We are independent & ad-supported. We may earn a commission for purchases made through our links.
Advertiser Disclosure
Our website is an independent, advertising-supported platform. We provide our content free of charge to our readers, and to keep it that way, we rely on revenue generated through advertisements and affiliate partnerships. This means that when you click on certain links on our site and make a purchase, we may earn a commission. Learn more.
How We Make Money
We sustain our operations through affiliate commissions and advertising. If you click on an affiliate link and make a purchase, we may receive a commission from the merchant at no additional cost to you. We also display advertisements on our website, which help generate revenue to support our work and keep our content free for readers. Our editorial team operates independently of our advertising and affiliate partnerships to ensure that our content remains unbiased and focused on providing you with the best information and recommendations based on thorough research and honest evaluations. To remain transparent, we’ve provided a list of our current affiliate partners here.
Health

Our Promise to you

Founded in 2002, our company has been a trusted resource for readers seeking informative and engaging content. Our dedication to quality remains unwavering—and will never change. We follow a strict editorial policy, ensuring that our content is authored by highly qualified professionals and edited by subject matter experts. This guarantees that everything we publish is objective, accurate, and trustworthy.

Over the years, we've refined our approach to cover a wide range of topics, providing readers with reliable and practical advice to enhance their knowledge and skills. That's why millions of readers turn to us each year. Join us in celebrating the joy of learning, guided by standards you can trust.

What is Hypohidrotic Ectodermal Dysplasia?

By Maggie J. Hall
Updated: May 17, 2024
Views: 8,254
Share

Hypohidrotic ectodermal dysplasia, or anhidrotic ectodermal dysplasia, refers to a group of rare congenital disorders typically causing abnormal prenatal development of hair, skin, sweat glands and teeth. Body organs and skeletal tissue might also be affected. The anomaly primarily affects male infants, but females may also inherit the disorder. Researchers generally classify the syndromes as autosomal dominant, autosomal recessive, or X-linked. Christ-Siemens-Touraine syndrome, Hermann Werner Siemens and Rapp-Hodgkin syndrome belong to this large assembly of conditions.

Symptoms vary depending on whether the disorder is sex-linked or autosomal; the sex-linked variety typically presents more severe traits. In addition to obvious physical deformities, the common trait of missing or malfunctioning skin glands results in the body’s inability to hydrate the skin or form perspiration. These children are easily subject to hyperthermia and must use external cooling methods to prevent multi-organ damage.

Children born with the form of hypohidrotic ectodermal dysplasia known as Christ-Siemens-Touraine syndrome generally have brittle, fine, short blond hair that is usually sparse in nature. Their dry, shiny smooth skin is grayish-white in color and frequently lacks or contains malfunctioning oil and sweat glands. When these infants begin growing teeth, they are also sparse and malformed in appearance. The syndrome usually produces distinct facial features, which includes deformed ears, a flat saddle-bridged nose, a protruding forehead and thickened lips. Boys especially may be small in stature and appear feminine.

The hypohidrotic ectodermal dysplasia disorder known as Hermann Werner Siemens primarily causes cutaneous conditions. Youngsters develop keratosis pilaris, or bumps and rashes around hair follicles, that cause the openings to close and give the skin an overall goose-bump likeness. The trauma the hair shaft endures while forcing its way to the surface frequently results in damage and an altered appearance, as each hair becomes somewhat tufted. Groups of these tufted hairs produce a woolly patch. The disorder initially affects the hair on the face and scalp, including the eyebrows and eyelashes, but eventually affects the entire surface of the body.

The skin eczema that results is generally itchy and prone to infections, which are typically treated with topical steroids and oral antibiotics. The scarring caused by the cycle of skin rashes may eventually produce baldness. These children might also experience thickened eyelids, have corneal or lower jaw deformities, and be very sensitive to the sun.

Rapp Hodgkin is a genodermatoses with characteristics resembling many other hypohidrotic ectodermal dysplasia disorders, in that children typically have the sparse hair and either lack or have malfunctioning skin glands. Additionally, these infants may be born with cleft palates affecting the roof of the mouth and the upper lip. Finger and toenails also grow abnormally, and the youngsters overall typically experience retarded physical growth.

Share
WiseGeek is dedicated to providing accurate and trustworthy information. We carefully select reputable sources and employ a rigorous fact-checking process to maintain the highest standards. To learn more about our commitment to accuracy, read our editorial process.

Editors' Picks

Discussion Comments
Share
https://www.wisegeek.net/what-is-hypohidrotic-ectodermal-dysplasia.htm
Copy this link
WiseGeek, in your inbox

Our latest articles, guides, and more, delivered daily.

WiseGeek, in your inbox

Our latest articles, guides, and more, delivered daily.