2010
DOI: 10.1111/j.1365-2133.2010.09859.x
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Rapp-Hodgkin and Hay-Wells ectodermal dysplasia syndromes represent a variable spectrum of the same genetic disorder

Abstract: Our clinicopathological and molecular findings indicate that there is no justification for the continued use of eponyms in referring to these particular ectodermal dysplasia syndromes. We support the view that the terms ‘Hay-Wells’ and ‘Rapp-Hodgkin’ should be abandoned in favour of the all-inclusive diagnosis ‘AEC syndrome’, notwithstanding the inconsistency or often transient nature of the ankyloblepharon.

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Cited by 38 publications
(31 citation statements)
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“…Lastly, the use of genetically heterogeneous sources of keratinocytes in this type of study is of concern. In fact, genetic background effects are well-known to influence the severity of disease phenotypes as demonstrated by the clinical variability observed in related patients carrying the same TP63 mutation (Bertola et al, 2004; Clements et al, 2010; Dianzani et al, 2003). Further, discarded patient skin is often derived from different body sites.…”
Section: New Approaches Of Modeling Complex Diseases In Vitromentioning
confidence: 99%
“…Lastly, the use of genetically heterogeneous sources of keratinocytes in this type of study is of concern. In fact, genetic background effects are well-known to influence the severity of disease phenotypes as demonstrated by the clinical variability observed in related patients carrying the same TP63 mutation (Bertola et al, 2004; Clements et al, 2010; Dianzani et al, 2003). Further, discarded patient skin is often derived from different body sites.…”
Section: New Approaches Of Modeling Complex Diseases In Vitromentioning
confidence: 99%
“…Another p63-associated disorder is the ankyloblepharon-ectodermal defects-cleft lip/ palate (AEC) syndrome, which differs from the EEC syndrome mainly by the severity of the skin phenotype, the occurrence of an eyelid fusion at birth, and the absence of limb malformations. Mutations associated with the AEC syndrome are localized in the C-terminal SAM domain, which is absent in the p53 protein (7,9).…”
mentioning
confidence: 99%
“…There has been ample evidence that the EEC syndrome is mostly caused by mutations in exons 4-8 of TP63 (altering the DNA-binding domain, amino acids 165-357), whereas the RHS and AEC syndrome are typically generated by mutations in exons 12-14 (altering the SAM domain, amino acids 543-610) (Rinne et al, 2006(Rinne et al, , 2007Clements et al, 2010). Hence, mutations causing RHS should be expected in the SAM domain.…”
Section: Discussionmentioning
confidence: 96%
“…Mutations in the DNA-binding domain typically cause EEC syndrome and SAM domain mutations usually generate either RHS or AEC syndrome (Brunner et al, 2002;Rinne et al, 2007;Clements et al, 2010). Mutations in the tetramerization domain do not show a clustering of specific phenotypes.…”
Section: Introductionmentioning
confidence: 96%