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At least 1,243 records · Page 69Linked to original sources
PubMed1995

Sporadic trichodental dysplasia with microcephaly and mental retardation.

Trichodental syndrome is a rare autosomal dominant ectodermal dysplasia. Hair and dental anomalies have been found in different combinations in most affected persons in three families. The features of trichodental syndrome were observed in a young female in which sparse, fine, lustreless and slow growing hairs were associated with bigeminismus of inferior lateral incisors. Ultrastructural hair analysis showed consistent variation in contour of the shaft and reduced to absent cuticular scale. Distinguishing features in this patient were microcephaly and mild mental retardation.

Child, Preschool↗
PubMed2005

The Ectodysplasin and NFkappaB signalling pathways in odontogenesis.

Hypohidrotic ectodermal dysplasia (HED) is a congenital disorder affecting organs of ectodermal origin including teeth, hair and sweat glands. Defects in Ectodysplasin (tabby), Edar (downless) and Edar associated death domain (Edaradd) (crinkled) cause HED in both humans and mice. Ectodysplasin is a tumour necrosis factor (TNF) superfamily member whose downstream signalling is transduced by the inhibitor of kappaB kinase (IKK) complex and inhibitors of kappaB (IkappaB) to activate the transcription factor NFkappaB. NFkappaB signalling is involved in a wide range of cellular processes and at each stage the different family members must be tightly regulated for each function. Recent data have demonstrated the importance of this signalling pathway in odontogenesis, particularly in the formation of cusps. Here we review recent advances in our understanding of Ectodysplasin/NFkappaB signalling in tooth development and in particular the central role of the IKK complex.

Animals↗
PubMed1999

Ectodysplasin is a collagenous trimeric type II membrane protein with a tumor necrosis factor-like domain and co-localizes with cytoskeletal structures at lateral and apical surfaces of cells.

Anhidrotic ectodermal dysplasia (EDA) is a human genetic disorder of impaired ectodermal appendage development. The EDA gene encodes isoforms of a novel transmembrane protein, ectodysplasin. The sequence of the longest isoform includes an interrupted collagenous domain of 19 Gly-X-Y repeats and a motif conserved in the tumor necrosis factor (TNF)-related ligand family. In order to understand better the function of the ectodysplasin protein molecule and its domains, we have studied the processing and localization of wild-type and mutated isoforms in transfected human fetal kidney 293 and monkey kidney COS-1 cells. Similar to other members of collagenous membrane proteins and members of TNF-related ligands, ectodysplasin is a type II membrane protein and it forms trimers. The membrane localization of ectodysplasin is asymmetrical: it is found on the apical and lateral surfaces of the cells where it co-localizes with cytoskeletal structures. The TNF-like motif and cysteines found near the C-terminus are necessary for correct transport to the cell membrane, but the intracellular and collagenous domains are not required for the localization pattern. Our results suggest that ectodysplasin is a new member in the TNF-related ligand family involved in the early epithelial-mesenchymal interaction that regulates ectodermal appendage formation.

Amino Acid Sequence↗
PubMedDate not supplied

Focal dermal hypoplasia (Goltz's syndrome) manifesting as condyloma acuminatum: report of a case and review of the literature.

A new case of Goltz's syndrome, focal dermal hypoplasia, is documented. The literature is reviewed. The composite individuality warrants considering Golt'z syndrome a separate syndrome in the ectodermal dysplasias. Caution against diagnosing "condyloma-like" lesions occurring in ectodermally dysplastic patients as condyloma acuminatum is urged. Neoplastic transformation and the tendency to recurrence after surgical exicision of the cutaneous angiofibromas pose a difficult problem in surgical management.

Abnormalities, Multiple↗
PubMed1998

Rapp-Hodgkin syndrome with palmoplantar keratoderma, glossy tongue, congenital absence of lingual frenum and of sublingual caruncles: newly recognized findings.

We report on a boy with Rapp-Hodgkin syndrome (RHS) or Rapp-Hodgkin ectodermal dysplasia. He had sparse, wiry, slow growing and uncombable hair, but no pili torti or pili canaliculi characteristic of RHS. He also had sparse eyelashes and eyebrows, and obstructed lacrimal puncta and epiphora. Bilateral bony external auditory canal stenosis led to hearing loss. The mouth was small with repaired bilateral cleft lip and palate. Oral manifestations included hypodontia, microdontia, unerupted mandibular premolars with well formed roots, large dental pulp spaces, enamel hypoplasia, multiple caries, glossy tongue, and congenital absence of lingual frenum and of sublingual caruncles including submandibular and sublingual salivary duct openings. Palmo-plantar keratoderma, unerupted premolars, congenital absence of lingual frenum, sublingual caruncles, glossy tongue, and pili canaliculi seen in the patient are newly recognized findings of this syndrome. Overlapping findings of RHS ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC), and ankyloblepharon-ectodermal defects-cleft lip and palate syndrome (AEC) are discussed.

