| Rapp-Hodgkin and Hay-Wells ectodermal dysplasia syndromes represent a variable spectrum of the same genetic disorder. | |
| | |
MedLine Citation:
|
PMID: 20491771 Owner: NLM Status: In-Process |
Abstract/OtherAbstract:
|
BACKGROUND: Rapp-Hodgkin syndrome (RHS) and Hay-Wells [also known as ankyloblepharon-ectodermal defects-cleft lip/palate (AEC)] syndrome have been designated as distinct ectodermal dysplasia syndromes despite both disorders having overlapping clinical features and the same mutated gene, TP63. OBJECTIVES: To search for TP63 mutations in two unrelated cases of RHS and two of AEC syndrome and to review the TP63 mutation database and clinical descriptions of affected individuals, the goal being to refine genotype-phenotype correlation and to determine the clinical/molecular justification for RHS and AEC continuing to exist as separate entities. METHODS: Clinical examination of four affected cases and sequencing of genomic DNA using TP63-specific primers. Literature review of published clinical descriptions of RHS and AEC syndrome cases containing TP63 mutation data. RESULTS: Cases of RHS and AEC show considerable clinical overlap, particularly with regard to hypotrichosis and mid-face hypoplasia, and the clinical feature of ankyloblepharon in AEC is often subtle, transient and a poor distinguishing clinical sign. We identified two new and two recurrent heterozygous mutations in TP63: c.1456insA (p.Leu486fsX52), RHS; c.1537T>G (p.Phe513Val), RHS; c.1787delG (p.Gly596fsX68), AEC; and c.1682G>A (p.Gly561Asp), AEC. Including this study, 42 different mutations in TP63 in RHS and AEC have now been reported, three of which are exactly the same in both syndromes. CONCLUSIONS: 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. |
| | |
Authors:
|
S E Clements; T Techanukul; S T Holden; J E Mellerio; H Dorkins; F Escande; J A McGrath |
Publication Detail:
|
Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review |
Journal Detail:
|
Title: The British journal of dermatology Volume: 163 ISSN: 1365-2133 ISO Abbreviation: Br. J. Dermatol. Publication Date: 2010 Sep |
Date Detail:
|
Created Date: 2010-11-04 Completed Date: - Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 0004041 Medline TA: Br J Dermatol Country: England |
Other Details:
|
Languages: eng Pagination: 624-9 Citation Subset: IM |
Affiliation:
|
St John’s Institute of Dermatology, King’s College London (Guy’s Campus), London SE1 9EH, U.K. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
|
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Investigation of optimal aminolaevulinic acid concentration applied in topical aminolaevulinic acid-...
Next Document: Excimer laser vs. clobetasol propionate 0·05% ointment in prurigo form of atopic dermatitis: a rand...