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Orofacial Features of Hypohidrotic Ectodermal Dysplasia

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Abstract

Hypohidrotic ectodermal dysplasia (HED) is a type of genodermatosis characterized by the abnormal development of sweat glands, teeth, and hair. The most prevalent form of HED is X-linked hypohidrotic ectodermal dysplasia (XLHED), which is associated with mutations in the EDA gene. The aim of this case report was to describe a family with XLHED with emphasis on differences in orofacial features between members. Family members were systematically evaluated to characterize the pattern of inheritance and clinical features. Dental examination included evaluation of agenesis and abnormal teeth structure. The pedigree of the last seven generations of the family was constructed. Clinical examination and medical history revealed five males affected by HED and nine female as heterozygous carriers. The males exhibited the classic phenotype of XLHED, with dental abnormalities, hypohydrosis, and craniofacial dysmorphologies. The heterozygous carriers of the X-linked gene defect principally exhibited dental agenesis of the lateral maxillary incisors. Careful clinical examination, including dental evaluation, is an important way to detect heterozygous carriers of X-linked HED. Heterozygous parents of patients with HED may also show some features of the disorder. The identification of female carriers results in genetic counseling being offered to affected families, as well as providing adequate treatment as necessary and long-term follow-up of these patients.

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Authors and Affiliations

  1. Department of Oral Diagnosis, School of Dentistry, State University of Campinas, Av. Limeira 901, Piracicaba, São Paulo, 13414-018, Brazil

    Sibele Nascimento de Aquino

  2. Stomatology Clinic, Dental School, State University of Montes Claros, Montes Claros, Minas Gerais, Brazil

    Lívia Maris Ribeiro Paranaíba, Daniella Reis Barbosa Martelli & Hercílio Martelli Júnior

  3. Center for Rehabilitation of Craniofacial Anomalies, Dental School, University of Alfenas, Alfenas, Minas Gerais, Brazil

    Mário Sérgio Oliveira Swerts, Letízia Monteiro de Barros & Hercílio Martelli Júnior

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  1. Sibele Nascimento de Aquino
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  2. Lívia Maris Ribeiro Paranaíba
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  6. Hercílio Martelli Júnior
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Correspondence to Sibele Nascimento de Aquino.

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de Aquino, S.N., Paranaíba, L.M.R., Swerts, M.S.O. et al. Orofacial Features of Hypohidrotic Ectodermal Dysplasia. Head and Neck Pathol 6, 460–466 (2012). https://doi.org/10.1007/s12105-012-0349-4

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  • DOI: https://doi.org/10.1007/s12105-012-0349-4

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