Carbuncle↗
PubMed1983

[A patient with Ito's hypomelanosis, also called incontinentia pigmenti achromians].

A 2 1/2 year old mentally retarded Dutch boy, suffering from epilepsy, hydrocefalus, generalised hypotonia, degenerative signs of the eyes and teeth and characteristic pigment disturbances of the skin is described. The complete picture fits in the syndrome of Ito's hypomelanosis, also called incontinentia pigmenti achromians. This is a neurocutaneous syndrome or an ectodermal dysplasia.

Abnormalities, Multiple↗
PubMed2004

Dental implications of Tooth-Nail dysplasia (Witkop syndrome): a report of an affected family and an approach to dental management.

Tooth-Nail dysplasia is a rare genetic disorder, which is classified as an ectodermal dysplasia. Diagnostic differentiation from other conditions in this category is necessary for effective dental management and genetic counseling. The oro-dental and clinical manifestations of Tooth-Nail dysplasia in an affected male infant and his father are documented. Other family members have the condition and pedigree data are in keeping with autosomal dominant inheritance. A comprehensive approach to the dental management of an affected child is proposed.

Adult↗
PubMed1997

Expanded phenotype of cranioectodermal dysplasia (Sensenbrenner syndrome)

Cranioectodermal dysplasia (CED) is an autosomal recessive condition characterized by defects of ectoderm-derived structures and characteristic bone anomalies. We report on a 27-month-old Caucasian girl with CED, pre- and postnatal growth retardation, microcephaly, hypoplasia of the posterior corpus callosum, photophobia, and aberrant calcium homeostasis. Since new traits were encountered, we reviewed all reported patients and one unpublished case and compared the frequency rates of the individual manifestations. The findings present in all patients are dolichocephaly and rhizomelia. Ectodermal dysplasia manifestations are variable. Short thorax and heart defect are inconsistent. Previously unreported anomalies include growth deficiency, delayed psychomotor development, microcephaly, photophobia, and abnormal calcium homeostasis. These clinical manifestations may facilitate the diagnosis of this condition.

Adult↗
PubMedDate not supplied

Cranioectodermal dysplasia: a new patient with an inapparent, subtle phenotype.

Cranioectodermal dysplasia is a rare syndrome characterized by craniofacial and skeletal anomalies and ectodermal dysplasia. Life-threatening associated conditions (i.e., kidney failure and abnormal regulation of the parathyroid-bone axis) can also develop. We report a patient whose features are suggestive of an inapparent, subtle phenotype of the syndrome. The patient is a 4-year-old girl with only dolichocephaly and clinodactyly; microdontia, hypodontia, and taurodontia (i.e., cone-shaped teeth); anteverted nares, full cheeks, and everted lower lip; epicanthal folds, hypertelorism and hyperopia; and corpus callosum hypoplasia. She has no rhizomelic limb shortening or hair abnormalities. In view of the rarity of the cranioectodermal dysplasias, the variability of the phenotype, and the uncertain outcome of some previously described patients, we believe this inapparent, subtle case should reported to enable better understanding and treatment of this rare syndrome.

Bone and Bones↗
PubMed2004

Distribution and structure of dental enamel in incisors of Tabby mice.

OBJECTIVE: In Tabby mice, the Ta (EDA) gene is mutated. The resulting syndrome is homologous to hypohidrotic ectodermal dysplasia in humans. The Tabby phenotype is characterized by developmental defects of ectodermally derived structures. The teeth show aberrations in number, size and morphology. Dental enamel is a product of specialized epithelial cells, the ameloblasts. It was the aim of the present study to investigate the dental enamel phenotype in Tabby incisors, with emphasis on its distribution and structure. DESIGN: The incisors from five female Tabby and three female wild-type mice were sectioned and ground transversely, etched for 45s with 0.1% nitric acid, sputter-coated with gold-palladium, and observed in SEM. RESULTS: All measured dimensions were more variable in Tabby mice, as was the outline of the enamel-dentin junction. Maxillary incisors were wider in Tabby mice, while mandibular incisors were wider in wild-type mice. No significant difference in enamel thickness was observed. The enamel on the mesial aspect tended to extend further lingually in Tabby incisors in both jaws. On the lateral aspect, this tendency was only significant in mandibular incisors. The enamel-dentin junction often lacked the mesial concavity. Instances of hypoplastic enamel were observed. The complex mouse enamel structure was generally well preserved in Tabby mice, only few instances of aberrant structure were observed. CONCLUSIONS: It is suggested that the reciprocal expression pattern of Ta and Edar (the Ta ligand receptor gene) in outer and inner enamel epithelium, respectively, may influence the position of the enamel-cementum junction.

