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...

BACKGROUND X-linked hypohidrotic ectodermal dysplasia (XLHED), the most common type of ectodermal dysplasia, is caused by EDA gene mutations. Reduced sweating contributes substantially to XLHED associated morbidity and mortality. To characterise the genotype-phenotype relationship, sweat gland function was assessed non-invasively in XLHED patients and healthy controls. SUBJECTS AND METHODS In...

Autosomal recessive hypotrichosis simplex with woolly hair is a rare dermatological disorder, characterized by sparse hair and tightly curled hair. We report on a new family affected with this disorder which has not previously been reported. In this family, 2 siblings were affected. We believe that the disorder is not rare, but is possibly misdiagnosed, and hence underreported.

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The highly conserved ectodysplasin A (EDA)/EDA receptor signaling pathway is critical during development for the formation of skin appendages. Mutations in genes encoding components of the EDA pathway disrupt normal appendage development, leading to the human disorder hypohidrotic ectodermal dysplasia. Spontaneous mutations in the murine Eda (Tabby) phenocopy human X-linked hypohidrotic ectoder...

Young children with hypodontia caused by hypohidrotic ectodermal dysplasia (HED) not only have difficulties in mastication and speech but can also sense that their appearance is different from others. Enabling children with HED to look like their peers through the use of well-fitting and functioning complete and removable partial dentures with age appropriate teeth will greatly assist in their ...

BACKGROUND This study aimed to review the results related to head and jaw disorders in cases of ectodermal dysplasia. The evaluation of ectodermal dysplasia cases was made by clinical examination and examination of the jaw and facial areas radiologically and on cone-beam 3-dimensional dental tomography (CBCT) images. MATERIAL AND METHODS In the 36 cases evaluated in the study, typical clinica...