Other

Breast and Nipples

In some cases abnormalities have been reported, including the absence or under-development of nipples or of the breasts. In female carriers of X-Linked Hypohidrotic Ectodermal Dysplasia, there may be marked asymmetry of the breasts. A breast augmentation may be considered and should be carried out within the NHS.

Constipation

Some people may suffer constipation caused by too few or non-functioning mucus-producing glands in the intestines. It is also possible to pass very loose stools – like diarrhoea – when you have constipation. As stools build up and harden in the bowel, it becomes more difficult to pass a motion. Liquid stool can seep around the hardened stool, giving the impression that you have diarrhoea. This is often called ‘constipation with overflow’. It is important to drink plenty of fluids to help soften the stool and prevent dehydration.

Kidney, Bladder and Urinary System

In some cases, individuals who have one of the rarer Ectodermal Dysplasia Syndromes may have genitourinary anomalies. Virtually any part of the genitourinary tract can be involved.

Feeding

Many babies affected by Ectodermal Dysplasia have early feeding problems, the worst of which are vomiting, choking and fractiousness due to overheating. Please see the section The First Years for more information.

Eating and Drinking

Due to missing or misshapen teeth and lack of saliva, many individuals affected by Ectodermal Dysplasia have difficulty eating. They may not chew properly and tend to try and swallow larger portions of food than is normal, possibly causing them to choke very easily. In addition to this they may lack some of the glands within the throat and gullet which means that food easily lodges in the throat and leads to choking, so all meal times must be fully monitored.

Many children manage a normal diet even without teeth, but others find many foods difficult to swallow, particularly dry food and rice. Pasta is a good substitute for rice.

Hypomobility

Joint pain, together with hypomobility (a joint does not move well) or hypermobility (a joint that easily moves beyond the normal range), have been experienced by some individuals who are affected by Ectodermal Dysplasia. Changes in the weather play a significant part in causing joint pain, particularly in cold weather.

Muscle Weakness

Muscle weakness is a common complaint, but the word weakness has a wide range of meanings, including tiredness, reduced power and failure to work at all. There is a wide range of possible causes. In Ectodermal Dysplasia this has been experienced by many children and is caused by high or low temperatures. Exercise intolerance is often experienced and may be manifested by muscle pain (myalgia), burning legs, cramps, fatigue, stiffness and sometimes weakness; the onset of attacks is sudden, and an individual’s temperature can increase rapidly when exercising. A severe exercise intolerance syndrome is accompanied by vomiting, muscle weakness and stiffness, inability to walk and sometimes seizures. Individuals affected by Ectodermal Dysplasia do not usually have problems with muscle strength.

Joint Pain

Joint pain, together with hypomobility (a joint does not move well) or hypermobility (a joint that easily moves beyond the normal range), have been experienced by some individuals who are affected by Ectodermal Dysplasia. Changes in the weather play a significant part in causing joint pain, particularly in cold weather.

Speech Problems

Absent, widely spaced or misshapen teeth may cause a child to mispronounce certain sounds. Similarly, hearing problems may cause difficulties with speech; in these cases, speech & language therapy (SALT) may be necessary.

A dry mouth, from lack of saliva, may also influence speech, as does cold weather in the winter months and dryness in the air at any time of year. Some individuals affected by Ectodermal Dysplasia have experienced weak muscles in the mouth, throat, and/or soft palate, which may also cause speech problems, while some Ectodermal Dysplasia syndromes are associated with a cleft (gap or hole) in the palate. It is important to seek medical help to deal with speech imperfections as these may have an impact on education.

Information

Whether you have just received a diagnosis or have lived with Ectodermal Dysplasia all your life and are seeking information and support, it is the aim of the ED Society to help you find all the answers you are seeking.

The ED Society aims to:

  • obtain answers from Medical professionals to members’ specific questions
  • support families when they approach organisations such as Local Authorities, Social Services, etc., by putting together a personal report explaining very simply how ED affects them
  • liaise with Head Teachers, Health Authorities and medical professionals to
    help families obtain the right care for their child in school, such as full or part time Carers, fans, air-conditioning, etc.,
  • help more families obtain Disability Living Allowance, Personal Independent Payment, Disability Carers Allowance, etc.,
  • support members with their fundraising
  • help families obtain information regarding ante-natal testing
  • ensure the ED Society is on the databases of Health Authorities, NHS Trusts, Health organisations, etc.

To find such information please follow the links on the left-hand side. 

Become a member which only takes a couple of minutes or alternatively email us or telephone 01242 261332 

Download ouLiving with ED leaflet

Download our Living with Ectodermal Dysplasia document