The reason behind children's missing teeth: hereditary ectodermal dysplasia syndrome

The reason behind children's missing teeth: hereditary ectodermal dysplasia syndrome

This is the 5362nd article of Da Yi Xiao Hu

A 1 year and 5 month old boy was brought to the doctor by his mother and grandmother. The reason for the visit was that the child was so late in growing teeth, and only had 2 small teeth in the maxillary front teeth area. These two small teeth began to erupt when the child was 12 months old. The teeth were pointed and cone-shaped, and the shape was a bit strange. After 5 months, the child still had no other new teeth. The mother was very worried and wanted to know what caused the child's teeth to "erupt late"!

The first impression was that the child's hair and eyebrows were sparse, and the lips were thick. Two symmetrical small conical teeth were visible in the maxillary anterior teeth area. We inquired about the medical history in detail. The child was 37 weeks old, delivered naturally, and weighed 3kg at birth. History of allergies: None. There is a history of long-term nasal congestion and neonatal eczema. There have been many unexplained low fevers, little sweating on weekdays, and fear of heat. The parents said that they didn't know that the child was afraid of heat at first. In the summer in the south, the child often behaved very irritably. One day, the child's mother accidentally discovered that she took the child to the air-conditioned room, and the child was much quieter. The careful mother realized that the child was very afraid of heat and rarely sweated. Physical examination: The eyebrow arch and forehead are high, the bridge of the nose is collapsed, the eyebrows and hair are sparse, the lips are everted, thickened and protruding, and the fingernails (toenails) are developed normally. Two symmetrical conical teeth can be seen in the front of the maxilla in the mouth, with sharp cusps, and no other teeth have erupted. In addition to the abnormal maxillofacial development, no obvious abnormalities were found in the child's hands and feet. The child's previous routine health check-up results showed that his motor development was delayed. He was given specialist intervention and recommended to undergo follow-up after evaluation. The child's grandmother said that the child just didn't grow teeth and understood everything he was told. Preliminary diagnosis: The child was considered to have hereditary ectodermal dysplasia syndrome and was recommended to be confirmed by pediatrics. The patient went to a pediatric specialist for treatment and underwent genetic testing, which confirmed the relevant diagnosis.

There are large individual differences in the time of eruption of baby's deciduous teeth. The earliest child may begin to erupt the first deciduous tooth at around 4 months, while the later child may not grow the first deciduous tooth until around 1 year old. This is normal. If the baby develops normally in other aspects, there is no need to worry too much. If the tooth has not erupted after more than 1 year old, it is recommended to seek medical attention in time, consult a professional doctor, conduct relevant examinations, identify the cause and take corresponding measures.

This patient had syndromic congenital tooth agenesis, which is related to hereditary ectodermal dysplasia. Ectodermal dysplasia syndrome is a group of developmental defects caused by ectodermal structural maldevelopment. It mainly affects tissues developed from the ectoderm, including teeth, hair, sweat glands, etc. Tooth loss (no teeth or few teeth) is one of its typical manifestations. Partial or complete loss of deciduous and permanent teeth has a significant impact on the patient's oral function and quality of life. In addition, the hair is sparse (no hair or little hair); the sweat glands are lacking and cannot sweat (little sweat or no sweat).

Missing teeth in children is a matter of great concern to parents. Whether it is the loss of deciduous teeth or permanent teeth, it may affect the child's oral health, chewing function, pronunciation and maxillofacial development. Parents should seek medical examination in time according to the overall development of the child, identify the cause and take appropriate measures.

Author: Department of Stomatology, Affiliated Hospital of Guangdong Medical University

Jia ShujuanDeputy Chief Physician

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