PubMed Health⌕ Search

SEARCH · PubMed Health

Results for “ECTODERMAL DEFECT, CONGENITAL”

Explore indexed PubMed citations for clinical trials, systematic reviews and public health research. Read source abstracts and follow each citation to its original PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 145 records · Page 8Linked to original sources
PubMed2001

Desmosomes: structure and function in normal and diseased epidermis.

Desmosomes are important epidermal adhesion complexes that are characterized by a cell-specific expression of transmembrane cadherins and plaque-associated molecules. Desmosomes have so far, been implicated in three main disease types: autoimmune diseases that involve desmosome components (such as pemphigus vulgaris and pemphigus foliaceus), congenital diseases that affect intracellular calcium channels (such as Hailey-Hailey disease and Darier disease) and congenital diseases that directly affect desmosomal structural components. The identification of the first congenital defect affecting a desmosome component was in the gene for plakophilin I which caused an autosomal recessive skin fragility-ectodermal dysplasia syndrome with skin, hair and nail defects. Subsequently, either a haploinsufficiency of desmoplakin or a defect in desmoglein 1 was found to underlie the autosomal dominant condition Striate Palmoplantar Keratoderma. In addition, plakoglobin has been shown to be defective in Naxos disease, which results in a cardiomyopathy and growth of abnormal hair. These findings pave the way for the discovery of further cell cohesion-related diseases and will help to greatly increase our understanding of the specific function of desmosome and other epithelial junction components.

Animals↗
PubMed1991

Overdentures in partial anodontia: simple solutions for complex problems.

Congenital defects in children and adolescents can present complex and challenging dental problems, including arch discrepancies, palatal defects, and malposed or otherwise disrupted dentition. Traditional treatment is often time-consuming, expensive, and in extensive defects, frequently compromised at best. The overdenture prosthesis, often overlooked, is a relatively simple and expedient solution to many of these severe problems, and the prosthetic techniques are familiar and readily employed by dentists without specialized training. This article reviews the general principles employed in these techniques and offers examples of successful treatment for several of the more commonly occurring congenital dental defects.

Adolescent↗
PubMed2000

Repair of a congenital cranial defect in a newborn with autologous calvarial bone.

A case is reported of early repair of a cranial defect associated with aplasia cutis congenita using a full-thickness autologous calvarial graft. New bone regenerated to fill the defect at the donor site, such that by 6 weeks of life no calvarial defects remained. This simple technique is recommended as an alternative to a delayed acrylic or split cranial bone cranioplasty as a second operation. A similar technique could be considered for other congenital cranial defects, such as those associated with encephaloceles or bilateral parietal foramina.

Bone Regeneration↗
PubMedDate not supplied

Epidermal nevus syndromes: clinical findings in 35 patients.

Of the patients with epidermal nevi, 10-18% may have disorders of the eye, nervous, and musculoskeletal systems. A predisposition to malignant neoplasms in ectodermal and mesodermal structures may also be found. There are six different epidermal nevus syndromes described so far: Proteus, congenital hemidysplasia with ichthyosiform nevus and limb defect syndrome, phakomatosis pigmentokeratotica, sebaceous nevus, Becker nevus, and nevus comedonicus. Thirty-five patients with epidermal nevus syndrome seen at the National Institute of Pediatrics in Mexico City during a 31-year period are described. This syndrome represented 7.9% of 443 patients with epidermal nevi; its relative frequency was 1 case per 11,928 pediatric patients and 1 case per 1080 dermatologic patients. Nine epidermal nevus syndrome patients (26%) had Proteus syndrome. Sebaceous nevus syndrome was found in six patients (17%), while the nevus comedonicus syndrome was found in three (8%). Two patients were diagnosed with phakomatosis pigmentokeratotica and one patient with congenital hemidysplasia with ichthyosiform nevus and limb defect syndrome. This is the first report of phakomatosis pigmentokeratotica and congenital hemidysplasia with ichthyosiform nevus and limb defect syndrome in Mexican patients. One patient had an inflammatory linear verrucous epidermal nevus with systemic involvement. Thirteen patients (37%) had keratinocytic nevi with systemic involvement. We propose the keratinocytic nevus syndrome to be defined as the association of a keratinocytic nevus with neuronal migration and/or musculoskeletal disorders in addition to a higher risk for mesodermal neoplasms.

Abnormalities, Multiple↗
PubMed1980

The ectodermal dysplasias. Problems of classification and some newer syndromes.

The ectodermal dysplasias are a heterogeneous group of disorders that, in the past, has included conditions best classified as progeroid disorders. The inaccuracy of the terminology has led to a proliferation of syndromes in which the patients are said to have poorly defined "ectodermal dysplasia," and a real need exists to define that appellation further. We suggest that the term "ectodermal dysplasia" be limited to those disorders that are congenital, are diffusely present, are not progressive, and do involve the epidermis and at least one of the appendages. We recognize that a heterogeneous group of disorders remains that generically have certain similarities. Not enough is known about the defects in each of the elements of the skin affected in these conditions to classify them more accurately. Several recently described disorders appear to have some degree of ectodermal dysplasia.

