title: A newborn with overlapping features of AEC and EEC syndromes.
abstract: Ectrodactyly, ectodermal dysplasia, clefting (EEC) syndrome is the prototype of several p63 conditions, which include ankyloblepharon, ectodermal dysplasia, clefting (AEC) syndrome, limb-mammary syndrome (LMS), Rapp-Hodgkin syndrome (RHS), ADULT syndrome, and others. All these disorders include combinations of ectodermal dysplasia, orofacial clefting and limb malformations in variable severity. A newborn patient is presented with diffuse erythematous and desquamating skin lesions and anal atresia. She also had sparse and lightly colored thin hair, deeply set eyes, hypoplastic alae nasi, and a short philtrum. Cleft lip/palate and ankyloblepharon were not present. Complete cutaneous syndactyly was present on both hands in between the third and fourth fingers. Mild ectrodactyly was evident on all four extremities in between first and second digits. There was post-axial polydactyly on both feet. Anal atresia was present and defecation occurred through a rectovaginal fistula. The patient represented an interesting overlapping clinical condition between AEC and EEC syndromes. Diffuse skin lesions with excoriation and desquamation suggest AEC syndrome, despite the absence of ankyloblepharon, however; ectrodactyly and polydactyly strongly suggest the EEC syndrome. C308Y mutation in exon 8 of TP63 gene was detected, which was previously described to lead only to EEC syndrome and not to any of the other allelic conditions. These data emphasize the large degree of clinical variability that may be seen for specific TP63 mutations.
authors: Neonatology Unit, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey. htcelik@yahoo.com
authors: Tolga Hasan
authors: TH
authors: Celik
authors: Ayse
authors: A
authors: Buyukcam
authors: Pelin Ozlem
authors: PO
authors: Simsek-Kiper
authors: Gulen Eda
authors: GE
authors: Utine
authors: Sibel
authors: S
authors: Ersoy-Evans
authors: Ayse
authors: A
authors: Korkmaz
authors: Helger G
authors: HG
authors: Yntema
authors: Koray
authors: K
authors: Bodugroglu
authors: Murat
authors: M
authors: Yurdakok
mesh_terms: D019943:Amino Acid Substitution; D002971:Cleft Lip / Q000175:diagnosis* / Q000235:genetics; D002972:Cleft Palate / Q000175:diagnosis* / Q000235:genetics; D004476:Ectodermal Dysplasia / Q000175:diagnosis* / Q000235:genetics; D005124:Eye Abnormalities / Q000175:diagnosis* / Q000235:genetics; D005143:Eyelids / Q000002:abnormalities; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation; D010641:Phenotype; D014157:Transcription Factors / Q000235:genetics; D025521:Tumor Suppressor Proteins / Q000235:genetics
chemical_list: C115051:TP63 protein, human; D014157:Transcription Factors; D025521:Tumor Suppressor Proteins