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• W2092625384 abstract "Rapp-Hodgkin syndrome (RHS) is characterized by hypohidrotic ectodermal dysplasia and cleft lip/palate. This combination of clinical findings is also seen in ankyloblepharon–ectodermal dysplasia–clefting syndrome (AEC) and ectrodactyly–ectodermal dysplasia–clefting syndrome (EEC). 1 Rapp R.S. Hodgkin W.E. Anhidrotic ectodermal dysplasia: autosomal dominant inheritance with palate and lip anomalies. J Med Genet. 1968; 5: 269-272 Crossref PubMed Google Scholar , 2 Priolo M. Lagana C. Ectodermal dysplasias: a new clinical-genetic classification. J Med Genet. 2001; 38: 579-585 Crossref PubMed Scopus (129) Google Scholar , 3 Neilson D.E. Brunger J.W. Heeger S. Bamshad M. Robin N.H. Mixed clefting type in Rapp-Hodgkin syndrome. Am J Med Genet. 2002; 108: 281-284 Crossref PubMed Scopus (10) Google Scholar Although there is much clinical overlap, the presence of ectrodactyly (absence or deficiency of digits) is considered to be unique to EEC and ankyloblepharon (fusion of the eyelid margins) is unique to AEC. The presence of ectodermal dysplasia and oral clefting in combination with a distinctive facies, such as narrow or pinched nose and small mouth, suggests RHS. 4 Bjorklund L. Felding I. Rapp-Hodgkin ectodermal dysplasia. Acta Paediatr Scand. 1991; 80: 93-94 Crossref PubMed Google Scholar , 5 Fosko S.W. Stenn K.S. Bolognia J.L. Ectodermal dysplasias associated with clefting: significance of scalp dermatitis. J Am Acad Dermatol. 1992; 27: 249-256 Abstract Full Text PDF PubMed Scopus (63) Google Scholar , 6 Kantaputra P.N. Pruksachatkunakorn C. Vanittanakom P. Rapp-Hodgkin syndrome with palmoplantar keratoderma, glossy tongue, congenital absence of lingual frenum and of sublingual caruncles: newly recognized findings. Am J Med Genet. 1998; 79: 343-346 Crossref PubMed Scopus (17) Google Scholar , 7 Kantaputra P.N. Hamada T. Kumchai T. McGrath J.A. Heterozygous mutation in the SAM domain of p63 underlies Rapp-Hodgkin ectodermal dysplasia. J Dent Res. 2003; 82: 433-437 Crossref PubMed Scopus (58) Google Scholar The phenotypic similarities have led to much speculation about a genetic relationship among AEC, EEC, and RHS. There is an overlap between RHS and AEC with characteristic RHS facies 8 Cambiaghi S. Tadini G. Barbareschi M. Menni S. Caputo R. Rapp-Hodgkin syndrome and AEC syndrome: are they the same entity?. Br J Dermatol. 1994; 130: 97-101 Crossref PubMed Scopus (50) Google Scholar , 9 Rowan D.M. Scalp dermatitis, ectodermal dysplasia and cleft lip and palate: Rapp-Hodgkin or AEC syndrome. Australas J Dermatol. 1996; 37: 102-103 Crossref PubMed Scopus (20) Google Scholar , 10 Sahin M.T. Turel-Ermertcan A. Chan I. McGrath J.A. Ozturkcan S. Ectodermal dysplasia showing clinical overlap between AEC, Rapp-Hodgkin and CHAND syndromes. Clin Exp Dermatol. 2004; 29: 486-488 Crossref PubMed Scopus (18) Google Scholar and there has been a report 11 Moerman P. Fryns J.P. Ectodermal dysplasia, Rapp-Hodgkin type in a mother and severe ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC) in her child. Am J Med Genet. 1996; 63: 479-481 Crossref PubMed Scopus (28) Google Scholar of a family whose mother has RHS and a son has EEC. Recent genetic molecular studies have shown that AEC, EEC, and RHS represent a wide phenotypic spectrum of a single genetic disorder associated with mutations in the TP63 gene. 7 Kantaputra P.N. Hamada T. Kumchai T. McGrath J.A. Heterozygous mutation in the SAM domain of p63 underlies Rapp-Hodgkin ectodermal dysplasia. J Dent Res. 2003; 82: 433-437 Crossref PubMed Scopus (58) Google Scholar , 12 Bougeard G. Hadj-Rabia S. Faivre L. Sarafan-Vasseur N. Frebourg T. The Rapp-Hodgkin syndrome results from mutations of the TP63 gene. Eur J Hum Genet. 2003; 11: 700-704 Crossref PubMed Scopus (40) Google Scholar , 13 Dianzani I. Garelli E. Gustavsson P. Carando A. Gustafsson B. Dahl N. et al. Rapp-Hodgkin and AEC syndromes due to a new frameshift mutation in the TP63 gene. J Med Genet. 2003; 40: e133 Crossref PubMed Scopus (38) Google Scholar , 14 Bertola D.R. Kim C.A. Albano L.M. Scheffer H. Meijer R. van Bokhoven H. Molecular evidence that AEC syndrome and Rapp-Hodgkin syndrome are variable expressions of a single genetic disorder. Clin Genet. 2004; 66: 79-80 Crossref PubMed Scopus (46) Google Scholar" @default.
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• W2092625384 date "2005-10-01" @default.
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• W2092625384 title "Rapp-Hodgkin syndrome: A review of the aspects of hair and hair color" @default.
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