Abnormalities, Multiple↗
PubMed1988

The carpal bones in congenital hand anomalies: a radiographic study in patients older than ten years.

Abnormalities of the carpal bones in 192 anomalous hands of 154 patients older than 10 years were examined. Judging from the time of appearance of the pisiform, there was no delay of carpal bone maturation in these anomalies. There were differences between the carpal bones of three distinct groups: which included central polydactyly, syndactyly, and typical cleft hand; the group which included radial and ulnar deficiency, and the group which included symbrachydactyly and transverse defect. This suggests that there were differences between these groups in the timing and degree of injury to the limb bud or the hand plate in the course of development. It is thought that the first group originates from maldistribution of mesenchymal tissue of the limb bud (or of the apical ectodermal ridge), the second group from defects of that tissue, and the last group from defects of the mesenchymal tissue of the hand plate.

Adolescent↗
PubMed1983

A newly recognized neuroectodermal syndrome of familial alopecia, anosmia, deafness, and hypogonadism.

We describe a large, three generation kindred in which 16 individuals were affected with alopecia, hyposmia or anosmia, conductive deafness associated with protruding ears, microtia, and/or atresia of the external auditory canal, hypogonadotropic hypogonadism due to LH/FSH deficiency, and a greater than normal tendency to dental caries. Variable manifestations include mild facial asymmetry, mental retardation, congenital heart defect, and cleft palate. This seems to be a previously undescribed pleiotropic autosomal dominant trait with variable expressivity. The manifestations can be explained on the basis of involvement of the ectoderm and neuroectoderm of the first and second branchial arches, of Rathke's pouch, and of the diencephalon.

Abnormalities, Multiple↗
PubMed1993

Two sibs with cleft palate, ankyloblepharon, alveolar synechiae, and ectodermal defects: a new recessive syndrome?

Hay and Wells in 1976 reported seven patients from four families who had an inherited condition of which the main features were ankyloblepharon, ectodermal defects, and cleft lip and palate. The inheritance pattern was determined to be autosomal dominant. This condition is known as AEC syndrome or Hay-Wells syndrome. We report a family with two sibs showing some of these features and congenital adhesions between the upper and lower jaws (alveolar synechiae). There seems to be a recessive pattern of inheritance as neither of the parents has any features of the syndrome. This could be described as a recessive form of Hay-Wells syndrome with additional features or be named as a new syndrome.

Abnormalities, Multiple↗
PubMed2003

Primary immunodeficiencies associated with pneumococcal disease.

PURPOSE OF REVIEW: Streptococcus pneumoniae may cause disease in patients with a variety of primary immunodeficiencies. However, no previous review has dealt with the issue of which primary immunodeficiencies predispose affected individuals to pneumococcal disease. We thus reviewed the medical literature on cases of S. pneumoniae infection in patients with primary immunodeficiency diseases, with a particular emphasis on invasive pneumococcal disease. RECENT FINDINGS: Primary immunodeficiency diseases comprise over 100 conditions, each associated with a variety of infections. Patients at high risk for pneumococcal disease include most if not all B-cell defects (whether due to an intrinsic B-cell anomaly or an impaired T-cell help), deficiencies of early components of the classical pathway of complement and C3 deficiency, congenital asplenia, anhidrotic ectodermal dysplasia with immunodeficiency (caused by impaired NF-kappaB activation), and interleukin-1 receptor associated kinase-4 deficiency. Patients with other complement deficiencies (alternative and third pathway) and hyperimmunoglobulin E syndrome show a lower risk, whereas patients with other known primary immunodeficiencies, such as phagocytic disorders, do not appear to be particularly vulnerable to S. pneumoniae. SUMMARY: Antibody- and complement-mediated opsonization, splenic macrophages and interleukin-1 receptor associated kinase-4- and nuclear factor kappaB-mediated immune responses are crucial for protective immunity to S. pneumoniae. This information is useful, not only in increasing our understanding of human immunity to S. pneumoniae, but also in the diagnostic investigation of patients with pneumococcal disease.

B-Lymphocytes↗
PubMed1985

Aplasia cutis congenita associated with valvular heart disease.

We present a patient with a congenital scalp lesion compatible with aplasia cutis congenita (ACC) and associated congenital heart disease (CHD). This interesting combined entity is briefly reviewed and associated defects that can occur are discussed.

Ectodermal Dysplasia↗
PubMed1976

Midline cutaneous and spinal defects. Midline cutaneous abnormalities associated with occult spinal disorders.

Failure of separation of the neuroectoderm from the epithellal ectoderm to proceed in an orderly and complete fashion results in a wide variety of defects involving the skin, spinal cord, and cauda equina, as well as the surrounding structures of mesodermal origin. Congenital dermal sinuses occur most commonly in the lumbosacral region, are usually associated with a spina bifida, and may connect the skin directly to the spinal canal. Epidermoid or dermoid cysts may form at any point along a dermal sinus. Four types of cutaneous or subcutaneous abnormalities commonly seen associated with occult spinal disorders are abnormal hair, angioma, lipoma, and dimple. It is essential that these lesions are investigated at an early age, since surgical excision may prevent future neurologic deficits.

Adolescent↗