New here. No diagnosis. Question about testing?

[Stacey James]

Hi. I know that you all, unfortunately, have a lot of experience and knowledge about CF so I hope you don't mind me crashing your party.

My son just turned 18 yrs old. A while ago, he brought this white bubbly rash on his palms to my attention. You know where I'm going with this. I did some googling and brought him to the dermatologist. He immediately confirmed my amateur diagnosis of Aquagenic Wrinkling of the Palms. My son said that they really start to hurt after his shower and the skin just falls off. The doctor prescribed some Aluminum Chloride solution to apply to his palms but my son never uses it. He has high functioning Autism which throws another wrench into all of this!

The dermatologist didn't seem alarmed but said he would refer us for a genetic consultation at Yale if I wanted to go that route. I definitely want to get this checked out. Naturally, I'm a bit worried. I don't think my son was tested at birth and neither my husband or I have ever been tested. No family history that we are aware of -- but my husband has never met his father or anyone on the paternal side of his family.

Do you know what the odds are that this is linked to CF? Is it likely to be just a fluke? Am I doing the right thing by pursuing this? Also, please inform me as to what sort of testing I should be sure to have done.

Best to all of you -- and thanks!

Stacey

 

[Rebjane]

Hi Stacey,

Is that your son's only symptom?

 

[Stacey James]

Hi Stacey,

Is that your son's only symptom?

Pretty much, I think -- although, he has been having a wet cough just recently, of course. He had ongoing sinus issues forever. He sees a psychiatrist and his his first bloodwork ever done. It was fine except for high triglycerides and low vitamin D.


Ironically, my youngest child, who is 12, had a sweat test performed when he was hospitalized as an infant because he was "Failure to thrive", vomiting constantly, horrendously slow digestive system (evidently, the worst case of gastroparesis the ped. GI at Yale had ever seen), among other red flags. The sweat test was negative. I don't think other tests (other than various scans and scopes) were performed. Finally diagnosed with severe GERD. He's my kid who has had the most breathing issues -- asthma, multiple bouts of pneumonia, bronchitis, etc.

 

[Ratatosk]

Does your youngest child still have symptoms and does he have issues with the Aquagenic Wrinkling? Might be wise to have both of them tested.

 

[LittleLab4CF]

Super sweaty palms and feet are not universal with CF. In fact we CFers have very salty/sweaty palms and feet but aquagenic wrinkling is still a pretty extreme CF issue. My CF is mild, part of why I evaded diagnosis for fifty odd years but God my hands sweat. I'd make a lousy thief because my sweat is so concentrated that my finger prints instantly etch any metal surface I touch. As a teen if I borrowed my parent's car, part of the permission came with the understanding that I would wipe down the steering wheel when I was done. It was so extreme that if I forgot to clean the steering wheel, even from a fifteen minute drive, it was instantly caught and I was up cleaning the crusted salt at six in the morning.

Symptoms spread across siblings like digestive issues with one, pulmonary indications in another and several shared issues like small duct disease and chronic sinusitis needs to be evaluated with prejudice. If you've raised a child to early adulthood, you are probably not going to be easily fooled. In medicine and genetics the assumption is that different issues or genetics are unrelated until proven otherwise. As a parent(s) some critical thinking will yield a quality answer to move forward with.

In my case, my father probably had CF. Neither of my siblings showed symptoms but I was becoming the medical miniature of my father. He and I followed a similar time line of disease progression. In his day, everybody smoked. As a kid I recall several times when my dad and doctor would stand in the office hallway discussing me while smoking a cigarette! During his late forties he became pancreatic insufficient as did I in my late forties. The state of medicine was not able to respond to this problem in the short 3 months after it suddenly occurred he died shortly after his 48th birthday from malnutrition and pneumonia. Probably because of medical advances and never, ever smoking, my life has been longer and healthier.

There's a type of tissue that infiltrates the other tissue types in the neck, generally following and increasing in numbers along the trachea and brochi. This tissue has properties that match thyroid tissue in every way except they can be stimulated by the surrounding tissue in addition to being controlled by the brain.

We have nerves in every sweat gland that react to a metabolic regulating hormone. The sweat glands are supposed to be turned on and off to regulate our body temperature. The sweat glands in hairy skin like the arm pits are different from the non hairy skin like the inside of the forearms or the palms differing from the back of the hand.

The sweat chloride test done in diagnosing CF is done on the non hairy skin because these sweat glands make a pure product of salty water. The stimulus for the two types of sweat glands usually come from the thyroid gland but the palms and feet could be stimulated by the thyroid cells infiltrating the tissue surrounding the airway. This is either the result of something stimulating the cells like infection or allergy or more likely the result of an autoimmune condition that is one of the potential joys of being born with a functional error in the CFTR gene or genes.

From my research of papers on aquagenic wrinkling, it's not the easiest thing to treat and there's no easy cure. It can be managed and even treated but it is like many autoimmune diseases, your body is the cause of the problem and the solution can be as unique as the person who is suffering.

Good luck,
LL