A rare case report of AEC syndrome, Ankyloblepharon, ectodermal dysplasia and cleft LIP/cleft palate

The AEC syndrome or Hay wells syndrome is an unusual autosomal dominant disorder characterised by Ankyloblepharon, Ectodermal dysplasia and Cleft palate and/or Cleft lip. This syndrome occurs as a result of missense mutation in TP63 affecting P63 SAM of the gene, which is a protein-protein interacti...

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Published inIP Indian Journal of Clinical and Experimental Dermatology Vol. 8; no. 4; pp. 257 - 259
Main Authors Sree, Kalle Gauthami, Aishwarya, N, Lakshmi, P Vijaya
Format Journal Article
LanguageEnglish
Published 28.11.2022
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Summary:The AEC syndrome or Hay wells syndrome is an unusual autosomal dominant disorder characterised by Ankyloblepharon, Ectodermal dysplasia and Cleft palate and/or Cleft lip. This syndrome occurs as a result of missense mutation in TP63 affecting P63 SAM of the gene, which is a protein-protein interaction domain. It is associated with some irregularities like Cleft palate /Cleft lip, severe scalp erosions and abnormalities of epidermal appendages including hypotrichosis, hypodontia, absent or dystrophic nails & mild hypohydrosis. We, here by report a case of full term baby born to third degree consanguineous parents with features of cleft lip and cleft palate, multiple erosions present over back, alopecia over left side of scalp along with few erosions over right side of scalp, sparse eye brows & eye lashes, Ankyloblepharon, Microphallus, Dystrophic finger and toe nails due to its rarity. Diagnosis is made commonly by clinical examination and Genetic analysis.
ISSN:2581-4710
2581-4729
DOI:10.18231/j.ijced.2022.052