Displasias ectodérmicas: revisión clínica y molecular

Abstract

The ectodermal dysplasias are a large group of hereditary disorders characterized by alterations of structures of ectodermal origin. Although some syndromes can have specific features, many of them share common clinical characteristics. Two main groups of ectodermal dysplasias can be distinguished. One group is characterized by aplasia or hypoplasia of ectodermal tissues, which fail to develop and differentiate because of a lack of reciprocal signaling between ectoderm and mesoderm, the other has palmoplantar keratoderma as its most striking feature, with additional manifestations when other highly specialized epithelia are also involved. In recent decades, the genes responsible for at least 30 different types of ectodermal dysplasia have been identified, throwing light on the pathogenic mechanisms involved and their correlation with clinical findings.

Clouston Syndrome: 25-year follow-up of a patient

“…6 Changes in gene GJB6 , located in chromosome 13 (locus 13q11-q12) are responsible for the syndrome, since the gene is involved in the differentiation and growth of keratinocytes. 9 This gene codifies the cell-junction protein, connexin 30, a transmembrane protein which facilitates intercellular communication and is present in the stratum corneum, sweat glands and hair follicles. Connexins have an essential role in the control of cellular growth and development, besides responding to several stimuli.…”

“…Connexins have an essential role in the control of cellular growth and development, besides responding to several stimuli. 5 , 9 …”

A Turkish family with Clouston syndrome caused by G11R mutation in GJB6

“…Otozomal dominant kalıtımda gözlenebilen değişken ifade özelliğinden dolayı klinik seyir aynı aile içinde bile oldukça değişkenlik gösterebilmektedir. Ektodermal displazilerdeki patojenik mekanizmalar göz önünde bulundurularak yapılan sınıflandırmaya göre iki grup tanımlanmıştır: Grup 1 ve grup 2. grup 2' de yer alan hastalıklarda ektoderm ve mezenkim arasındaki etkileşimler ve epidermal türevlerinin farklılaşması normal iken doku homeostazında ve büyümesinde rol alan hücre zarındaki yapısal proteinlerde anormallikler mevcuttur böylelikle displazi ektoderm türevlerinde oluşmaktadır 3 . CS'nin hücre-hücre iletişimi ve sinyal iletiminde yer alan konneksin 30 (Cx30/gap junction (GJ) protein β6) proteinini kodlayan GJB6 genindeki mutasyonlardan kaynaklandığının ortaya konması sebebiyle grup 2'ye dahil edilmiştir 4 .…”

A Nonsense Mutation in the IKBKG Gene in Mares with Incontinentia Pigmenti

“…Approximatively 200 different conditions of ED are known in humans. [1]–[3]. Outside humans, spontaneous forms of EDs have been reported extensively in cattle [4]–[7] and dogs [8]–[10].…”

“…There are more than 30 genes associated with EDs. Many of these genes are in the ectodyplasin, NFκB, and WNT pathways [1]–[3], [11], [12]. The NFκB family comprises transcription factors involved in the regulation of diverse cellular processes, including inflammation, innate/adaptive immunity, and cell survival during development [13].…”