Introduction 

Ectodermal Dysplasias (ED) are a collection of rare genetic conditions. This condition typically affects the hair, teeth, nails or sweat glands, as well as the ears, eyes, breast or central nervous system. What relates all these parts of the body, is that they all grow from the ectoderm, which is described as an outer germ layer that forms as an embryo develops.¹

People with ED are born with it and it cannot appear or be caught later in life. However, there are situations where some people are not able to tell if you have it automatically. An example of this is, some newborns show symptoms shortly after birth while others sometimes don’t see symptoms for years.¹ The signs and symptoms seen from patients with ED depends significantly on the type of ED that they are diagnosed with.² This is why it is very important to recognise the signs and symptoms during infancy due to it posing a mortality risk, which is the highest in the first year of life and can remain throughout a patient’s childhood. In addition, it is important to bring awareness among parents and families regarding early management for Ectodermal Dysplasia.^2,3

What are ectodermal dysplasias? 

Ectodermal dysplasia is a group of related disorders, which are called Ectodermal dysplasias. ED is a genetic disorder that affects the teeth, hair, nails and sweat glands. There are up to 180 different types of ectodermal dysplasia that have been found.⁴ ED affects people differently depending on which specified disorder it is. It typically can affect:

• Skin
•  Eyes or ears
• Lining of the airways
•  Development of fingers and toes
• The nerves and other parts of the body⁴

There are common forms of Ectodermal Dysplasias. The most common two are:

Hypohidrotic Ectodermal Dysplasia

This is the most common form. The clinical symptoms that occur are hair and tooth deformities as well as not having the ability to sweat which can cause dangerously high body temperatures. Individuals also have sparse scalp and light brown pigmentation, as well having distinct facial features, such as a prominent forehead, thick lips and a flattened bridge of the nose.^5,6

Hydrotic Ectodermal Dysplasia

This type is also known as Clouston syndrome. This typically affects the hair and nails with reduced amount of teeth and eccrine glands. In infancy, the scalp hair presents itself as fine, sparse and brittle, which leads to hair loss and possible alopecia by the time the child hits puberty. In addition, the nails tend to be milky white in early childhood, but gradually become dystrophic, thick and becomes separated from the nail bed.⁷

In some types, symptoms may be missing teeth and nails, while others present with inability to sweat or hair loss. There are many combinations of deformities in this condition which is why the pattern of these features is important when a healthcare professional tries to make an accurate diagnosis.⁸

Early signs and symptoms in infancy 

If an Ectodermal Dysplasia diagnosis is considered, a healthcare profession such as a physician and dentist would look at five common parts of the body for abnormalities.⁹ There are:

• Hair:

Hair could be reduced in amount or may be a very light shade of colour.⁹

• Nails:

Nails are seen as thick or thin. In addition to abnormally shaped or ridged.⁹

• Skin:

The skin of the child may appear thin, dry and susceptible to rashes, infections and sunburns.⁹

• Sweat glands:

A person’s sweat glands may not work properly. This can lead to a person unable to sweat properly or even overheating.⁹

• Teeth:

Some teeth may be gone or shaped pointed, leaving wide spaces.⁹

Other parts that can be affected are:

• Ears
• Eyes
• Missing limbs or fused together toes and fingers
• Thick secretion in the nose
• Sparse saliva in the throat⁹

Early recognition and diagnosis matters as it may help parents understand the prognosis of the condition and how it might change or impact someone’s life over time. In addition, due to ED being genetic, providing parents with the diagnosis can help them understand what the probabilities are of other family members or potential children being affected with ED.¹⁰

The role of an early diagnosis

There are a few benefits of having an early diagnosis, such as: it can help families and healthcare professionals improve managing an individual with Ectodermal Dysplasia health; and receive follow-ups with the correct doctors and specialists. Early diagnosis can also help families by reducing the feelings of isolation as it helps families find other families with the same type of ED. Additionally, an early diagnosis can give the families an “answer” towards the symptoms can bring some form of relief.¹⁰

Ectodermal Dysplasia is usually noticeable at birth; however, a parent may realise this later on in childhood.¹⁰

• Clinical observation:

