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PubMed1993

[Familial ectodermal dysplasia with agenesis of the breasts and the external urethral sphincter. Description of a case].

The Authors report a case of athelia and amastia observed in a 28-year-old woman. The association of severe dental alterations, nail dystrophies and irregular cutaneous hyperpigmentation with normal sweating, make it possible to catalogue the anomaly in the hydrotic ectodermal dysplasia, an autosomal dominant hereditary disease. The syndrome, transmitted by the father, is also present in two brothers of the patient: the association of sphincter urethrae agenesis, responsible for urinary incontinence unsuccessful treated with two surgical operations, is to be considered quite fortuitous.

Abnormalities, Multiple↗
PubMed1983

Evidence from thiol histochemistry for homology between the Tabby-crinkled syndrome in mice and human ectodermal dysplasia.

Mutant mice carrying the sex-linked gene Tabby (Ta), and others carrying crinkled (cr), an autosomal mimic of Ta, were studied histochemically with respect to the sulfhydryl: disulfide ratios in their skin and hair and the SH levels in their tooth germs. As compared to normal controls, the mutant animals demonstrated significantly elevated SH:S-S ratios (skin and hair) and SH levels (tooth germs) in the ectodermal components of these tissues. This finding corresponds with previously reported biochemical data on a form of human ectodermal dysplasia (ED), and therefore supports the hypothesis that these mutations in mice may be homologous to the genes for human ED.

Animals↗
PubMed2005

A point mutation in NEMO associated with anhidrotic ectodermal dysplasia with immunodeficiency pathology results in destabilization of the oligomer and reduces lipopolysaccharide- and tumor necrosis factor-mediated NF-kappa B activation.

The NEMO (NF-kappaB essential modulator) protein plays a crucial role in the canonical NF-kappaB pathway as the regulatory component of the IKK (IkappaB kinase) complex. The human disease anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) has been recently linked to mutations in NEMO. We investigated the effect of an alanine to glycine substitution found in the NEMO polypeptide of an EDA-ID patient. This pathogenic mutation is located within the minimal oligomerization domain of the protein, which is required for the IKK activation in response to diverse stimuli. The mutation does not dramatically change the native-like state of the trimer, but temperature-induced unfolding studied by circular dichroism showed that it leads to an important loss in the oligomer stability. Furthermore, fluorescence studies showed that the tyrosine located in the adjacent zinc finger domain, which is possibly required for NEMO ubiquitination, exhibits an alteration in its spectral properties. This is probably due to a conformational change of this domain, providing evidence for a close interaction between the oligomerization domain and the zinc finger. In addition, functional complementation assays using NEMO-deficient pre-B and T lymphocytes showed that the pathogenic mutation reduced TNF-alpha and LPS-induced NF-kappaB activation by altering the assembly of the IKK complex. Altogether, our findings provide understanding as to how a single point mutation in NEMO leads to the observed EDA-ID phenotype in relation to the NEMO-dependent mechanism of IKK activation.

Amino Acid Sequence↗
PubMed2005

Dlx genes, p63, and ectodermal dysplasias.

Many events in vertebrate morphogenesis and organogenesis develop from epithelial/mesenchymal interactions. These processes involve a series of sequential and reciprocal interactions between the thickened epithelial sheets and underlying mesenchymal cells. Much has been learned from in vitro assays and knockout experiments in mice on the early signaling molecules that regulate the initial stages of the epithelial/mesenchymal interactions. In this review, we discuss effectors of these initial signals, specifically the p63 and Dlx families of transcription factors, that play central roles in embryonic patterning and regulation of different developmental processes, and provide a review of some of the mutations in these genes that have been associated with ectodermal dysplasias (EDs).

Animals↗
PubMed2001

Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia.

The gene that encodes nuclear factor kappaB (NF-kappaB) essential modulator (or NEMO, also known as IKKgamma) is required for activation of the transcription factor NF-kappaB. We describe mutations in the putative zinc-finger domain of NEMO that result in an X-linked primary immunodeficiency characterized by hyper-IgM syndrome and hypohydrotic ectodermal dysplasia (XHM-ED). These mutations prevent CD40 ligand (CD40L)-mediated degradation of inhibitor of NF-kappaB alpha (IkappaB-alpha) and account for the following observations: B cells from XHM-ED patients are unable to undergo immunoglobulin class-switch recombination and antigen-presenting cells (APCs) are unable to synthesize the NF-kappaB-regulated cytokines interleukin 12 (IL-12) or tumor necrosis factor alpha (TNF-alpha) when stimulated with CD40L. Nevertheless, innate immunity is preserved in XHM-ED patients because APCs retain the capacity to respond to stimulation by lipopolysaccharide or Staphylococcus aureus Cowan's antigen (SAC). Overall, the phenotype observed in XHM-ED patients shows that the putative zinc-finger domain of NEMO has a regulatory function and demonstrates the definite requirement of CD40-mediated NF-kappaB activation for B cell immunoglobulin class-switching.

Adolescent↗
PubMed1980

Ectodermal dysplasia and abnormal thumbs.

Two unrelated children, a girl and a boy, with alopecia, anomalous cutaneous pigmentation, abnormal thumbs, and endocrine disorders, including short stature and delayed bone age in one patient and juvenile onset diabetes mellitus in the other, are described. In one instance, the mother and the maternal grandmother had similar abnormalities, although of a less severe nature. Both children had normal nails and no unusual susceptibility to infections. We believe these two patients represent a previously undescribed syndrome of ectodermal dysplasia that may be inherited as an autosomal-dominant trait.

Alopecia↗
PubMed1988

A new form of hypohidrotic ectodermal dysplasia.

We report on a 17-yr-old young woman with an apparently new tricho-onycho-hypohidrotic ectodermal dysplasia. The manifestations include primary interdigital webbing, contractures of fingers and toes, conjunctivitis from narrowing of nasolacrimal ducts, and a small cortical opacity in the lens of the left eye. Psychosocial problems due to the cosmetic appearance are severe. Cause is uncertain.

Abnormalities, Multiple↗
PubMed1985

Uncombable hair syndrome: observations on response to biotin and occurrence in siblings with ectodermal dysplasia.

Three children are reported with uncombable hair syndrome, consisting of slow-growing, straw-colored scalp hair that could not be combed flat. The hairs appeared normal on light microscopy but on scanning electron microscopy were triangular in cross section, with canal-like longitudinal depressions. Oral biotin, 0.3 mg three times a day, produced significant improvement after 4 months in one patient, with increased growth rate and with strength and combability of the hair, although the triangular shape remained. The other two patients were unique in having associated ectodermal dysplasia. Their hair slowly improved in appearance and combability over 5 years without biotin therapy.

Biotin↗