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.
Keywords:
Hay-Wells syndrome; ankyloblepharon-ectodermal dysplasia-clefting syndrome; cleft palate; ectodermal dysplasia; p63 gene.
© 2019 Japanese Dermatological Association.
MeSH terms
-
Biopsy
-
Cleft Lip / diagnosis*
-
Cleft Lip / genetics
-
Cleft Lip / pathology
-
Cleft Lip / therapy
-
Cleft Palate / diagnosis*
-
Cleft Palate / genetics
-
Cleft Palate / pathology
-
Cleft Palate / therapy
-
Diagnostic Errors*
-
Ectodermal Dysplasia / diagnosis*
-
Ectodermal Dysplasia / genetics
-
Ectodermal Dysplasia / pathology
-
Ectodermal Dysplasia / therapy
-
Epidermolysis Bullosa / diagnosis*
-
Epidermolysis Bullosa / pathology
-
Eye Abnormalities / diagnosis*
-
Eye Abnormalities / genetics
-
Eye Abnormalities / pathology
-
Eye Abnormalities / therapy
-
Eyelids / abnormalities*
-
Eyelids / pathology
-
Female
-
Genetic Testing
-
Heterozygote
-
Humans
-
Ichthyosiform Erythroderma, Congenital / diagnosis*
-
Ichthyosiform Erythroderma, Congenital / pathology
-
Infant, Low Birth Weight
-
Infant, Newborn
-
Infant, Premature
-
Mutation, Missense
-
Skin / pathology
-
Transcription Factors / genetics*
-
Tumor Suppressor Proteins / genetics*
Substances
-
TP63 protein, human
-
Transcription Factors
-
Tumor Suppressor Proteins