Table of Contents
What is ectodermal dysplasia caused by?
The different types of ectodermal dysplasia are caused by the mutation or deletion of certain genes located on different chromosomes. Because ectodermal dysplasias are caused by a genetic defect they may be inherited or passed down the family line.
What causes Anhidrotic ectodermal dysplasia?
Causes. Hypohidrotic ectodermal dysplasia is a genetic condition that can result from mutations in one of several genes. These include EDA, EDAR, EDARADD, and WNT10A. EDA gene mutations are the most common cause of the disorder, accounting for more than half of all cases.
What body system does Hypohidrotic ectodermal dysplasia affect?
General Discussion. Hypohidrotic ectodermal dysplasia (HED) is a rare inherited multisystem disorder that belongs to the group of diseases known as ectodermal dysplasias. Ectodermal dysplasias typically affect the hair, teeth, nails, sweat glands, and/or skin.
What does ectodermal dysplasia affect?
There are many types of ectodermal dysplasia (ED), but all of them affect at least two of the ectodermal structures — the skin, hair, nails, teeth, mucous membranes and sweat glands.
At what age are all of the permanent teeth typically lost in a patient with Papillon Lefevre syndrome?
PLS is characterized by periodontitis and palmoplantar keratoderma. The severe destruction of periodontium results in loss of most primary teeth by the age of 4 and most permanent teeth by age 14.
What is ectodermal dysplasia?
Ectodermal dysplasia (ED) syndrome is a rare heterogeneous group of inherited disorders that share primary defects in the development of two or more tissues derived from the ectoderm. These tissues primarily affected are the skin, hair, nails, eccrine glands, and teeth.
How does ectodermal dysplasia (EEC) affect language development?
Also, the impaired cognitive functioning that sometimes accompanies EEC can inhibit language acquisition. The ectodermal dysplasia associated with EEC syndrome arises from abnormalities in the embryonic ectoderm, as described above.
How is ectodermal dysplasia (ED) diagnosed?
The dentist may also take x-rays to see if there are teeth that have not yet come in. If the dental exam suggests ectodermal dysplasia, the dentist will refer you to a medical geneticist or a doctor with experience in ectodermal dysplasias to confirm the diagnosis. In some cases, a genetic test may help diagnose ED.
What are ectodermal and neuroectodermal derivative abnormalities?
The ectodermal derivative abnormalities can affect the epidermis including mammary, pituitary and sweat glands, as well as hairs, dental enamel, nails, lens, and the internal ear. Neuroectodermal derivatives that can be affected include sensory placodes, cutaneous pigmental cells, and hair buds.