DermKnowledgeBASE: Aec Syndrome

Aec Syndrome

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The text is the summary of recent articles on Aec Syndrome at 75 thresold from National Library of Medicine (NLM). This information is subject to NCBI's Disclaimer and Copyright notice.


Analysis of the TP63 gene from four of the patients and from two healthy individuals of the same family was performed [1]. Individuals typically have varying combinations of ectodermal dysplasia (subjective hypohidrosis, Nail dysplasia, sparse Hair, tooth abnormalities), cleft lip/palate, split-hand/foot malformation/syndactyly, lacrimal duct obstruction, Hypopigmentation, and hypoplastic breasts and/or nipples [2]. The transcription factor p63 is a master regulator of gene expression in stratified epithelia and controls several molecular processes [3]. Here, we show that in p63-null skin, Pvrl1 gene expression is strongly reduced, whereas Pvrl4 expression is unaffected [4]. The causative gene is crucial during embryonic ontogenesis, mostly in the development of limbs and other ectodermal derived tissues [5].

The AEC Mutation exerts a selective dominant-negative function on wild-type p63 by affecting progenitor cell expansion during ectodermal development leading to a defective epidermal stem cell compartment [6]. All these disorders include combinations of ectodermal Dysplasia, orofacial clefting and limb malformations in variable severity [7]. In this study, we describe monozygotic Female twins concordant for ankyloblephaon, ectodermal Dysplasia and helical rim Deformities, but discordant for cleft, syndactyly of toes, Heart and urinary tract abnormalities [8]. Structural abnormalities included pili torti, pili trianguli et canaliculi, and irregular indentation and shallow grooves [9]. TP63 is important in the differentiation and proliferation of the epidermis, as well as many other processes including limb and facial development [10].

It is inherited in an Autosomal Dominant fashion with variable expression, featuring congenital abnormalities of skin, Hair, Teeth, nail, eccrine and mucous glands [11]. The majority of authors consider ankyloblepharon, ectodermal dysplasia and orofacial clefting as cardinal signs [12]. Histologic studies demonstrated mild basal Layer vacuolization and rare dyskeratotic keratinocytes, with evidence of both Acantholysis and cytolysis at the blister edge [13].

References: 1 , 2 , 3 , 4 , 5 , 6 , 7 , 8 , 9 , 10 , 11 , 12 , 13 ,

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