Rapp-Hodgkin syndrome is a rare disease that can affect your hair, nails, skin, sweat glands, and teeth. It’s caused by a problem with your genes, and it’s part of a larger group of conditions that doctors call “ectodermal dysplasia.”
Rapp-Hodgkin syndrome has signs and symptoms that overlap extensively with those of ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome, also called Hay-Wells syndrome. These two syndromes were classified as separate disorders until it was discovered that they both result from mutations in the same part of the same gene, TP63. Most researchers now consider Rapp-Hodgkin syndrome and AEC syndrome separate disorders that are part of the same disease spectrum.
If you have it, it’s a lifelong condition. Although you can’t prevent or cure it, doctors can treat it.
Causes
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.
Symptoms
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.
Diagnosis
Usually, your doctor can tell you have AEC based on your symptoms, health history, and a physical exam. You may also get a genetic test to check on the TP63 gene, but not all labs can do this test.
Parents with a risk of having a baby with AEC may be able to have their baby tested before birth.
Treatment
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.