Literature DB >> 24770526

Syndrome in question. Hay-Wells syndrome.

Vanessa Mello Tonolli1, Hamilton Ometto Stolf1, Cláudio Sampieri Tonello2, Rafaelle Batistella Pires3, Luciana Patricia Fernandes Abbade1.   

Abstract

Hay-Wells syndrome or AEC (Ankyloblepharon, Ectodermal dysplasia and Cleft lip and palate syndrome) is a rare ectodermal disorder. The treatment is aimed to prevent clinical complications. We describe the case of a four-month old male patient with erosions on the scalp, trunk and arms, trachyonychia, deformity of the ears, micropenis, cleft palate, decreased eyebrow and eyelash hairs, in addition to antecedents of surgical correction of ankyloblepharon. The importance of the correct diagnosis is emphasized, besides the investigation of the associated diseases, treatment of complications and genetic counseling of the parents.

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Mesh:

Year:  2014        PMID: 24770526      PMCID: PMC4008080          DOI: 10.1590/abd1806-4841.20142806

Source DB:  PubMed          Journal:  An Bras Dermatol        ISSN: 0365-0596            Impact factor:   1.896


  5 in total

1.  The syndrome of ankyloblepharon, ectodermal defects and cleft lip and palate: an autosomal dominant condition.

Authors:  R J Hay; R S Wells
Journal:  Br J Dermatol       Date:  1976-03       Impact factor: 9.302

2.  Hay-Wells syndrome: a case report.

Authors:  Dário Júnior de Freitas Rosa; Ronaldo Figueiredo Machado; Marcelino Pereira Martins Neto; Alessandra Almeida Montenegro de Sá; Aloísio Gamonal
Journal:  An Bras Dermatol       Date:  2010 Mar-Apr       Impact factor: 1.896

3.  A novel de novo missense mutation in TP63 underlying germline mosaicism in AEC syndrome: implications for recurrence risk and prenatal diagnosis.

Authors:  Vanessa Barbaro; Paola Nardiello; Giuseppe Castaldo; Colin E Willoughby; Stefano Ferrari; Diego Ponzin; Felice Amato; Ernesto Bonifazi; Mohit Parekh; Arianna Calistri; Cristina Parolin; Enzo Di Iorio
Journal:  Am J Med Genet A       Date:  2012-06-27       Impact factor: 2.802

4.  Ankyloblepharon-ectodermal dysplasia-clefting syndrome: a novel p63 mutation associated with generalized neonatal erosions.

Authors:  Shilpa S Sawardekar; Andrea L Zaenglein
Journal:  Pediatr Dermatol       Date:  2010-08-04       Impact factor: 1.588

5.  Mutations in AEC syndrome skin reveal a role for p63 in basement membrane adhesion, skin barrier integrity and hair follicle biology.

Authors:  S E Clements; T Techanukul; J E Lai-Cheong; J B Mee; A P South; C Pourreyron; N P Burrows; J E Mellerio; J A McGrath
Journal:  Br J Dermatol       Date:  2012-05-14       Impact factor: 9.302

  5 in total
  2 in total

Review 1.  Trachyonychia: Review and Update on Clinical Aspects, Histology, and Therapy.

Authors:  Jessica S Haber; Manasmon Chairatchaneeboon; Adam I Rubin
Journal:  Skin Appendage Disord       Date:  2016-09-21

Review 2.  Trachyonychia and Twenty-Nail Dystrophy: A Comprehensive Review and Discussion of Diagnostic Accuracy.

Authors:  Audrey A Jacobsen; Antonella Tosti
Journal:  Skin Appendage Disord       Date:  2016-04-30
  2 in total

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