Ectodermal dysplasia is a rare hereditary disorder. Its Hypohidrotic (HED) variant is also known as ChirstSiemens-Touraine syndrome. It is inherited as an Xlinked trait. Such Patients are characterized by the clinical manifestations of Hypodontia, Hypotrichosis, Hypohidrosis and a highly characteristic facial physiognomy. This article, reports a typical case of Hypohidrotic Ectodermal Dysplasia...

Ectodermal dysplasia is a rare hereditary disorder with a characteristic physiognomy. It is a genetic disorder affecting the development or function of the teeth, hair, nails and sweat glands. Depending on the particular syndrome ectodermal dysplasia can also affect the skin, the lens or retina of the eye, parts of the inner ear, the development of fingers and toes, the nerves and other parts o...

We report an inbred Tunisian family, in which the proband manifested signs of hypohidrotic ectodermal dysplasia, subtotal amelia, scoliosis and left renal agenesis. Two other family members had the full clinical criteria of hypohidrotic ectodermal dysplasia, characterized by deficient sweat glands, hypodontia, hypoplasia of the mucous glands, and fine hair. Nine family subjects had variable cli...

The human congenital syndromes ectrodactyly ectodermal dysplasia-cleft lip/palate syndrome, ankyloblepharon ectodermal dysplasia clefting, and split-hand/foot malformation are all characterized by ectodermal dysplasia, limb malformations, and cleft lip/palate. These phenotypic features are a result of an imbalance between the proliferation and differentiation of precursor cells during developme...

BACKGROUND Odonto-onycho-dermal dysplasia (OODD) is a rare form of ectodermal dysplasia characterized by severe oligodontia, onychodysplasia, palmoplantar hyperkeratosis, dry skin, hypotrichosis, and hyperhidrosis of the palms and soles. The ectodermal dysplasias resulting from biallelic mutations in the WNT10A gene result in highly variable phenotypes, ranging from isolated tooth agenesis to O...

BACKGROUND X-linked anhidrotic ectodermal dysplasia is a disorder characterized by abnormal development of tissues and organs of ectodermal origin caused by mutations in the EDA gene. The bovine EDA gene encodes the ectodysplasin A, a membrane protein expressed in keratinocytes, hair follicles and sweat glands, which is involved in the interactions between cell and cell and/or cell and matrix. ...

Ellis-Van Creveld syndrome is a very rare congenital disorder which its principal features are polysyndactyly, chondrodysplasia, cardiac abnormalities and ectodermal dysplasia. We report a 10-year-old girl with major manifestations of this syndrome who also had multiple brownish macules and patches on trunk and extremities with aortic and pulmonary stenosis in echocardiographic evaluations.

Ectodermal dysplasia (ED) is a congenital syndrome characterised mainly by abnormalities of two or more tissues of ectodermal origin namely skin, nails, hair and teeth. Two brothers of 14 years and 10 years of age respectively reported with chief complaint of multiple missing teeth. Thorough medical and dental examinations were performed and findings were in accordance with the typical features...

BACKGROUND Ectodermal dysplasias are developmental disorders affecting tissues of ectodermal origin. To date, four different types of ectodermal dysplasia involving only hair and nails have been described. In an effort to understand the molecular bases of this form of ectodermal dysplasia, large Pakistani consanguineous kindred with multiple affected individuals has been ascertained from a remo...

Background and Aim: Ectodermal dysplasia (ED) is a hereditary disease that affects ectodermal tissues. Its oral manifestations include hypodontia or oligodontia, which cause the reduction of the height and width of the alveolar ridge. Considering numerous difficulties that these patients encounter with regard to facial appearance, talking, and chewing, their rehabilitation has a major influence...