics, pathology Humans Infant MAP Kinase Kinase 1 / genetics MAP Kinase Kinase 2 / genetics Male Proto-Oncogene Proteins / genetics Proto-Oncogene Proteins B-raf / genetics Skin Abnormalities / pathology* Young Adult ras Proteins / genetics |
| Grant Support | |
ID/Acronym/Agency:
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HD048502/HD/NICHD NIH HHS; K23 HD048502-01/HD/NICHD NIH HHS; UL1 RR02414001/RR/NCRR NIH HHS |
| Chemical | |
Reg. No./Substance:
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0/KRAS protein, human; 0/Proto-Oncogene Proteins; EC 2.7.1.-/MAP2K1 protein, human; EC 2.7.1.-/MAP2K2 protein, human; EC 2.7.1.37/BRAF protein, human; EC 2.7.11.1/Proto-Oncogene Proteins B-raf; EC 2.7.12.2/MAP Kinase Kinase 1; EC 2.7.12.2/MAP Kinase Kinase 2; EC 3.6.5.2/ras Proteins |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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