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At least 1,189 records · Page 66Linked to original sources
PubMed2003

Ectodysplasin receptor-mediated signaling is essential for embryonic submandibular salivary gland development.

Hypohidrotic (anhidrotic) ectodermal dysplasia (HED), the most common of the approximately 150 described ectodermal dysplasias, is a disorder characterized by abnormal hair, teeth, sweat glands, and salivary glands. Mutations in the EDA (ectodysplasin-A) and EDAR (ectodysplasin-A receptor) genes are responsible for X-linked and autosomal HED, respectively. Abnormal phenotypes similar to HED are seen in Tabby (Eda(Ta)) and downless (Edar(dl)) mutant mice. Although recent studies have focused on the role of Eda/Edar signaling during hair and tooth development, very little is known about its role during embryonic submandibular salivary gland (SMG) development. To this end, we analyzed the SMG phenotypes in Tabby (Ta) and downless (dl) mutant mice and determined that Ta SMGs are hypoplastic, whereas dl SMGs are severely dysplastic. The absence of SMG ducts and acini in dl SMGs suggests that Eda/Edar signaling is essential for lumina formation and glandular histodifferentiation. Our localization of Eda and Edar proteins at sites of lumen and acini formation supports this conclusion. Moreover, the presence of SMGs in both Ta and dl mutant mice, as well as the absence of immunodetectable Eda and Edar protein in Initial Bud and Early Pseudoglandular stage SMGs, indicate that Eda/Edar-mediated signaling is important for branching morphogenesis and histodifferentiation, but not for initial gland formation. To initially delineate the morphoregulatory role of Eda/Edar-mediated signaling during embryonic SMG development, we cultured embryonic day 14 SMGs with enhanced or abrogated Eda/Edar signaling. Eda supplementation induced a significant increase in SMG branching, and enhanced activation of NF-kappaB. Abrogating Eda/Edar signaling by adding the soluble form of Edar to bind endogenous ligand in embryonic SMGs results in a significant dose-dependent decrease in branching morphogenesis. Taken together, our results suggest that the Eda/Edar/NF-kappaB pathway exerts its effect on SMG epithelial cell proliferation, lumina formation, and histodifferentiation.

Animals↗
PubMedDate not supplied

[The structure of the facial skeleton in children and adolescents with multiple anodontia].

Analysis of 1516 orthopantomograms of the jaws has revealed hypodontia in 256 (16.88%) cases, in 119 (46.48%) of these more than 10 permanent teeth were missing. A total of 182 lateral teleroentgenograms of the head were analyzed, recorded in 63 subjects with orthognathic occlusion, in 85 ones with abnormal occlusion due to hypodontia, and in 34 ones with hypodontia combined with anhidrotic ectodermal dysplasia. Typical disorders of facial skeleton structure in hypodontia and anhidrotic ectodermal dysplasia were defined with due consideration for the period of occlusion formation.

Adolescent↗
PubMed1989

Choanal atresia as a feature of ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome.

We report here a father and daughter with digital abnormalities, nasolacrimal duct obstruction, and variable alopecia. The father had a cleft lip and palate and the daughter had choanal atresia. We propose they both have the EEC syndrome and show the variable expressivity of this disorder. Choanal atresia has not been previously reported in this condition.

Choanal Atresia↗
PubMed1990

Anodontia as the sole clinical sign of the ectrodactyly-ectodermal dysplasia-cleft lip (EEC) syndrome.

In this report we present another family with oligosymptomatic expression of the EEC syndrome. A mother with complete absence of the permanent teeth had two children with split hand/split foot deformity, as typically seen in the EEC syndrome. Cleft lip/cleft palate was also present in one of them. The great variability in expression of this autosomal dominant syndrome is discussed and the difficulties in genetic counseling are emphasized.

Adult↗
PubMed1977

[Ectodermal anhidrotic dysplasia (author's transl)].

The E. A. D. is a genodermatosis characterised by absence or important diminuation of sweat glands. The study of 3 children of different families allows us to identify the diagnostic elements: typical facial signs, anhidrosis, rarity of teeth "buds", abnormalities of dermatoglyphes. This diagnosis must be established early, to protect the newborn from accidents of overheating caused by perspiration insufficiency. The sweat glands are not affected alone: exocrine glands also, explaining the fragility of the upper respiratory tract in such patients. The teeth abnormalities are important and need replacement by false teeth, carefully done at an early date and continued later on. Genetic investigation is indispensable to discover women who carry the disease, with a high risk of transmission to their children.

Child, Preschool↗
PubMedDate not supplied

Otodental syndrome.

Otodental dysplasia, a form of ectodermal dysplasia, is characterized by abnormal dental crown morphology and sensorineural hearing loss. A variety of dental abnormalities are prominent features of this syndrome--most notably gigantic, bulbous posterior teeth. In this case, a sibling is identifies in a family with otodental syndrome that had been diagnosed earlier. A unique opportunity is provided to view the intact adult dentition and possible complications for dental treatment.

Adolescent↗
PubMed1988

Congenital atrichia with nail dystrophy, abnormal facies, and retarded psychomotor development in two siblings: a new autosomal recessive syndrome?

We cared for two sisters, ages 3 and 4 years, who suffered from congenital atrichia. Scalp biopsies performed on both children revealed a marked atrophy of hair follicles with rudimentary hair shafts. The absence of peribulbar infiltrates ruled out alopecia areata. Dystrophy of all nails, distinctive facies, retarded psychomotor development, and a delay in speaking were additional symptoms. The unique combination of findings excludes well-established syndromes such as atrichia with papular lesions, GAPO syndrome, and dominant hidrotic ectodermal dysplasia, as well as X-linked hypohidrotic ectodermal dysplasia. We therefore conclude that we may be dealing with a new genetic entity. The occurrence of the disorder in two siblings with unaffected parents suggests an autosomal recessive mode of inheritance.

