Dermoodontodysplasia
medical conditions

Dermoodontodysplasia

Explore the available health information, treatment context, and integrative evidence for Dermoodontodysplasia.

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.
Risk Factors and Causes
  • 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.

  • 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.
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.
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.
References
  1. Ectodermal Dysplasia Society. . Accessed March 17, 2008.
  2. Online Mendelian Inheritance in Man. . Accessed April 3, 2008.
  3. Natural Standard: The Authority on Integrative Medicine. . Copyright © 2008. Accessed April 3, 2008.
  4. 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.
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  5. Pinheiro M, Gomes-de-Sa-Filho FP, Freire-Maia N. New cases of dermoodontodysplasia? Am J Med Genet. 1990;36(2):161-6.
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