Dermoodontodysplasia

Related Terms

Autosomal dominant disorders, ectodermal dysplasia, hypodontia, onychodysplasia, trichodermodysplasia, trichodysplasia.

Background

Dermoodontodysplasia is one of several ectodermal dysplasias that affect the outer layer of a developing embryo. This layer, called the ectoderm, develops into the skin, hair, nails, teeth, and eyes. As suggested by its name, dermatoodontodysplasia is characterized by skin and dental problems.
Dermatoodontodysplasia is a rare condition. The exact incidence is unknown, and very few cases have been described in the scientific literature. It is believed to be an inherited condition, and was first described in a Brazilian family in which 11 individual cases occurred over four generations. Three more possible cases were reported in another family, and the affected siblings also had symptoms of other ectodermal dysplasias (hypodontia/nail dysgenesis and trichodermodysplasia).
Because ectodermal dysplasias involve abnormal development of the embryonic ectoderm, they may have similar symptoms. However, based on the symptoms in the known cases, dermatoodontodysplasia was determined to be distinct from other similar ectodermal dysplasias.
There is no cure for the condition. Instead, treatment focuses on the management of symptoms. There is limited information about the life expectancy and quality of life in individuals with dermoodontodysplasia.

Signs and symptoms

Hair: As in many forms of ectodermal dysplasia, people with dermoodontodysplasia may have sparse hair on the scalp and body. Eyelashes and eyebrows may be missing or sparse.
Nails: Some people with dermoodontodysplasia may have underdeveloped or particularly fragile nails on the fingers and toes.
Skin: People with dermoodontodysplasia may have dry, thin, and fragile skin.
Teeth: People with dermoodontodysplasia tend to have missing, underdeveloped, or otherwise abnormal teeth. Permanent teeth may not erupt in these individuals.

Diagnosis

General: In general, dermoodontodysplasia is diagnosed based on the observation of several external characteristics of the skin and teeth.
Genetic testing: Genetic testing is a type of medical test that identifies changes in chromosomes, proteins, or genes. Usually, genetic testing is used to find changes associated with inherited disorders. Genetic testing is available for some types of ectodermal dysplasia but not specifically for dermoodontodysplasia.

Complications

Dental problems: Although information is limited, people with dermoodontodysplasia may experience dental problems from missing, underdeveloped, or otherwise abnormal teeth. These may include cavities and problems with speaking and eating.
Skin problems: Information on skin complications is extremely limited. People with dermoodontodysplasia may experience skin sensitivity and dryness.

Treatment

General: There is currently no known cure for dermoodontodysplasia. Treatment is instead focused on the management of symptoms.
Dental care: People with dermoodontodysplasia should practice good preventive dental care, including brushing their teeth at least twice a day and flossing once a day, visiting the dentist every six months, and avoiding cavity-causing foods and beverages. In addition, crowns or composite fillings may be used on small teeth. Partial or full dentures, implants, or dental surgery may be needed for missing teeth.
Skin care: Moisturizing lotions may help with skin care.

