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      Síndrome de Hay-Wells: relato de caso Translated title: Hay-Wells syndrome: a case report

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          Abstract

          A síndrome de Hay-Wells é uma forma rara de displasia ectodérmica, descrita inicialmente em 1976 por Hay e Wells, de caráter autossômico dominante com expressão variável, composta por anomalias congênitas da pele, cabelos, dentes, unhas e glândulas sudoríparas. Descrevemos o caso de um paciente de 17 anos, filho de pais não consangüíneos, que apresentava anquiloblefaron filiforme adenatum, displasia ectodérmica e fenda palatina ao nascimento, sinais considerados cardinais pela maioria dos autores. Destacamos também a importância do acompanhamento multidiscliplinar dos pacientes.

          Translated abstract

          Hay-Wells syndrome is a rare form of ectodermal dysplasia initially described by Hay and Wells in 1976. It is an autosomal dominant disorder with varying forms of expression featuring congenital abnormalities of the skin, hair, teeth, nails and sweat glands. The present report describes the case of a 17-yearold white boy, the son of nonconsanguineous parents, who presented ankyloblepharon filiforme adnatum, ectodermal dysplasia and a cleft palate at birth, which are considered cardinal signs of this syndrome by most authors. We also highlight the importance of implementing multidisciplinary follow-up of these patients.

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          Most cited references12

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          Ectodermal dysplasias: a clinical classification and a causal review.

          We present a casual review of 154 ectodermal dysplasias (EDs) as classified into 11 clinical subgroups. The number of EDs in each subgroup varies from one to 43. The numbers of conditions due to autosomal dominant, autosomal recessive, and X-linked genes are, respectively, 41, 52, and 8. In 53 conditions cause is unknown; 35 of them present some causal (genetic) suggestion.
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            Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63.

            Hay-Wells syndrome, also known as ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome (OMIM 106260), is a rare autosomal dominant disorder characterized by congenital ectodermal dysplasia, including alopecia, scalp infections, dystrophic nails, hypodontia, ankyloblepharon and cleft lip and/or cleft palate. This constellation of clinical signs is unique, but some overlap can be recognized with other ectodermal dysplasia syndromes, for example ectrodactyly--ectodermal dysplasia--cleft lip/palate (EEC; OMIM 604292), limb--mammary syndrome (LMS; OMIM 603543), acro-dermato-ungual-lacrimal-tooth syndrome (ADULT; OMIM 103285) and recessive cleft lip/palate--ectodermal dysplasia (CLPED1; OMIM 225060). We have recently demonstrated that heterozygous mutations in the p63 gene are the major cause of EEC syndrome. Linkage studies suggest that the related LMS and ADULT syndromes are also caused by mutations in the p63 gene. Thus, it appears that p63 gene mutations have highly pleiotropic effects. We have analysed p63 in AEC syndrome patients and identified missense mutations in eight families. All mutations give rise to amino acid substitutions in the sterile alpha motif (SAM) domain, and are predicted to affect protein--protein interactions. In contrast, the vast majority of the mutations found in EEC syndrome are amino acid substitutions in the DNA-binding domain. Thus, a clear genotype--phenotype correlation can be recognized for EEC and AEC syndromes.
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              The syndrome of ankyloblepharon, ectodermal defects and cleft lip and palate: an autosomal dominant condition.

              Seven patients from four families are reported who had an inherited condition of which the main features were ankyloblepharon, ectodermal defects and cleft lip and palate. The ectodermal defects were partial or complete hair loss, absent or dystrophic nails, pointed widely spaced teeth and partial anhidrosis. Associated anomalies included lacrimal duct atresia, supernumerary nipples, syndactyly and auricular deformities. The inheritance of this abnormality was consistent with that of an autosomal dominant trait. The relationship between this and similar syndromes is discussed.
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                Author and article information

                Journal
                abd
                Anais Brasileiros de Dermatologia
                An. Bras. Dermatol.
                Sociedade Brasileira de Dermatologia (Rio de Janeiro, RJ, Brazil )
                0365-0596
                1806-4841
                April 2010
                : 85
                : 2
                : 232-235
                Affiliations
                [02] Juiz de Fora MG orgnameUniversidade Federal de Juiz de Fora orgdiv1Serviço de Dermatologia Brasil
                [01] Juiz de Fora MG orgnameUniversidade Federal de Juiz de Fora Brasil
                Article
                S0365-05962010000200017 S0365-0596(10)08500217
                10.1590/S0365-05962010000200017
                f8fc2472-6846-42f3-9db9-b18847047ebc

                This work is licensed under a Creative Commons Attribution 4.0 International License.

                History
                : 27 April 2009
                : 08 May 2009
                Page count
                Figures: 0, Tables: 0, Equations: 0, References: 12, Pages: 4
                Product

                SciELO Brazil

                Categories
                Caso Clínico

                Displasia ectodérmica,Syndrome,Cleft palate,Ectodermal dysplasia,Fissura palatina,Síndrome

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