About rapp hodgkin syndrome

What is rapp hodgkin syndrome?

Rapp-Hodgkin syndrome, an extremely rare inherited multisystem disorder that is apparent at birth (congenital) or during infancy, belongs to a group of diseases known as ectodermal dysplasias. Ectodermal dysplasias typically affect the skin, teeth, hair, and/or nails. Rapp-Hodgkin syndrome is characterized by a reduced ability to sweat (hypohidrosis); an incomplete closure of the roof of the mouth (cleft palate) and/or an abnormal groove in the upper lip (cleft lip); partial or complete absence (hypodontia or partial anodontia) and/or abnormal smallness (microdontia) of primary and secondary (permanent) teeth. Infants and children with the disorder also have abnormally sparse, coarse, wiry scalp hair that is often lost prematurely during adulthood (alopecia); unusually slow-growing, improperly developed nails (dysplastic); and, in some cases, additional physical abnormalities. In most cases, Rapp-Hodgkin syndrome is inherited as an autosomal dominant trait.

What are the symptoms for rapp hodgkin syndrome?

Missing or unusually shaped nails symptom was found in the rapp hodgkin syndrome condition

These can differ quite a bit from person to person. It even varies for people in the same family who have AEC.

Common symptoms include:

  • Cleft lip. This is when the upper lip doesn’t fully form and has an opening in it.
  • Cleft palate. With this, there’s an opening in the roof of the mouth.
  • Fewer sweat glands or none at all. People with this symptom can’t sweat as much and may easily feel overheated.
  • Fused eyelids. This means they are joined partly or totally together. There may also be problems with the tear ducts, which can lead to dry eyes and pinkeye.
  • Growth problems. Weight gain issues, too.
  • Hearing loss. This can lead to delays in learning to talk.
  • Missing or unusually shaped nails.
  • Skin erosion. This is loss of skin in some areas. It can be life-threatening in infants.
  • Teeth problems. These can include missing teeth, wide gaps between teeth, cone-shaped teeth, and thin enamel (the hard outer covering of the teeth).
  • Urethra problem in men. The opening of the tube that carries pee outside the body may be on the underside of the penis.
  • Very little hair -- on both head and face -- and dry or brittle hair.

What are the causes for rapp hodgkin syndrome?

Each of your cells has two copies of every gene. One comes from your mother and one from your father.

AEC is caused by a glitch in one of your genes, the TP63 gene. If either copy of your TP63 gene has the glitch, you’ll have AEC.

Sometimes, you get AEC from your parents. But more often, it’s something you’re randomly born with. A parent with the glitch has a 50% chance of passing on the gene to a child.

What are the treatments for rapp hodgkin syndrome?

Doctors can treat many of the symptoms of AEC. You’ll work with a team that may include surgeons, skin doctors, dentists, eye doctors, and others. You and your family may also want to seek counseling to work through the emotional challenges of having a rare disease.

Treatments for AEC symptoms may include:

  • Dental implants for older kids and adults. These are anchors that go into the jaw bone to hold replacement teeth. Younger kids may get dentures, which are replacement teeth that you can easily take out.
  • Ear tubes. This is done if fluid buildup causes hearing loss and ear infections.
  • Eye drops for dry eyes.
  • Gentle wound care for skin erosions. You may also need to clean erosions with a weak bleach solution, such as Dakins solution, to kill germs.
  • Speech therapy.
  • Surgery for cleft lip and cleft palate.
  • Surgery to separate fused eyelids. If the eyelids are joined only in a few small sections, they may come apart on their own without surgery.
  • Wigs to hide hair loss.

Is there a cure/medications for rapp hodgkin syndrome?

Rapp-Hodgkin syndrome is a rare disease that is caused by a defect in genes. It can cause problems to hair, nails, skin, teeth, and sweat glands. The child may inherit one faulty gene from each parent and resulting in this syndrome.

  • The child with Rapp-Hodgkin syndrome may have opened in the upper lip, skin erosions, fused eyelids, growth problems, hair loss, and other problems associated with appearance. him99999 Unfortunately, this syndrome has no cure.
  • But it can be managed in the following ways:
  • Dental implants: The child sometimes with dental imperfections, However, they can be fixed in later stages of life through dental implants.
  • Surgery for cleft lips: in many genetic disorders the child is born with a small or complete opening of the lips. By that time the doctor might just stitch the wound but in later stages cosmetic surgery can fix the flaw,
  • Wigs and hair transplants: it is often noticed that a child with Rapp Hodgkin experiences excessive hair loss and baldness that could be covered through wigs and hair transplants in adulthood.
  • Separate eyelids: A child may sometimes have adjoined eyelids that can be fixed through surgery. Otherwise, the affected will have trouble seeing.
  • Speech therapy: Children with this syndrome have difficulty speaking and expressing their thoughts; speech therapy is effective for such children.
  • Gentle wound care: A weak bleach-like Dakin solution is effective to clear skin erosion.

Cleft lip,Cleft palate,Fewer to no sweat glands,Fused eyelids,Growth problems,Hearing loss,Skin erosion,Missing or unusually shaped nails
Ectodermal dysplasia

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