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

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dc.contributor.authorSahin M.T.
dc.contributor.authorTürel-Ermertcan A.
dc.contributor.authorChan I.
dc.contributor.authorMcGrath J.A.
dc.contributor.authorÖztürkcan S.
dc.date.accessioned2024-07-22T08:24:15Z
dc.date.available2024-07-22T08:24:15Z
dc.date.issued2004
dc.description.abstractThe 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 to fit neatly with any one particular disorder. This case highlights the difficulties in trying to classify the ectodermal dysplasia syndromes on clinical features alone.
dc.identifier.DOI-ID10.1111/j.1365-2230.2004.01584.x
dc.identifier.issn03076938
dc.identifier.urihttp://akademikarsiv.cbu.edu.tr:4000/handle/123456789/19880
dc.language.isoEnglish
dc.subjectChild
dc.subjectCleft Lip
dc.subjectEctodermal Dysplasia
dc.subjectEyelids
dc.subjectFemale
dc.subjectHair
dc.subjectHumans
dc.subjectNails, Malformed
dc.subjectSyndrome
dc.subjectprotein p63
dc.subjecttranscription factor
dc.subjectanhidrosis
dc.subjectankyloblepharon
dc.subjectankyloblepharon ectodermal dysplasia clefting syndrome
dc.subjectarticle
dc.subjectautosomal dominant disorder
dc.subjectautosomal recessive disorder
dc.subjectbowen armstrong syndrome
dc.subjectcase report
dc.subjectCHAND syndrome
dc.subjectchild
dc.subjectcleft lip palate
dc.subjectclinical feature
dc.subjectcongenital disorder
dc.subjectcongenital skin disease
dc.subjectdermatitis
dc.subjectdisease classification
dc.subjectectodermal dysplasia
dc.subjecterosive scalp dermatitis
dc.subjecteyelid disease
dc.subjectfemale
dc.subjectgene
dc.subjectgene mutation
dc.subjectgene sequence
dc.subjecthuman
dc.subjecthuman cell
dc.subjectnail disease
dc.subjectp63 gene
dc.subjectpriority journal
dc.subjectrapp hodgkin syndrome
dc.subjectscalp
dc.subjectscalp hair
dc.subjectsweat gland disease
dc.subjecttooth disease
dc.titleEctodermal dysplasia showing clinical overlap between AEC, Rapp-Hodgkin and CHAND syndromes
dc.typeArticle

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