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At least 1,297 records · Page 72Linked to original sources
PubMed2005

Hypodontia--a retrospective review of prevalence and etiology. Part I.

A retrospective literature review was carried out to determine the prevalence of hypodontia and current knowledge of associated etiological factors. Reported studies vary widely in their reports of prevalence. The majority are retrospective radiographic studies, and reported rates vary from 2.6% to 11.3%. Racial differences have been determined: in Caucasian studies the mandibular second premolars and maxillary lateral incisors were the most frequently recorded absent and in Asian studies, the mandibular incisor was the most frequently recorded absent. Prevalence rates are higher in females compared to males (3:2, respectively). The association of hypodontia with other systemic conditions and dental anomalies is widely reported. Hypodontia can be regarded as a multifactorial condition. Recent developments in molecular genetics have established the importance of the muscle specific homeobox genes (Msx1 and Msx2) in dental development. Specific genes that are responsible for the more severe types of hypodontia, including ectodermal dysplasia, have been identified by linkage analysis. However, variable expression of the trait suggests a polygenic mode of inheritence with epistatic genes and environmental factors interacting.

Anodontia↗
PubMed1990

Two unusual congenital anomalies of the tricuspid valve.

We describe two unusual congenital anomalies of the tricuspid valve discovered incidentally at autopsy. One is an abnormal attachment of the tricuspid septal leaflet to one of two posterior papillary muscles with a concomitant fusion of the right ventricular septal and anterior papillary muscles in a patient with ectodermal dysplasia. The other involves a fenestration defect of the septal leaflet of the tricuspid valve in a patient with aortic stenosis, coronary artery atherosclerosis, and cardiac amyloidosis.

Adolescent↗
PubMed2004

Gastrointestinal and renal abnormalities in cardio-facio-cutaneous syndrome.

Cardio-facio-cutaneous syndrome (CFC) is an uncommon autosomal recessive condition recently distinguished from Noonan syndrome but with more marked growth failure and ectodermal dysplasia. Abdominal symptoms are frequently described but anatomic lesions in CFC have rarely been described. We have found significant anatomic abnormalities in CFC patients including antral foveolar hyperplasia, severe constipation with fecal impaction, nephrocalcinosis and renal cysts.

Abnormalities, Multiple↗
PubMed1983

Clouston syndrome: an ultrastructural study.

A previously undescribed French-Canadian family affected with Clouston Syndrome (Hypohidrotic Ectodermal Dysplasia) is described. Ultrastructural study of the hair shows disorganization of the hair fibrils with loss of the cuticular cortex. The SEM findings are consistent with the model, suggesting a biochemical defect in the keratin of the integumentary system.

Child↗
PubMed1986

Ectodermal defects and chronic mucocutaneous candidiasis in idiopathic hypoparathyroidism.

Idiopathic hypoparathyroidism is a rare disorder produced by parathyroid hormone deficiency of unknown cause. It is often associated with other endocrine abnormalities. Patients with idiopathic hypoparathyroidism frequently develop ectodermal disease, including dry, rough skin: coarse, brittle hair; and lusterless, distally split nails. All of these complaints are relatively common in a dermatologic practice. Chronic mucocutaneous candidiasis is also a manifestation of idiopathic hypoparathyroidism. A patient is presented with a prominent ectodermal dysplasia and a chronic mucocutaneous candidiasis that were due to the underlying idiopathic hypoparathyroidism. A brief review of idiopathic hypoparathyroidism is included, as well as the implications of this diagnosis in terms of differential diagnosis, associated endocrine disorders, and therapy.

Candidiasis↗
PubMed1992

Dental management of a child with EEC syndrome.

The EEC syndrome is a condition characterized by ectrodactyly, ectodermal dysplasia and clefting of the lip and/or palate. Here we report a case of a boy with the EEC syndrome. The clinical and radiologic aspects of this condition, as well as the dental treatment, are reviewed.

Abnormalities, Multiple↗
PubMed2005

Witkop tooth and nail syndrome: a case report.

Witkop tooth and nail syndrome is an autosomal dominant ectodermal dysplasia characterized by hypodontia and nail dysplasia. Mutations in MSX-1 have been identified as being involved in the syndrome. Mandibular incisors, secondary molars and maxillary canines are the most frequently missing teeth. Tooth shape may vary, and conical and narrow crowns are common. Nail dysplasia affects finger- and toenails, and is often more severe in childhood. Nails may be spoon-shaped, rigid, slow-growing and easily broken. The clinical and radiographic features of a mother and child presenting with this rare condition are described.

Adult↗
PubMed1984

Dyskeratosis congenita with pancytopenia and horseshoe kidney.

Dyskeratosis congenita is an X-linked ectodermal dysplasia characterized by hyperpigmentation, nail dystrophy, and leukoplakia. Pancytopenia develops in 50% of patients. We have reported another case with serious pancytopenia and the previously unreported occurrence of horseshoe kidney, and have discussed the similarities and differences between dyskeratosis congenita and Fanconi's anemia.

Adolescent↗
PubMed1994

Symptomatology of patients with oligodontia.

