Disease relevance of Ectodermal Dysplasia

• The NF-kappaB signalling pathway in human diseases: from incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromes [1].
• Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis are autosomal dominant ectodermal dysplasias characterized by the absence of dermatoglyphics, reticulate hyper pigmentation of the skin, hypohidrosis, and heat intolerance [2].
• The lifetime disease risk of approximately 1.4% in the general population is increased to more than 30% in autoimmune polyendocrinopathy candidiasis ectodermal dysplasia syndrome (APECED), a recessive condition resulting from a mutation of the autoimmune regulator (AIRE) gene on chromosome 21q22 [3].
• We report a 2-year-old male with aplasia cutis congenita of the scalp, epibulbar dermoids, strabismus and macrocephaly [4].
• Hypohidrotic ectodermal dysplasia (HED) is a very rare disease characterized by the virtual absence of eccrine glands, dry skin, scanty hair, and dental abnormalities [5].

High impact information on Ectodermal Dysplasia

• Boys with an expressed NEMO mutation have an X-linked syndrome characterized by hypohidrotic ectodermal dysplasia with immune deficiency (HED-ID) [6].
• TRAF6-deficient mice display hypohidrotic ectodermal dysplasia [7].
• Hypohidrotic ectodermal dysplasia (HED), a congenital disorder of teeth, hair, and eccrine sweat glands, is usually inherited as an X-linked recessive trait, although rarer autosomal dominant and recessive forms exist [8].
• X-linked hypohidrotic ectodermal dysplasia (XLHED), the most common of the ectodermal dysplasias, results in the abnormal development of teeth, hair, and eccrine sweat glands [9].
• Autosomal dominant hypohidrotic ectodermal dysplasia (ADHED) is a disorder characterized by fine, slow-growing scalp and body hair, sparse eyebrows and eyelashes, decreased sweating, hypodontia, and nail anomalies [10].

Chemical compound and disease context of Ectodermal Dysplasia

• Aplasia cutis congenita after exposure to methimazole: a causal relationship [11]?
• Aplasia cutis congenita of the scalp in an infant exposed to valproic acid in utero [12].
• Use of a water-vapour permeable polyurethane film (omiderm) in the non-surgical treatment of aplasia cutis congenita [13].

Biological context of Ectodermal Dysplasia

• In addition, as a consequence of transgene expression in other ectodermally derived epithelia, K5-GR mice exhibited further abnormalities that strikingly resemble the clinical findings in patients with ectodermal dysplasia, which includes aplasia cutis congenita [14].
• X-linked ectodermal dysplasia receptor (XEDAR) is a recently isolated member of the tumor necrosis factor receptor family that is highly expressed during embryonic development and binds to ectodysplasin-A2 (EDA-A2) [15].
• Missense mutations in human K17 give rise to two dominantly inherited disorders apparented to ectodermal dysplasias, pachyonychia congenita (PC), and steatocystoma multiplex (SM) [16].
• To facilitate the identification of the gene responsible for Clouston hidrotic ectodermal dysplasia (HED), we used a chromosome 13-specific radiation hybrid panel to map 54 loci in the HED candidate region [17].
• Clouston hidrotic ectodermal dysplasia (HED): genetic homogeneity, presence of a founder effect in the French Canadian population and fine genetic mapping [18].

Anatomical context of Ectodermal Dysplasia

• X-linked and autosomal forms of anhidrotic ectodermal dysplasia syndromes (HED) are characterized by deficient development of several ectodermal organs, including hair, teeth and exocrine glands [19].
• We have restudied a fibroblast cell line from a female with marked manifestations of X linked hypohidrotic ectodermal dysplasia (HED) and a balanced X;9 translocation [20].
• We present a catastrophic case of aplasia cutis congenita from a pregnancy complicated by elevated maternal serum and amniotic fluid alpha-fetoprotein levels and a positive acetylcholinesterase [21].
• However, there remain questions concerning whether these drugs, especially methimazole (MMI), may be associated with aplasia cutis congenita (ACC) and how best to avoid impairment of fetal thyroid function during their use [22].

Gene context of Ectodermal Dysplasia

• Hypohydrotic Ectodermal Dysplasia (HED) is a genetic disease seen in humans and mice [23].
• Missense mutations in the closely related Cx30 gene GJB6 underlie Clouston syndrome (autosomal dominant hidrotic ectodermal dysplasia) [24].
• Mutations in Edar or other molecules of the same signaling pathway cause ectodermal dysplasias in humans and mice [25].
• A Sardinian kindred segregating for X-linked anhidrotic ectodermal dysplasia (AED), glucose-6-phosphate dehydrogenase (G6PD) deficiency of Mediterranean type, and Xga blood antigen provides evidence against a measurable linkage between the loci for AED and G6PD [26].
• BACKGROUND: Pachyonychia congenita (PC) is a group of autosomal dominant ectodermal dysplasias caused by mutations in four differentiation-specific keratin genes [27].

Analytical, diagnostic and therapeutic context of Ectodermal Dysplasia

• In this preliminary study, non-invasive infrared thermography has been used to visualize individual sweat pores and whole body skin temperature patterns in subjects with X-linked hypohidrotic ectodermal dysplasia (XHED) and normal controls [28].
• Differential diagnosis includes 3 other ectodermal dysplasias: hypodontia and nail dysgenesis, dermoodontodysplasia, and trichodermodysplasia with dental alterations [29].
• To illustrate the utility of this technique an example is cited from an ongoing study of hypohidrotic ectodermal dysplasia (HED) in which anthropometry reveals details of facial morphology overlooked in previous studies [30].
• In its fully manifest form, hypohidrotic ectodermal dysplasia (HED) leads to a typical dysmorphia of the face, referred to as "old man" facies [31].

References