Hypohidrotic ectodermal dysplasia is a rare congenital disorder affecting hair, skin, sweat glands, teeth, body organs, and skeletal tissue. It mainly affects newborn boys but can also affect girls. Symptoms vary depending on whether the disorder is sex-linked or autosomal. Christ-Siemens-Touraine syndrome, Hermann Werner Siemens syndrome, and Rapp-Hodgkin syndrome belong to this group of conditions. Children with this disorder are prone to hyperthermia and must use external cooling methods to prevent multi-organ damage.
Hypohidrotic ectodermal dysplasia, or anhidrotic ectodermal dysplasia, refers to a group of rare congenital disorders that typically cause abnormal prenatal development of hair, skin, sweat glands, and teeth. Body organs and skeletal tissue may also be affected. The anomaly mainly affects newborn boys, but girls can also inherit the disorder. Researchers generally classify the syndromes as autosomal dominant, autosomal recessive, or X-linked. Christ-Siemens-Touraine syndrome, Hermann Werner Siemens syndrome, and Rapp-Hodgkin syndrome belong to this large set of conditions.
Symptoms vary depending on whether the disorder is sex-linked or autosomal; the sex-linked variety typically has more severe traits. In addition to the obvious physical deformities, the common trait of missing or malfunctioning skin glands results in the body’s inability to moisturize the skin or form sweat. These children are prone to hyperthermia easily 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 blonde hair that is usually sparse in nature. Their dry, shiny skin is grayish-white in color and often lacks or contains oil and malfunctioning sweat glands. By the time these children begin to grow teeth, they are also sparse and malformed in appearance. The syndrome usually produces distinct facial features, which include deformed ears, a flat saddle nose, a protruding forehead, and thickened lips. Boys in particular can be small in stature and appear feminine.
Hypohidrotic ectodermal dysplasia disorder known as Hermann Werner Siemens mainly causes skin conditions. Young people develop keratosis pilaris, or bumps and rashes around the hair follicles, which cause the openings to close and give the skin an overall resemblance to goosebumps. The trauma that the hair shaft experiences as it works its way to the surface often results in damage and an altered appearance, as each strand becomes a bit of a clump. The clusters 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 body surface.
The resulting skin eczema is usually itchy and prone to infection, which is usually treated with topical steroids and oral antibiotics. The scars caused by the cycle of rashes can eventually produce baldness. These children might also have thickened eyelids, have deformities of the cornea or lower jaw, and be very sensitive to the sun.
Rapp Hodgkin is a genodermatosis with features reminiscent of many other disorders of hypohidrotic ectodermal dysplasia, in that children typically have thinning hair and lack or have malfunctioning skin glands. Also, these children may be born with cleft palate affecting the palate and upper lip. Fingernails and toenails also grow abnormally, and young people typically experience physical growth retardation.
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