Ankyloblepharon-ectodermal dysplasia-clefting syndrome misdiagnosed as epidermolysis bullosa and congenital ichthyosiform erythroderma: Case report and review of published work

The Journal of Dermatology
Zhen ZhangZhirong Yao

Abstract

A Chinese female infant presented with ectodermal dysplasia, cleft palate and severe skin erosions at birth. Although all the typical clinical features of ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome were present, the ankyloblepharon was not very marked. We misdiagnosed epidermolysis bullosa and congenital ichthyosiform erythroderma at first and confirmed the diagnosis of AEC syndrome only when she presented with the typical clinical manifestation of recurrent infected scalp erosions at 1 year of age. Mutation analysis of exon 13 of the p63 gene revealed a missense mutation Ile482Thr (c.1445T>C) in the sterile alpha motive domain. In this work we review the clinical features, differential diagnosis and prognosis in AEC syndrome.

References

Dec 21, 2005·Archives of Dermatology·Elaine SiegfriedVirginia P Sybert
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Nov 16, 2013·Saudi Journal of Kidney Diseases and Transplantation : an Official Publication of the Saudi Center for Organ Transplantation, Saudi Arabia·Dhanya MohanMona Alrukhaimi
Mar 26, 2014·American Journal of Medical Genetics. Part a·Peter J KochMaranke I Koster
Apr 29, 2014·Anais Brasileiros De Dermatologia·Guida Santos, Lourdes Sousa
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Feb 24, 2017·The Journal of Craniofacial Surgery·Siyuan GuoLinfeng Chen
Jan 18, 2018·Proceedings of the National Academy of Sciences of the United States of America·Claudia RussoCaterina Missero

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Citations

Sep 13, 2020·Journal of Cell Science·Matthew L FisherAlea A Mills
Aug 24, 2021·Frontiers in Genetics·Peter J Koch, Maranke I Koster

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