Anhidrotic Ectodermal Dysplasia with Anodontia: A Study of Two Families

Everett, Frank G.; Jump, E.B.; Sutherland, Wallace F.; Savara, Bhim Sen; Suher, Theodore

doi:10.1016/s0002-8177(52)42009-7

Cited by 27 publications

(6 citation statements)

References 21 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The features of this syndrome are contrasted with those of our cases, and anhidrotic and hidrotic ectodermal dysplasia in Table 2, The other syndrome, the L,A,D.D, syndrome, the main features of which are lacrimal duct atresia, auricular deformities, dental and digital anomalies, covers a similar range of defects (Hollister et al, 1973)-All these conditions may be inherited as autosomal dominant traits, although, when the E,E,C, syndrome was associated with mental retardation, the inheritance was autosomal recessive (Freire-Maia, 197°)-Ectodermal defects. The ectodermal defects in this syndrome share important features in common with the classical anhidrotic and hidrotic ectodermal dysplasias (Table 2), The presence of sweating, in reduced amounts, has already been noted in patients with features typical of anhidrotic ectodermal dysplasia (Everett et al, 1952), although this belies the description 'anhidrotic'. Until more satisfactory methods are available for evaluating the structure, distribution and response of sweat glands, this difficulty in defining the type of sweating abnormality will persist.…”

Section: Genetic Findingsmentioning

confidence: 81%

Cleft Lip and Palate: The syndrome of ankyloblepharon, ectodermal defects and cleft lip and palate. An autosomal dominant condition

Hay¹,

Wells²

1977

Plastic and Reconstructive Surgery

View full text Add to dashboard Cite

Section: Genetic Findingsmentioning

confidence: 81%

Cleft Lip and Palate: The syndrome of ankyloblepharon, ectodermal defects and cleft lip and palate. An autosomal dominant condition

Hay¹,

Wells²

1977

Plastic and Reconstructive Surgery

View full text Add to dashboard Cite

“…Teeth show abnormal morphogenesis or may be absent. Usually patient presents with hypodontia, hypoplasia, retained deciduous teeth, and facial disfigurement 7 .…”

Section: Genetics Of Ectodermal Dysplasiamentioning

confidence: 99%

Multidisciplinary management of hypohydrotic ectodermal dysplasia – a case report

Joseph

Cherackal

Jacob

et al. 2015

Clinical Case Reports

View full text Add to dashboard Cite

Key Clinical MessageHypohydrotic ectodermal dysplasia is a hereditary disorder, which affects ectodermal derivatives. It manifests several abnormalities of the teeth, and is commonly inherited through female carriers. This case report presents a patient with compromised esthetics and function. A multidisciplinary approach was planned involving an oral pathologist, endodontist, orthodontist and a prosthodontist.

show abstract

“…Although rudimentary sweat glands have not been observed histologically in HED (18)(19)(20)(21)(22), there is no real reason why they cannot exist. Is it not possible in this condition to have a range of sweat gland changes comparable to the variety of dental and epidermal ridge abnormalities?…”

Section: Discussionmentioning

confidence: 99%

“…The skin abnormalities have been studied histologically (18)(19)(20)(21)(22) and stereomicroscopically (1,23). Sweat gland activity has been assessed by dye indicators (8,(24)(25)(26)(27), and silicone monomer impressions have been used to evaluate dermatogiyphics and to enumerate sweat pores (1,5,23,24,27).…”

mentioning

confidence: 99%

Hypohidrotic Ectodermal Dysplasia: A Genealogic, Stereomicroscope, and Scanning Electron Microscope Study

Norval

Wyk

Basson

et al. 1988

Pediatric Dermatology

View full text Add to dashboard Cite

This is a report of three patients with hypohidrotic ectodermal dysplasia, or Christ-Siemens-Touraine syndrome, their genealogic backgrounds and the stereomicroscope and scanning electron microscopic appearances of the hair, the skin of their fingertips and palms as well as skin studies of members of their families. The skin morphology was recorded by means of silicone monomer rubber impressions and epoxy resin dyes. In two of the patients the disease was acquired by X-linked inheritance, while in the third, a boy, it appeared to follow an autosomal dominant pattern. Defects of the skin of the fingertips and palms of the propositi and members of the families included abnormalities of the morphology and pattern of the epidermal ridges, reduction of sweat pores varying from 13 to 87% of normal, and changed anatomy of the openings of the sweat glands. The openings were shallow and with less whorling compared to the normal, funnel-shaped sweat pores. Among the sweat pores, micropores, or openings with an average diameter of 5.3 micrometers, were observed. One of the propositi and the affected father of another had orifices on their fingertips resembling hair sheaths. Two propositi and the affected father of one exhibited grooving of the hair. The findings confirm the necessity for genealogic investigations in patients with or suspected of having the disease in order to advise parents or prospective parents. They also illustrate the usefulness of stereomicroscopy and scanning electron microscopy in observing skin and hair abnormalities.

show abstract

Anhidrotic Ectodermal Dysplasia with Anodontia: A Study of Two Families

Cited by 27 publications

References 21 publications

Cleft Lip and Palate: The syndrome of ankyloblepharon, ectodermal defects and cleft lip and palate. An autosomal dominant condition

Cleft Lip and Palate: The syndrome of ankyloblepharon, ectodermal defects and cleft lip and palate. An autosomal dominant condition

Multidisciplinary management of hypohydrotic ectodermal dysplasia – a case report

Hypohidrotic Ectodermal Dysplasia: A Genealogic, Stereomicroscope, and Scanning Electron Microscope Study

Contact Info

Product

Resources

About