Animals↗
PubMed2001

Ectodysplasin is released by proteolytic shedding and binds to the EDAR protein.

Anhidrotic ectodermal dysplasia (EDA) is an X-linked disorder characterized by abnormal development of ectoderm and its appendices. The EDA gene encodes different isoforms of ectodysplasin, a transmembrane protein. The two longest isoforms, ectodysplasin-A1 and -A2, which differ by an insertion of two amino acids, are trimeric type II membrane proteins with an extracellular portion containing a short collagenous domain and a TNF ligand motif in the C-terminal region. We show that ectodysplasin is released from cells to the culture medium. Deletion constructs were used to localize the cleavage site and show that the putative recognition sequence of a furin-like enzyme is needed for the cleavage. Some EDA patients have missense mutations affecting this recognition sequence, suggesting that cleavage has biological significance in vivo. EDAR, a recently cloned member of the TNFR family and the product of the downless gene, is able to co-precipitate ectodysplasin, confirming that they form a ligand-receptor pair. In situ hybridization and immunostaining studies show that ectodysplasin and EDAR are expressed in adjacent or partially overlapping layers in the developing human skin. We conclude that as a soluble ligand, ectodysplasin is able to interact with EDAR and mediate signals needed for the development of ectodermal appendages.

Animals↗
PubMed1990

EEC syndrome: report on 20 new patients, clinical and genetic considerations.

We report on 20 Brazilian patients (11 sporadic and 9 familial cases) with the ectrodactyly, ectodermal dysplasia, clefting syndrome (EEC syndrome). Genetic aspects, clinical manifestations, and differential diagnosis of the syndromes involving ectodermal dysplasia/limb anomalies and cleft lip/palate are discussed.

Abnormalities, Multiple↗
PubMed1978

Congenital absence of teeth: a review with emphasis on inheritance patterns.

Congenital absence of teeth is a heritably phenomenon probably most often passed to each generation by an autosomal dominant pattern with incomplete penetrance and variable expressivity. Correlation of hypodontia with systemic disease leads to the hypothesis that this frequent dental anomaly may in some cases be a microform of systemic ectodermal dysplasia.

Anodontia↗
PubMedDate not supplied

Unusual impaction of inverted primary incisor: report of case.

A tooth that fails to erupt into a normal functional position by the time it normally should is considered impacted. Impactions of primary teeth are extremely rare, but when it does occur it usually involves the first and second molar. The purpose of this article is to present a case of a four-year-old patient with an impaction of an inverted primary mandibular incisor. On the basis of the patient's family history, the case might be considered as microform of ectodermal dysplasia.

Child, Preschool↗
PubMed1996

Absent meibomian glands: a marker for EEC syndrome.

A patient with a 20 year history of severe keratoconjunctivitis of unknown origin was found, on assessment at a blepharitis clinic, to have complete absence of meibomian glands. Further examination revealed the features of EEC syndrome. To our knowledge, this is the only case to have been diagnosed in this way. The ocular complications of EEC syndrome and other ectodermal dysplasias are reviewed.

Abnormalities, Multiple↗
PubMed1980

Trigeminal neuralgia due to dolichoectasia: angiographic and CT findings in a patient with the EEC syndrome.

Ectrodactyly (lobster claw deformity), ectodermal dysplasia and clefting of the lip or palate, the EEC syndrome, is a rare genetic disorder involving both mesodermal and ectodermal derivatives. Cerebral arterial dolichoectasia, a pathological dilatation and elongation of intracranial vessels, was found in a patient with the EEC syndrome. Her hypertensive cardiovascular disease, mild dementia and trigeminal neuralgia were all related to her dolichoectasia. Although the association of dolichoectasia has not been previously observed with the EEC syndrome, it may be more frequent than currently recognized. Cerebral arterial dolichoectasia and its attendant sequelae could account for some of the unexplained abnormalities described in other case reports of patients with the EEC syndrome.

Abnormalities, Multiple↗