Alopecia↗
PubMed2005

[Anhidrotic ectomermal dysplasia (AED): four cases].

INTRODUCTION: Anhidrotic ectodermal dysplasia (AED) or Christ-Siemens-Touraine syndrome is a rare, hereditary genodermatosis, classically X-linked recessive disorder. MATERIAL AND METHODS: [corrected] We report the cases of 3 children and a male adult. RESULTS: The mode of diagnosis, the clinical signs and the therapeutic option are detailed. DISCUSSION: AED is characterized by a malformative state derived from the ectodermal layer of the embryo which results in the triad: anhidrosis (or hypohidrosis), hypotrichosis, anodontia (or hypodontia). Hypohidrosis causes thermoregulation disorders, which in the infant, can be life threatening. It is important to recognize the affection early to avoid accidents of hyperthermia. Once the diagnosis is established, family investigations are necessary to determine whether it is a family form or a new sporadic case. Carrier mothers must be informed of the high risk recurrence for future male infants. Symptomatic maxillo-facial treatment strives to improve masticatory function and facial growth and thus limit the psychological impact and improve patient comfort.

Adult↗
PubMed2002

The EDA gene is a target of, but does not regulate Wnt signaling.

Lesions in the anhidrotic ectodermal dysplasia (EDA) gene cause the recessive human genetic disorder X-linked anhidrotic ectodermal dysplasia, which is characterized by the poor development of ectoderm-derived structures. Ectodysplasin-A, the protein encoded by the EDA gene, is a member of the tumor necrosis factor ligand superfamily that forms a collagen triple helix, suggesting functions in signal transduction and cell adhesion. In an effort to elucidate the function of EDA in pathways regulating ectodermal development, we have analyzed promoter elements of the gene. We show here that a binding site for the lymphocyte enhancer factor 1 (Lef-1) transcription factor is active. In electrophoretic mobility shift assays, Lef-1 specifically bound to its site in the EDA promoter. Over-expression of both Lef-1 and beta-catenin significantly increased EDA transcription in co-transfection studies. In addition, indirect stabilization of endogenous beta-catenin stimulated EDA transcription 4- to 13-fold. This is the first direct evidence of a relationship between EDA and the Wnt pathway. We have also investigated whether EDA might function in a feedback loop to modulate Wnt signaling. Over-expression of EDA neither stimulated basal transcription of Wnt-dependent genes, nor inhibited Wnt-dependent activation of transcription. Taken together, our results demonstrate that Wnt signaling does control EDA gene expression, but ectodysplasin-A does not feedback on the Wnt pathway.

Animals↗
PubMed2007

p63-associated disorders.

Heterozygous mutations in the transcription factor gene p63 are causative for several syndromes, with ectodermal dysplasia, orofacial clefting and limb malformations as the key characteristics. Different combinations of these features are seen in five different syndromes, of which ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome (EEC) is the most common one. Mutations in p63 can also cause non-syndromic single malformations, such as split hand foot malformation (SHFM4) and isolated cleft lip (NSCL). In this article we will present an overview of diseases caused by mutations in the p63 gene and review the known pathogenic p63 gene mutations.

Cleft Lip↗
PubMed2000

[Pigmentosum retinis and tubulo-interstitial nephronophtisis in Sensenbrenner syndrome: a case report].

PURPOSE: Sensenbrenner syndrome or cranio-ectodermal dysplasia is an extremely rare autosomal recessive condition (12 cases reported in literature). Our observation shows the possibility of both ocular and renal involvement associated with cranio-ectodermal abnormalities. PATIENTS: and method:We report the case of a girl who presented a typical cranio-ectodermal syndrome with dolicocephaly, short thorax, short limbs, short fingers and teeth abnormalities. At five years, she was found to have pigmentosum retinitis with amblyopy and moderate hyperopia. A chronic renal failure with uncontrollable hypertension underwent a cadaveric-donor transplantation at the age of six years. RESULTS: Two years later, the pigmentosum retinitis was stable. The kidney histology revealed a tubulo-interstitial nephronophtisis. The molecular analysis of the NPH 1 locus, which was associated with nephronophtisis, was negative. DISCUSSION: Our observation and two recent publications have in common ocular and renal abnormalities associated with cranio-ectodermal dysplasia. The underlying genetic defect would involve not only morphogenesis but also development and maturation of organs as eye and kidney. Sensenbrenner syndrome would thus be similar to certain disorders affecting the eye, kidney, skeleton and ectodermal structures such as the EEM, Senior-Loken, Mainzer-Saldino, and Jeune syndromes. CONCLUSION: The retinal dystrophy falls within the spectrum of clinical and genetic forms of pigmentosum retinitis. Our observation would confirm possible links between Sensenbrenner syndrome and oculorenal syndromes.

Abnormalities, Multiple↗
PubMedDate not supplied

Dentocraniofacial structure with complete anodontia of permanent teeth: report of case.

Dentocraniofacial structure with ectodermal dysplasia, showing complete anodontia of permanent teeth, was examined. Except for a slight decrease of the sweat pore count, the patient was free of signs of ectodermal dysplasia, other than odontoplasia. Furthermore, her family history had no record of hypodontia or anodontia. We attempted to clarify the role of tooth growth in the dentocraniofacial development. Cephalometric analyses revealed the extreme limitation of the maxillary and vertical growth of the lower face, and a retracted mandibular alveolus front. We concluded that the role of tooth growth was significant in the development of the maxillary and alveolar bone, but not in the development of the mandible.

Anodontia↗