A healthcare provider can make a clinical diagnosis of Ectodermal Dysplasia using clinical observations. This means seeking clinical features or medical signs that matches up with Ectodermal Dysplasia. The professional will sort which of the derivatives are involved as ED usually involves more than one.¹⁰

• Family history:

A professional can get overview of a family history to find out if there is an inheritance pattern, because the way that the condition is inherited is often an important factor for a correct diagnosis.¹⁰

• Genetic testing:

Genetic testing may be used. This is when the testing searches for mutations in the genes that could lead to Ectodermal Dysplasias.¹⁰

Challenges parents face 

Sometimes being diagnosed with a genetic condition can lead to social and emotional stress for the person with it and the family of the holder. People who are diagnosed with ED may feel afraid or even angry as it often introduces a significant adjustment to outlook and lifestyle. Family members of a child diagnosed with ED may feel sad and due to the requirements of extra care for a child with this genetic condition. This may also cause a sibling to feel jealous or left out due to the extra attention their sibling is receiving. In addition, parents may feel worried of the unknown, as questions may rise about the risk to their future children or genetic implications for siblings.¹¹

As Ectodermal Dysplasia causes an uncommon appearance such as unusual teeth, sparse hair and lack of temperature control, children with this condition may experience being bullied during childhood.¹¹

Being a parent and caring for a child can bring joy and happiness as well as challenges. Receiving the diagnosis of Ectodermal Dysplasia can bring confusion and anxiety and can also be an emotional roller-coaster in learning about a complex medical condition and coping with the day-to-day management of ED.¹²

It is important for parents to remember that learning anything new is a challenge, which is why parental education is important. According to a study, parents who lacked information associated with their child’s rare condition developed parental insecurity and a lack of confidence in caring for their child. This is why assessing the level of access to information and resources for parents can help them to provide care and knowledge as well as gauge their required level of support by healthcare professionals.¹³

Parental education and support

Ectodermal Dysplasia has various treatments available, which depends on how severe it is. Parents are encouraged to get involved in the management of their child’s rare condition journey.

• Temperature regulation:

As ED can cause an individual to have reduced production of sweat or underdeveloped sweat glands, it is recommended to encourage hydration and wearing light clothing or cooling vests to avoid having a heat stroke.¹

• Dental hygiene:

Depending on the severity of the condition, a healthcare provider may encourage dental or oral surgery. This includes options to replace missing teeth with dental implants. ¹

• Skin and hair care:

ED can affect an individual’s skin and hair growth. A healthcare professional may prescribe medication such as Minoxidil to encourage natural hair growth while with skin care, regular applications of prescribed ointments, creams and lotion may help reduce dry skin.¹

Support groups and communities are vital tools to help parents on their care journey. According to a study, parents note that caring for a child with a rare condition is isolating and brings about a sense of disconnect from mainstream society. Implementing informal support can give parents an opportunity to interact with other parents in similar circumstances. As a result, they receive mutual support and encouragement, as well as a social identity. This is a central importance to parents. In result, support groups and community can help parents feel empowered and supported to manage their child’s healthcare needs.¹⁴

Looking ahead: Long-term outlooks

While there is no cure for Ectodermal Dysplasia, it is important to remember that children with ED can have full normal life spans when symptoms are detected early, receive accurate diagnosis and are provided with a timely management of associated symptoms.⁷ Thankfully, in the past decade there has been an expansion of different approaches to facilitate differential diagnosis of dysplasias. In addition, there have been advances in translational research which has increased the therapeutic opportunities for rare diseases like ED.¹⁵

Knowledge is power, so it is important for parents to empower themselves with knowledge on their child’s condition to identify what is common and what is not. Having knowledge helps to build confidence in oneself in order to escalate the care to healthcare providers when appropriate.¹⁶

Summary

In summary, Ectodermal Dysplasias (ED) are a collection of rare genetic conditions. This condition typically affects the hair, teeth, nails or sweat glands, as well as the ears, eyes, breast or central nervous system. It is oftentimes very recognisable; however, children can present with symptoms later in childhood.^1,10 Early diagnosis and parental education is important as it helps parents feel a sense of empowerment to understand and improve care for their child as well as effectively advocate on their child’s behalf. As there are gradual improvements in diagnostic approaches and therapeutic opportunities for ED, as well as access to family support, families can have the chance to provide their child a positive quality of life.^14-16