Mutations in the EDA gene are responsible for X-linked hypohidrotic ectodermal dysplasia, the most common form of ectodermal dysplasia. Males show a severe form of this disease, while females often manifest mild to moderate symptoms. We identified a missense mutation (c.463C>T) in the EDA gene in a Jordanian family, using direct DNA sequencing. This mutation leads to an amino acid change of arg...

The Hallermann-Streiff syndrome is a complex association of developmental anomalies principally involving structures of ectodermal origin. The constant expressions of the syndrome are dyscephaly with mandibulo-facial malformation, bilateral congenital cataracts, and dental anomalies, while hypotrichosis, cutaneous atrophy, microphthalmos, and proportionate dwarfism are frequently present (Table...

Ectodermal dysplasias form part of a wide range of syndromes presenting abnormal development of two or more tissues derived from the ectoderm. Hypohidrotic ectodermal dysplasia is a congenital syndrome, characterized by hypotrichosis (hair is sparse, fine and weak; anomalies in the skin and nails), hypohidrosis (due to the paucity of sweat glands which in turn gives rise to sweat disorders) and...

© 2011 The Authors. doi: 10.2340/00015555-1028 Journal Compilation © 2011 Acta Dermato-Venereologica. ISSN 0001-5555 WNT10A is a member of the wingless signalling pathway that has a fundamental role in skin and appendageal morphogenesis (1). Moreover, naturally occurring WNT10A gene mutations have been identified in the autosomal recessive human ectodermal dysplasia syndromes odonto-onycho-derm...

The ectodermal dysplasias are rare diseases with hypodontia, hypotrichosis and hypohidrosis. The subject’s life is considerably constrained and this from an early age, with major difficulties for the integration and acceptance of conventional prosthetic occlusal rehabilitation. The use of implants is an integral part of early treatment, in the regions of stable growth, that is to say symphysis....

Ectodermal dysplasia and sickle cell anaemia are inherited disorders that affect, respectively, the tissues derived from the embryonic ectoderm and the production of erythrocytes by the bone marrow. The simultaneous occurrence of both disorders is extremely rare. This is a case of both ectodermal dysplasia and sickle cell anaemia reported in a 6-year-old. The patient had been diagnosed with sic...

Absence of sweat glands, hypotrichosis, hypodontia, characteristic facial features, and intolerance to heat, without dystrophia of the nails, are manifestations of sex linked hypohydrotic ectodermal dysplasia. Three males and two females were affected in a family in which the affected females were also carrying a pericentric inversion of chromosome 9. Those phenotypically normal females in this...

The AEC syndrome or Hay wells is an unusual autosomal dominant disorder characterised by Ankyloblepharon, Ectodermal dysplasia and Cleft palate and/or lip. This occurs as a result of missense mutation in TP63 affecting P63 SAM the gene, which protein-protein interaction domain. It associated with some irregularities like /Cleft lip, severe scalp erosions abnormalities epidermal appendages inclu...

Hypotrichosis, an almost complete lack of teeth and the complete absence of eccrine nasolabial glands, was observed among the progeny of a normal cow of the black and white German Holstein breed. Similar congenital anomalies are known in humans and mice as X-linked anhidrotic ectodermal dysplasia (ED1), leading to the impaired formation of hair, teeth and sweat glands. The pedigree of the four ...

The rat dominant hairless gene (Ht) of the WBN/Ila-Ht rat causes atrichosis in Ht/Ht and hypotrichosis in Ht/+. Furthermore the Ht/Ht shows signs of abnormal keratinization and almost all of the Ht/Ht die in an immature stage before weaning in the conventional environment. Ht/+ was affected by dermatitis caused by Staphylococcus aureus, suggesting that the gene Ht might involve defense mechanis...