Have you ever heard of TSPEAR-related ectodermal dysplasia?
If you are one of the 15 individuals on our database with that diagnosis, you definitely have. But, this may be a “new” type for everyone else in the National Foundation for Ectodermal Dysplasias (NFED) community.
While the gene was first identified in 2016, this is the first time the NFED is publishing information about this particular syndrome. Check out our new landing page for a complete description of TSPEAR-related ectodermal dysplasia.
Learn About TSPEARWhat Causes TSPEAR-related Ectodermal Dysplasia?
It’s also called “ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis.” It’s caused by changes in the TSPEAR gene which is why it’s more commonly called TSPEAR-related ectodermal dysplasia. The name also reflects a shift in the last few years in the genetics community to call syndromes by the changed gene that causes them versus the symptoms of the syndrome or the name of a person who first identified the syndrome. For example, you may have heard the NFED call ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome a P63 condition since that is the gene involved with that type.
People with TSPEAR-related ectodermal dysplasia typically exhibit three main characteristics: missing teeth (hypodontia), sparse hair and normal sweating. However, what makes it confusing is that some people with TSPEAR-related ectodermal dysplasia, like Blakeleigh and Saaj below, report having issues with sweating, too. Some affected individuals have nail abnormalities and others have different facial features. It’s inherited as an autosomal recessive condition meaning each parent has a change in the TSPEAR gene that they pass to the affected child.
Two moms shared their journey in having a child diagnosed with this more rare type of ectodermal dysplasia.
A Mother’s Perspective: Blakeleigh’s Diagnosis Journey
By Becca J.
Finding out your kid has a condition can be scary, and bring on all the emotions. When Blakeleigh was little, we knew something was not quite right but did not know what it was. We chalked it up to “it’s just because she’s red headed.”
She was not developing like her two older sisters had. Her sisters were teething before six months old. Blakeleigh did not have a single tooth before she was 18 months. Blakeleigh was always red in the face, but again I just said, “she’s red headed.”
When we went to Blakeleigh’s first dentist appointment, this is where our journey began. The dentist asked us, “Did she have or has anybody ever mentioned ectodermal dysplasia?” He explained the gist of it and told us to ask our primary care physician (PCP).
We went to a geneticist local to us, who did one test. They said, “If it walks like a duck and talks like a duck, it’s a duck!” I was not happy with this.
Blakeleigh did not sweat, had thin hair, her nails grew in layers, she was missing teeth and other teeth were conical shaped. So, we were sent to Vanderbilt University by our PCP.
Here, Blakeleigh was genetically tested, as well as myself and my husband. She was diagnosed with TSPEAR-related ectodermal dysplasia.
From Sadness to Acceptance
When it all started, Blakeleigh was very upset. Why would she have it and not her sisters? Why could she not play outside whenever she wanted? She was sad about having a genetic condition.
Now, Blakeleigh loves to get the emails saying she helped someone else get their diagnosis. She loves that there are others who have similar stories to hers.
It’s hard to watch your child not understand something and question, “why them?”. However, without this journey, I don’t think she would be where she is today with her mindset of her diagnosis!
Another Family’s Experience: Saaj’s Story
By Marie P.
Saaj was diagnosed when he was around one year old. (He’s four years old now). I expressed my concerns to his pediatrician, who referred me to genetics. Apparently, his father and I both carry the mutated TSPEAR gene. This made it a 50% chance that Saaj would carry the changed TSPEAR gene and a 25% chance that he would be affected.
Due to his diagnosis of TSPEAR-related ectodermal dysplasia, Saaj has sparse hair (at age 1-2) which by the way has now grown into a full head of hair. He has eczema, which is treated by a dermatologist, and is under control and has gotten sooo much better. You can’t even tell he has it most times, only if there is a flare up!
He does have conical teeth and he sees a dentist every six months. He has not yet gotten an X-ray due to the fact that he will not sit still. We’re not sure if his adult teeth will grow in pointed as well. Also, Saaj is missing two teeth, the ones next to his front teeth. They did not grow in. If that is the case when his adult teeth come in, dentists told me that there are so many things they can do to help when the time comes.
Saaj gets overheated fast. With ectodermal dysplasia, I’m sure you know that they don’t produce as many sweat glands. He sometimes needs to take it easy in too much sun or at play time.
Facing the Unknown
Saaj also has an appointment with audiology this month, because they want to monitor his hearing. His hearing is fine as of now, but in some cases, this type of ectodermal dysplasia can lead to some hearing loss.
I wish there was a handbook on how to deal with ectodermal dysplasia*, I really do. But, when Saaj got his diagnosis, they basically told me for lack of better words, we’re on our own. They gave me a ton of resources as far as outreach programs, the NFED being one of them. Everything else, I would assume, goes off of the symptoms of the child, being as though ectodermal dysplasia is such a broad spectrum and they are still learning so much. In all the ways Saaj was affected, I found my own doctors and treatments, sad to say.
One thing I might add as well that could be helpful. Saaj also was diagnosed with autism in January 2023, when he was two. This is another battle that we tackle day to day. I’m not sure if the two are in some way linked, but I would sure like to do some more research.
Learning More Together about This Newer Ectodermal Dysplasia
The NFED is not aware of any correlation between TSPEAR-related ectodermal dysplasia and autism. However, this is a newer type of ectodermal dysplasia and no research has been done to study whether the two are related. It’s always possible for someone to have both symptoms but it doesn’t mean they are connected. The NFED continues to learn more about the various ectodermal dysplasias. We are hopeful that the ectodermal dysplasia registry we plan to launch in the near future will help us increase our understanding of all syndromes. If you know of someone who is affected by TSPEAR-related ectodermal dysplasia, please invite them to register with the NFED.
TSPEAR-related ectodermal dysplasia may be rare and only identified in recent years. But the experiences of families like Blakeleigh’s and Saaj’s highlight the importance of awareness, early diagnosis, and community support. As we continue to learn more about this condition, the NFED remains committed to providing resources, sharing stories, and connecting individuals and families who are navigating similar paths. You are not alone! Together, we can help each other find answers.
Learn about TSPEAR* Because of the large number of ectodermal dysplasias and their long list of symptoms, the NFED doesn’t have just one handbook. However, we do offer a large number of resources to help guide you on your journey throughout the website. The learn section and the library are great places to start. When you have a question or feel overwhelmed, please call our office at 618-566-2020. We’re happy to help, listen and answer your questions.
The connection between TSPEAR and ectodermal dysplasia is a big step forward in understanding these complex conditions. It’s encouraging to see both research and legislation like ELSA moving forward together—progress on both fronts really matters.