Advances in Clinical and Experimental Medicine

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Advances in Clinical and Experimental Medicine

2010, vol. 19, nr 2, March-April, p. 257–269

Publication type: review article

Language: English

Molecular Background of Ectodermal Dysplasia

Molekularne podłoże dysplazji ektodermalnej

Janina Szeląg1,, Anna Sadakierska-Chudy2,, Jan Łyczek3,, Anna Paradowska1,

1 Division of Facial Anomalies, Department of Dentofacial Orthopedics and Orthodontics, Wroclaw Medical University, Poland

2 Molecular Techniques Unit, Department of Forensic Medicine, Wroclaw Medical University, Poland

3 Student’s Scientific Association of Facial Anomalies, Wroclaw Medical University, Poland

Abstract

Ectodermal dysplasia is a disease of genetic background in which the main symptoms are anomalies of the teeth, hair, nails, and sweat glands. It occurs in 7/10,000 births and may be divided into 170 different syndromes. The main symptoms are weak thin hair, hypodontia and other dental anomalies, a small number of sweat glands, and malformation and weakening of nails. The most common type of the disease is hypohidrotic ectodermal dysplasia related to chromosome X, which is Christ-Siemens-Touraine syndrome.

Streszczenie

Dysplazja ektodermalna jest chorobą o etiologii genetycznej, której kluczowymi objawami są nieprawidłowości zębów, włosów, paznokci i gruczołów potowych. Do schorzeń typu dysplazji zalicza się ponad 170 jednostek chorobowych wspólnie występujących z częstością 7/10 000 urodzeń. Objawami dysplazji ektodermalnej są osłabione i cienkie włosy, hipodoncja i zniekształcenia zębów, zmniejszenie liczby gruczołów potowych oraz zniekształcenie i osłabienie paznokci. Najczęściej występującym typem schorzenia jest hipohydrotyczna dysplazja ektodermalna sprzężona z chromosomem X, czyli zespół Christ-Siemens-Touraine.

Key words

ectodermal dysplasia, gene, mutation, transcription factors, X-linked disease

Słowa kluczowe

dysplazja ektodermalna, gen, mutacja, czynniki transkrypcyjne, choroba sprzężona z chromosomem X

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