Ectodermal dysplasia syndrome

Author: Dr. Nhan Tam View: 777
Ectodermal dysplasia syndrome is a rare disorder with defects in two or more ectodermal structures that develop abnormally in the teeth, skin, and ectoderm appendages including hair, nails, and endocrine glands, and sebaceous glands.

Causes and clinical symptoms

The cause of ectodermal dysplasia syndrome is due to genetic changes and genetic factors. This is a congenital defect of 2 or more ectodermal structures.

This disorder is divided into two categories based on the number and function of sweat glands: Clouston syndrome and Christ-Siemens-Touraine syndrome.

More specifically, it is an X-linked condition – the most common chromosomal form in ectodermal dysplasia. These disorders cause little hair, no sweat glands, and sebaceous glands, causing quite a lot of impact on the body's functions, seriously affecting the health and psychology of the patient.

Patients with ectodermal dysplasia typically present with the following clinical symptoms:

  • Sunken cheeks, concave nose bridge, thick and slightly protruding lips, wrinkled and dark skin around the eyes (signs of hyperpigmentation);
  • Lips are dry and chapped, can't stand the heat because of reduced salivary glands, lack of accessory glands in the mouth.
  • Fragile hair, sparse hair, no eyelashes, eyebrows, or there are sparse.
  • Manifestations inside the mouth are abnormally shaped teeth such as piles or pointed teeth, wide teeth, missing a few teeth due to the absence of tooth germ in the jawbone, underdeveloped alveolar bone, and most seriously, no teeth.
  • The most common symptom is decreased sweating (also known as Christ-Siemens-Touraine syndrome), but we can also see many other symptoms. This symptom is characterized by less hair, reduced sweating, etc.
  • This is a rare disorder, but people with this syndrome face many difficulties in treatment. Many patients recounted what they had to go through as an obsession, often being stigmatized and looked down upon, causing a closed mentality and fear since childhood.

Most cases of ectodermal dysplasia present in infancy. Sometimes relatives do not find out until they are adults to go to the doctor and get treatment.

A report by Dr. Sepideh Mokhtari from Shahid Beheshti University of Medical Sciences - Iran analyzed a clinical case of Christ-Siemens-Touraine syndrome. His patient is a 7-year-old boy who has difficulty chewing and speaking due to missing teeth, slow growth of permanent teeth. Panorex film shows the boy has 4 pointed teeth, believed to be baby teeth, which grow abnormally. He was diagnosed with Christ-Siemens-Touraine syndrome – ectodermal dysplasia with decreased sweating.

Panorex pictures and movies of a boy with ectodermal dysplasia

Physical examination revealed that the boy had blond hair, sparse and thin, few eyebrows and eyelashes, flattened nasal bridge, protruding forehead, convex upper orbital border, dry, protruding, and protruding lips. Dry skin, many layers of wrinkles, hyperpigmentation around the eyes, dyskeratosis on the feet. However, the boy's intelligence was very ordinary. His mother shared that the boy was always thirsty and felt unusually hot. No one in the boy's family had the same condition. Doctor Sepideh considered and decided to treat the boy according to his desire to have teeth for chewing and aesthetics, so he made a partial removable denture.

X-linked recessive ectodermal dysplasia is fully expressed in males. Females carry more recessive X chromosomes than males, so women have few or no symptoms and it is difficult to determine the clinical condition.


According to some studies, about 7 out of 10,000 children have this disease. Timely diagnosis and treatment will create favorable conditions for children to have enough nutrients, normal appearance and pronunciation, to integrate with friends to study and grow up like other children.

Up to this point, there is no cure for ectodermal dysplasia syndrome. However, the symptoms of the disease can be overcome by coordinating the control and treatment of many specialists: a dermatologist, a dentist, a psychologist.

If hypohidrosis, relatives should pay attention to protect the child from high temperatures. In dental disorders, doctors and relatives should coordinate to choose the best treatment plan and as soon as possible, to avoid limitations in communication, eating, greatly affecting life. live and learn. The preferred treatment method in the treatment of dental disorders is the use of partial removable dentures, combined with direct composite restorations. If the patient has reached adolescence or adulthood, orthodontic treatment is possible, then partially fixed restorations or future implants.

In some patients, when the alveolar bone is severely resorbed due to toothless or missing teeth, mass grafting with cancellous and cortical bone taken from the iliac crest and fixed implant placement is an appropriate treatment option.

Most recently, a surgery on June 3 at Van Hanh General Hospital, Ho Chi Minh City, Vo Van Nhan DDS, PhD - Director of Nhan Tam Dental Clinic had to perform 2 techniques at the same time: nerve relocation, dental implant to restore lower teeth and cheekbone implant to restore upper teeth for patients with UTI

Vo Van Nhan DDS, PhD and Associates in a surgery

Ms. N.T.K.H. after treatment at Nhan Tam Dental Clinic

To accurately diagnose and treat patients with ectodermal dysplasia syndrome, doctors must be experienced, knowledgeable about the clinical manifestations of this syndrome to intervene and give a method. the most appropriate and effective treatment. If someone in your family or lineage has ectodermal dysplasia, your doctor recommends that you see a doctor. During pregnancy, you should also visit a doctor for advice and take pictures to diagnose the disease while the baby is still in the womb to prevent this syndrome.