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Ectodermal Dysplasia

Ectodermal Dysplasia
March 15, 2023Genetic conditionAlopeciaChildrenCleft lipHealth

Ectodermal dysplasia is a large group of inherited disorders characterised by a primary defect in hair, teeth, nails or sweat gland function, in addition to another abnormality in any tissue of ectodermal origin. These are ears, eyes, lips, mucous membranes of the mouth or nose, and the central nervous system.

The ectoderm is the outermost layer of cells in embryonic development and contributes to the formation of many parts of the body including all those mentioned above. Ectodermal dysplasia occurs when the ectoderm of certain areas fails to develop normally. All ectodermal dysplasias are present from birth and are non-progressive.

Symptoms –
People with ectodermal dysplasia have a lack of sweat glands. This means they may not sweat or sweat less than normal.

In children with the disease, their bodies may have a problem controlling fevers. When the skin cannot sweat, it is hard for the body to control temperature properly. So even a mild illness can cause a very high fever.

Adults with the disease can’t tolerate a warm environment. Air conditioning and other measures are needed to keep a normal body temperature.

Depending on which genes are affected, other symptoms may include –

Symptoms
Some symptoms


•  Abnormal nails
•  Abnormal or missing teeth, or fewer than normal number of teeth
•  Cleft lip
•  Decreased skin color (pigment)
•  Large forehead
•  Low nasal bridge
•  Thin, sparse hair
•  Learning disabilities
•  Poor hearing
•  Poor vision with decreased tear production
•  Weakened immune system

Types –
There are around 150 types of ectodermal dysplasias that are classified in several different ways. They are sometimes classified by the inheritance pattern (autosomal dominant, autosomal recessive, or X-linked) or according to the ectodermal structures involved i.e. hair, teeth, nails, and sweat glands. Some of the ectodermal dysplasias are as follows –
•  Hypohidrotic Ectodermal Dysplasia (HED)
This is the most common type of ectodermal dysplasia. Persons with HED have a reduced ability to sweat because they have fewer sweat glands than normal or their sweat glands do not function properly. The condition is exclusively manifested in males, though some females may have less severe symptoms.
•   Clouston’s Hidrotic Ectodermal Dysplasia
Also called as Clouston syndrome, this condition is characterized by partial or total.
•  Alopecia (Absence of Hair), dystrophy of the nails, and darkening of the skin especially over the joints. The sweat glands are normal in this type of ectodermal dysplasia.
•  Ectrodactyly-Ectodermal Defects (EEC) – Also known as Cleft Syndrome,EEC is characterized by a congenital absence of some of the fingers or toes, other features of ectodermal dysplasia, and cleft lip or palate.
•  Focal Dermal Hypoplasia (FDH) – Also known as Goltz syndrome, manifestations of this condition include yellow-pink bumps on the skin and pigmentation changes

Causes –

Ectodermal dysplasia run through families
Inherited Disease


The different types of ectodermal dysplasia are caused by the mutation or deletion of certain genes located on different chromosomes. Because ectodermal dysplasias are caused by a genetic defect, they may be inherited or passed on down the family line. In some cases, they can occur in people without a family history of the condition, in which case a de novo mutation has occurred.

Diagnosis –
Tests that may be done include:
•  Biopsy of the mucous membranes
•  Biopsy of the skin
•  Genetic testing (available for some types of this disorder)
•  X-rays of the teeth or bones may be done

Treatment –
There is no specific treatment for this disorder, but symptoms are treated as needed.

Things you can do may include –
•  Wear a wig and dentures to feel more comfortable about appearance.

Treatment options for ectodermal dysplasia


•  Use artificial tears to prevent dry eyes.
•  Use saline nose spray to remove debris and prevent infection.
•  Take cooling water baths or use water sprays to keep a normal body temperature. Water evaporating from the skin replaces the cooling function of sweat evaporating from the skin.

Health Tips –
•  Go for a complete dental evaluation at least twice a year.
•  Try to keep yourself in a cool environment. Your workplace, home and school should be properly air-conditioned.
•  Go for genetic counseling sessions if you are planning a baby and the condition runs in your family.
•  Proper skin care and monitoring for signs of infection in patients with chronic scalp dermatitis and erosions should be done

For more informative articles on Ayurvedic herbs and other health related issues, please visit our website www.santripty.com and also YouTube channel https://youtube.com/@santripty and feel free to consult with our experienced team of doctors, get benefits and stay healthy.

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