Ankyloblepharon-ectodermal dysplasia-clefting syndrome misdiagnosed as epidermolysis bullosa and congenital ichthyosiform erythroderma: Case report and review of published work.
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.
['Zhang|Zhen|Z|https://orcid.org/0000-0003-1344-9272', 'Cheng|Ruhong|R|', 'Liang|Jianying|J|https://orcid.org/0000-0002-6311-510X', 'Lu|Zhiyong|Z|', 'Wang|Yirong|Y|', 'Li|Ming|M|', 'Yu|Hong|H|', 'Yao|Zhirong|Z|https://orcid.org/0000-0001-5338-6304']
D001706:Biopsy D002971:Cleft Lip D002972:Cleft Palate D003951:Diagnostic Errors D004476:Ectodermal Dysplasia D004820:Epidermolysis Bullosa D005124:Eye Abnormalities D005143:Eyelids D005260:Female D005820:Genetic Testing D006579:Heterozygote D006801:Humans D016113:Ichthyosiform Erythroderma, Congenital D007230:Infant, Low Birth Weight D007231:Infant, Newborn D007234:Infant, Premature D020125:Mutation, Missense D012867:Skin D014157:Transcription Factors D025521:Tumor Suppressor Proteins
ankyloblepharon-ectodermal dysplasia-clefting syndrome ectodermal dysplasia cleft palate p63 gene Hay-Wells syndrome