Ectodermal dysplasia showing clinical overlap between AEC, Rapp-Hodgkin and CHAND syndromes

Clinical and Experimental Dermatology
M T SahinS Oztürkcan

Abstract

The ectodermal dysplasias represent a complex collection of congenital abnormalities of skin, hair, teeth, nail, and sweat gland development, many of which have overlapping clinical features. In this report, we describe a 7-year-old girl, born to clinically normal parents, with ankyloblepharon, cleft lip/palate and hair abnormalities, features resembling the autosomal dominant disorder, ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome, which results from mutations in the sterile-alpha motif domain of the gene encoding the transcription factor, p63. However, direct sequencing of the p63 gene in this individual did not reveal any pathogenic sequence variants. Moreover, two of her paternal cousins were discovered to have similar congenital ectodermal anomalies, raising the alternative possibility of an autosomal recessive pattern of inheritance. Furthermore, all affected individuals lacked a history of erosive scalp dermatitis that is usually characteristic of AEC syndrome. Instead, the scalp hair was coarse and wiry. In addition, another atypical feature, hypohidrosis, was present. Collectively, the clinical features also resembled Rapp-Hodgkin syndrome, Bowen-Armstrong syndrome and CHAND syndrome, but did not appear ...Continue Reading

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Citations

Nov 17, 2011·Pediatric Dermatology·Stefanie A HiranoDavid M Pariser
May 5, 2007·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·David S CabilingRichard E Kirschner
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Oct 4, 2007·Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG·Natalie Garcia BartelsUlrike Blume-Peytavi
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Oct 4, 2005·Journal of the American Academy of Dermatology·Sung-Wook ParkJerry Shapiro
Jul 2, 2015·American Journal of Medical Genetics. Part a·Benjamin GollaschRegina C Betz
Dec 4, 2009·The Journal of Clinical Pediatric Dentistry·Gul Tosun, Ulku Elbay

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