Browsing by Subject "ectodermal dysplasia"

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    Ectodermal dysplasia showing clinical overlap between AEC, Rapp-Hodgkin and CHAND syndromes
    (2004) Sahin M.T.; Türel-Ermertcan A.; Chan I.; McGrath J.A.; Öztürkcan S.
    The 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.
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    Quality of life in children with dermatological diseases; [Çocuklarda dermatolojik hastaliklarda yaşam kalitesi]
    (Istanbul Assoc. of Dermatology and Venerology, 2014) Bilaç C.; Bilaç Ö.; Öztürkcan S.
    Quality of life is a multidimensional measure that, besides personal health status, reflects personal well-being as well. A number of quality of life scales for children and adolescents have been developed. The measurement of quality of life in children is different from measuring quality of life of adults. Knowledge of the this difference related to child development stages is important for researchers who improve and use the quality of life scales. Most studied have been performed on the quality of life in children with dermatological diseases, such as atopic dermatitis and psoriasis, as well as alopecia areata, dermatomyositis, ectodermal dysplasia, photosensitivity disorders, molluscum contagiosum, neurofibromatosis, and vitiligo. In this paper, we reviewed the literature on the quality of life in children with dermatologic diseases.