Integrative therapies

Currently there is a lack of scientific evidence on the use of integrative therapies for the treatment or prevention of dermoodontodysplasia. The therapies listed below have been studied for related conditions such as cavities, should be used only under the supervision of a qualified healthcare provider, and should not be used in replacement of other proven therapies or preventive measures.
Good scientific evidence:
Probiotics: Short-term consumption of probiotic-containing cheese may benefit dental caries. There is also evidence that the probiotic Lactobacillus rhamnosus GG, when added to milk, may help reduce dental caries in young children. Probiotics are generally considered safe and well-tolerated. Avoid if allergic or hypersensitive to probiotics. Use cautiously if lactose intolerant.
Unclear or conflicting scientific evidence:
Betel nut: The known toxicities of betel nut use and the availability of other proven products for dental hygiene indicate that the risks of betel nut may outweigh the potential benefits. Avoid if allergic to betel nut or other plants of the Palmaceae family. Avoid with asthma and hepatitis B or C. Use cautiously if taking anticholinergic or cholinergic drugs or drugs that may cause extrapyramidal effects (e.g., neuroleptics). Use cautiously with coronary artery disease, high blood pressure, diabetes, extrapyramidal disorders (e.g., Huntington's chorea and Parkinson's disease), urinary incontinence, mental illness, chest pain (angina), blood pressure disorders, irregular heartbeat, heart attack, diabetes, kidney disease, low calcium levels, cancer, thyroid disease, or vitamin D deficiency. Avoid if pregnant or breastfeeding.
Black tea: There is limited study of black tea as a mouthwash for the prevention of dental cavities (caries). It is not clear whether this is a beneficial therapy. Avoid if allergic or hypersensitive to caffeine or tannins. Skin rash and hives have been reported with caffeine ingestion. Use caution with diabetes. Use caution if pregnant. Heavy caffeine intake during pregnancy may increase the risk of SIDS (sudden infant death syndrome). Very high doses of caffeine have been linked to birth defects. Caffeine is transferred into breast milk. Caffeine ingestion by infants can lead to sleep disturbances and insomnia. Infants nursing from mothers consuming more than 500 milligrams of caffeine daily have been reported to experience tremors and heart rhythm abnormalities. Tea consumption by infants has been linked to anemia, decreased iron metabolism, and irritability.
Green tea: There is limited study of green tea as a gargle for the prevention of dental cavities (caries). It is not clear whether this is a beneficial therapy. Avoid if allergic or hypersensitive to caffeine or tannins. Use cautiously with diabetes or liver disease. Use caution if pregnant ore breastfeeding.
Magnet therapy: Using magnets to treat illness has historically been described in many civilizations. In modern times, magnetic fields play an important role in Western medicine, including in magnetic resonance imaging (MRI), pulsed electromagnetic fields, and experimental magnetic stimulatory techniques. A few case reports show that incorporation of dental magnets into dentures may be useful for patients with limited ability to tolerate or control removable dentures. Further research is needed to confirm these results.
Avoid with implantable medical devices such as heart pacemakers, defibrillators, insulin pumps, or hepatic artery infusion pumps. Avoid with myasthenia gravis or bleeding disorders. Avoid if pregnant or breastfeeding. Magnet therapy is not advised as the sole treatment for potentially serious medical conditions, and should not delay the time to diagnosis or treatment with more proven methods. Patients are advised to discuss magnet therapy with qualified healthcare providers before starting treatment.

Prevention

General: There are currently no known means of preventing dermoodontodysplasia.
Genetic counseling: Individuals who have dermoodontodysplasia or family histories of the disease may meet with a genetic counselor to discuss the risks of having children with the disease. However, because a specific genetic mutation that causes dermoodontodysplasia has not yet been identified, no genetic tests are currently available.

Author information

This information has been edited and peer-reviewed by contributors to the Natural Standard Research Collaboration (www.naturalstandard.com).

Bibliography

Ectodermal Dysplasia Society. .
Online Mendelian Inheritance in Man. .
Natural Standard: The Authority on Integrative Medicine. .
Pinheiro M, Freire-Maia N. Dermoodontodysplasia: an eleven-member, four generation pedigree with an apparently hitherto undescribed pure ectodermal dysplasia. Clin Genet. 1983;24:58-68.
Pinheiro M, Gomes-de-Sa-Filho FP, Freire-Maia N. New cases of dermoodontodysplasia? Am J Med Genet. 1990;36(2):161-6.

Causes

Dermoodontodysplasia is a form of ectodermal dysplasia, a group of disorders that affect the outer layer of a developing embryo. This layer, called the ectoderm, develops into the skin, hair, nails, teeth, and eyes. In this disorder, the skin and teeth are specifically affected.
It is not yet known whether dermoodontodysplasia can be inherited as a recessive or dominant trait. Individuals receive two copies of most genes, one from the mother and one from the father. For a dominant disorder to appear, only one defective copy of the defective gene is necessary. To inherit a recessive disorder, a person must inherit two copies of the defective gene, one from each parent. Individuals who inherit only one copy of a defective gene generally have no symptoms and are called "carriers" because they can pass the disorder to their children.

Risk factors

Dermoodontodysplasia is believed to be an inherited disorder that is passed down in families. If the disorder is inherited, the only known risk factor would be a family history of the disorder. It is unknown whether dermoodontodysplasia can occur as the result of a spontaneous genetic mutation with no family history of the disease.
The condition was first described in a Brazilian family in which 11 individual cases occurred over four generations. Whether it is more prevalent in the Brazilian population is currently unknown.