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Aquagenic keratoderma in a 8 year-old girl

Question
Hello,
My 8 year-old daughter has, since December 2012, an Aquagenic keratoderma (she is unable to keep her hands in the water, after a few minutes a painful unbearbale swelling occurs).
The dermatologist in the hospital confirmed this, prescribed a sweat test (the result was 26) and now advocates a genetic research of cystic fibrosis in the blood.
We are very worried by the upcoming result and of course by our daughter’s future. Are there isolated cases of keratoderma without cystic fibrosis? If keratoderma is the "only" symptom, is it possible that our daughter is a heterozygous carrier of the disease? Or carrying a "less serious" form (if it exists)? Thank you for enlighting us in what seems a long tunnel of uncertainty and fears.
Answer
Hello,
The symptoms you described correspond actually to the Aquagenic palmoplantar keratoderma which can easily be confirmed by the so called bucket test. The patient is asked to soak his/her hands in tap water (cold or warm) for 3 minutes. Diagnosis is confirmed by the presence of whitish papules or hyperwrinkling of palms and oedema associated sometimes with tingling and itching more or less annoying but rarely painful.
It is a syndrome, i.e. a set of symptoms that can have several causes. The frequency of this syndrome in the general population is not known. It was initially observed in patients with cystic fibrosis, but it can be "idiopathic" i.e. isolated and unrelated to a particular disease. In that case, the only treatment is treatment of the symptoms if they are troublesome.
Regarding your daughter, the diagnosis of cystic fibrosis is unlikely because:
- She does not seem to have respiratory or digestive symptoms suggestive of cystic fibrosis;
- And her sweat test is negative (it is not necessary to repeat it if it was made according to the best practices by an experienced person).

The search for CF mutations can be useful if there is doubt because of suggestive clinical symptoms of the disease. Three possibilities:
- The presence of two CFTR mutations: the cases of cystic fibrosis with negative sweat test are exceptional: it is most often a moderate form with two CFTR mutations, one of which is partly functional.
- Presence of a single CFTR mutation: it is the case of many healthy carriers (about 2 millions in France), free of cystic fibrosis but they could pass the gene to their offspring and illness occurs if the spouse also carries a CFTR mutation. The frequency of the syndrome Aquagenic keratoderma in the carrier population is not known.
- No presence of any CFTR mutation: the person is neither sick nor carrier nor at risk of transmitting the mutation to its offspring.
You can find further explanations of this syndrome in a reply I made earlier by clicking on the following link:

ecorn-cf.eu/index.php?id=65&L=0&tx_expertadvice_pi1%5Bshowitem%5D=1257&tx_expertadvice_pi1%5Bsearch%5D=skin


Sincerely.
Dr. Gilles Rault - CRCM Roscoff
03.05.2013