The aims of the present study were: (i) to identify the association of patterns of congenitally missing teeth with combinations of ectodermal symptoms occurring in patients with oligodontia; and (ii) to propose a diagnostic scheme for the general practitioner. For this study 167 patients with oligodontia, both isolated and as part of a syndrome, and 135 healthy controls were interviewed and documented. Chi-square tests, logistic regression and correspondence analysis were used to evaluate and test differences between the groups and associations between the congenitally missing teeth and ectodermal symptoms. No significant differences were found between the control group and the patients with isolated oligodontia with exception of the skin. It could be concluded from the present study that there were no clear associations between congenitally missing teeth, either individually or patterns, and the ectodermal symptoms or combinations of ectodermal symptoms. However, it could be concluded that if the most stable teeth are missing, or if the number of missing teeth is large the patient should be examined carefully for symptoms of ectodermal dysplasia. Using logistic regression a patient could be classified as having isolated oligodontia or oligodontia as part of a syndrome with a specificity and sensitivity of 88.2%.

Abnormalities, Multiple↗
PubMedDate not supplied

Lobster-claw hand: a manifestation of EEC syndrome.

The combination of ectrodactyly, ectodermal dysplasia, and cleft lip with or without cleft palate (EEC syndrome) is a rare type of congenital anomaly. It usually occurs as an autosomal-dominant trait or less commonly in a sporadic form. In this complex, multiple congenital anomaly syndrome, any of the three cardinal manifestations may present with variable expressions.

Adult↗
PubMed2001

Potential use of beards for single-follicle micrografts: convenient follicle-harvesting technique using an injection needle.

The authors developed a convenient hair-harvesting procedure using a disposable 18-gauge injection needle, which is common in every clinical scene. The needle was used as a skin puncher to harvest single follicles. The harvested micrografts were transplanted without trimming any of the adjacent tissue around the follicle. Clinical applications for the reconstruction of eyebrows in cases of anhydrotic ectodermal dysplasia and facial scars are demonstrated. Each patient showed a favorable result, and there was no scar formation at the donor site. This procedure makes hair harvesting smooth, speedy, and less traumatic. Beards as well as occipital hairs can be used as donors for single-follicle micrografts with this method in male patients.

Adult↗
PubMed1990

Dilemmas in counselling: the EEC syndrome.

A family with the EEC syndrome is reported. Two sibs have the classical form of the condition with ectrodactyly, ectodermal dysplasia, and clefting. Their mother, however, has only minimal evidence, with preaxial polydactyly of the right hand and duplication of the terminal phalanx of the second toe of the left foot with 3/4 syndactyly. The dilemmas faced by the genetic counsellor are discussed in this variable autosomal dominant condition.

Abnormalities, Multiple↗
PubMed1992

The tricho-rhino-phalangeal syndrome--a case report.

The diagnosis of tricho-rhino-phalangeal (TRP) syndrome may sometimes be confused with hypohidrotic ectodermal dysplasia (HED). Some of the facial features are similar but the hands of patients with TRP often have short distal phalanges, deviation at the proximal interphalangeal joints and, radiologically, a specific distribution of cone-shaped epiphyses. This report describes a case of TRP syndrome with previously unreported hypodontia, which increases the similarity between TRP and HED.

Anodontia↗
PubMed2005

A case of Schöpf-Schulz-Passarge syndrome.

Schöpf-Schulz-Passarge syndrome (SSPS) is a rare ectodermal dysplasia characterized by hypodontia, hypotrichosis, nail dystrophy, palmoplantar keratoderma, and periocular and eyelid margin apocrine hidrocystomas. Several other skin tumours have been described in association with this syndrome, in particular, multiple palmoplantar eccrine syringofibroadenoma (ESFA). We report a case of SSPS with diffuse palmoplantar hyperkeratosis, which was shown by histology and immunocytochemistry to be due to ESFA.

Aged↗
PubMed1996

EEC syndrome and genitourinary anomalies: an update.

We report on a large family with the ectrodactyly, ectodermal dysplasia, clefting (EEC) syndrome. The clinical manifestations in this family show great variability. Specific genitourinary anomalies were found. The propositus with micturition problems is discussed in detail. A dysplastic bladder epithelium might be the cause of these problems. A remarkable improvement of the complaints was achieved upon treatment with synthetic sulfonated glycosaminoglycans.

Abnormalities, Multiple↗
PubMed2003

Implants in the medically compromised patient.

Dental clinicians are confronted with an increasing number of medically compromised patients who require implant surgery for their oral rehabilitation. However, there are few guidelines on dental implant therapy in this patient category, so that numerous issues regarding pre- and post-operative management remain unclear to the dental clinician. Therefore, the aim of the present review is to offer a critical evaluation of the literature and to provide the clinician with scientifically based data for implant therapy in the medically compromised patient. This review presents the current knowledge regarding the influence of the most common systemic and local diseases on the outcome of dental implant therapy, e.g., abnormalities in bone metabolism, diabetes mellitus, xerostomia, and ectodermal dysplasias. Specific pathophysiologic aspects of the above-mentioned diseases as well as their potential implications for implant success are critically appraised. In line with these implications, guidelines for pre- and post-operative management that may assist in the successful implant-supported rehabilitation of this patient category are proposed.

Bone Diseases, Metabolic↗