Congenital ectodermal dysplasia syndrome in children

Introduction to congenital ectodermal dysplasia syndrome in children Congenital ectodermal dysplasia syndrome (congenitalectodermal dysplasiasyndrome), also known as congenital ectodermal defects, is a congenital disorder of ectodermal developmental defects involving the skin and its accessory structures such as the teeth and eyes, or the central nervous system. The system can sometimes be accompanied by other anomalies. basic knowledge The proportion of illness: 0.0003%-0.0005% Susceptible people: children Mode of infection: non-infectious Complications: multiple finger deformity, heat stroke, mental retardation, ataxia, dysphagia

Causes of congenital ectodermal dysplasia syndrome in children

(1) Causes of the disease

The etiology of this disease is unknown. Some people think that it is a disease caused by autosomal dominant and sexual joint recessive inheritance.

(two) pathogenesis

Goeckerman believes that the sudden loss of embryos in the third to fourth months is one of the reasons. It is generally believed to be related to genetic factors. There have been reports of abnormalities in female ectodermal development and inversion of chromosome 9 arm, and 4 reports reported by Lu Bingqing. The chromosomes are normal, and there are controversies about the inheritance mode. The male disease is obviously dominant, and only 10% of the females are in women. However, in women, there are incomplete types. The skin of the child is atrophied and thinned, the dermis is thinned, and the sweat tube and sweat glands are mostly absent. Hair follicles and sebaceous glands are also reduced, but collagen fibers and blood vessels are not abnormal, autosomal dominant inheritance, homozygous type can be fatal, and some people divide it into 4 types:

1. Concomitant recessive hereditary men with typical symptoms, the most common.

2. Concomitant recessive hereditary women are genetic carriers with only partial symptoms.

3. Autosomal recessive hereditary keratosis, tooth dysplasia, less sweat, often combined with mental retardation, parents are close relatives.

4. Autosomal dominant inheritance is similar to sweat type, both sexes are sick, mental retardation, often multiple finger toes, and finger toe deformity.

Prevention of congenital ectodermal dysplasia syndrome in children

The etiology of this disease is still unclear. According to the prevention method of congenital diseases, preventive measures should be carried out from pre-pregnancy to prenatal:

Pre-marital medical examination plays an active role in preventing birth defects. The size of the effect depends on the examination items and contents, including serological examination (such as hepatitis B virus, treponema pallidum, HIV) and reproductive system examination (such as screening for cervical inflammation). General medical examinations (such as blood pressure, electrocardiogram) and asking about the family history of the disease, personal medical history, etc., do a good job in genetic disease counseling.

Complications of congenital ectodermal dysplasia syndrome in children Complications, multiple fingers, deformity, heatstroke, mental retardation, ataxia, dysphagia

There is a periarthritis, there may be refers to, lack of finger or multi-finger malformation, pronunciation hoarseness, decreased sense of smell, easy to heat stroke, infants and young children may have febrile seizures, combined with mental retardation, Friedreich ataxia, nystagmus, brain stem development defects Etc. If there is dysplasia of the mucous glands in the respiratory tract and gastrointestinal tract, it may increase the susceptibility to infection, cause difficulty in swallowing, and may show stomatitis and diarrhea.

Pediatric congenital ectodermal dysplasia syndrome symptoms common symptoms palmar keratosis excessive ataxia loss of seasoning hypothermia hair thinning thumb keratoconjunctivitis xenonitis dentition sparse lacrimal gland undeveloped convulsions

1. Toenail dysplasia This symptom is characterized by dysplasia of the nail, rough, turbid, central depression of the deck, dry and crisp or shedding, and chronic regenerative peri-inflammatory.

2. Sweat glands and sebaceous glands less sweat glands and sebaceous glands are less common, the skin is thin, dry, and the palmar keratosis is excessive.

3. Missing teeth or dysplasia of the teeth.

4. The hair is sparse and the hair is sparsely weak or absent, the eyebrows are sparse or 2/3 is hairless, and the eyelashes are less.

5. Patients with lacrimal gland dysplasia are prone to conjunctiva and the cornea is dry.

6. Others In addition, some cases are accompanied by mesoderm or endoderm developmental defects, such as finger, finger or multi-finger malformation, mucosal atrophy, loss of taste, hoarseness, atrophic rhinitis, and decreased olfactory.

Clinically, there are two types of sweat type and sweat-closure type. The symptoms of sweat-absorbent type are heavier. Because of the inability to regulate body temperature, the body temperature rises in summer, and it may be like heat syndrome or heatstroke. Infants and young children may have febrile seizures. %~30% combined with low intelligence.

Clinically, there are often different manifestations and incomplete penetrance. Not every case has all the characteristics. In addition, there are reports of rare cases including Friedreich ataxia, nystagmus, and brain stem development defects.

Examination of congenital ectodermal dysplasia syndrome in children

General routine examination without abnormalities, skin biopsy epidermis, dermal atrophy and thinning, lack of sweat ducts and sweat glands, hair follicles and sebaceous glands, collagen fibers and blood vessels are normal.

1. X-ray examination see missing teeth or with fingers, missing fingers and multiple fingers and other deformities.

2. Sweating test confirmed abnormal sweat gland function.

Diagnosis and diagnosis of congenital ectodermal dysplasia syndrome in children

There are sweat glands, hair, deck abnormalities, cone teeth are very helpful in the diagnosis of this disease, plus sweat gland function test, skin biopsy can confirm the diagnosis if necessary.

Distinguish from the syndrome of heat syndrome, the child has no abnormal development of the nail, no excessive keratosis, missing teeth or conical teeth, and only the summer body temperature rises.

The material in this site is intended to be of general informational use and is not intended to constitute medical advice, probable diagnosis, or recommended treatments.