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Sweating ability of patients with p63-associated syndromes

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Abstract

Sweating deficiency has been reported to represent a cardinal symptom of ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome and ankyloblepharon-ectodermal dysplasia-cleft lip/palate syndrome, two rare p63-associated disorders. According to online resources, hypohidrosis may lead to most life-threatening complications in affected patients. Thus, counseling on the prevention of hyperthermia would be indispensable in case of such syndromes, although detailed information on this issue is missing in the literature. We investigated 14 individuals with ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome (age range 2–48 years) and 9 individuals with ankyloblepharon-ectodermal dysplasia-cleft lip/palate syndrome (0.5–60 years of age) by confocal laser scanning microscopy to determine their palmar sweat duct density and by quantification of pilocarpine-induced sweating. Genotype-phenotype correlations were assessed. In 12 of 23 patients (52%), a normal amount of sweat ducts was detected. These individuals (9 with ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome, 3 with ankyloblepharon-ectodermal dysplasia-cleft lip/palate syndrome) produced sufficient sweat volumes (≥ 20 μl) in response to pilocarpine. All other patients had clearly reduced sweating ability and fewer sweat glands, but no anhidrosis. Alteration of a specific proline residue (Pro590) of p63 was consistently linked to impaired perspiration.

Conclusion: Hypohidrosis in p63-associated syndromes is less common and potentially less severe than previously thought and may be attributable to certain genotypes.

What is Known:

• Hypohidrosis which has been listed as a cardinal symptom of AEC and EEC syndromes may lead to life-threatening hyperthermia.

What is New:

• Patients with EEC and AEC syndromes often can sweat normally.

• Hypohidrosis seems to be attributed to certain TP63 genotypes.

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Fig. 1

Abbreviations

AEC:

Ankyloblepharon-ectodermal dysplasia-cleft lip/palate

EEC:

Ectrodactyly-ectodermal dysplasia-cleft lip/palate

SAM:

Sterile alpha motif

DNA:

Deoxyribonucleic acid

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Acknowledgements

We would like to express our gratitude to all individuals who participated in the study.

Funding

This study was funded by the German-Swiss-Austrian ectodermal dysplasia patient organization.

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Authors and Affiliations

  1. Center for Ectodermal Dysplasias, University of Erlangen-Nürnberg, Erlangen, Germany

    Paul Ferstl, Sigrun Wohlfart & Holm Schneider

  2. Department of Pediatrics, University of Erlangen-Nürnberg, Loschgestr. 15, 91054, Erlangen, Germany

    Paul Ferstl, Sigrun Wohlfart & Holm Schneider

Authors
  1. Paul Ferstl
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  2. Sigrun Wohlfart
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  3. Holm Schneider
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Contributions

P.F. and H.S. conceived the study, investigated the patients, and wrote the first draft of the manuscript. Most of the work was performed by P.F. in fulfillment of the requirements for obtaining the degree “Dr. med.” from the Friedrich-Alexander-Universität Erlangen-Nürnberg. S.W. provided essential assistance with the confocal laser scanning microscopy. All authors reviewed the results and approved the final version of the manuscript.

Corresponding author

Correspondence to Holm Schneider.

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Conflict of interest

The authors declare that they have no conflict of interest.

Informed consent

All adult participants provided written informed consent; in the case of minors, parental consent was obtained.

Additional information

Communicated by Peter de Winter

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Ferstl, P., Wohlfart, S. & Schneider, H. Sweating ability of patients with p63-associated syndromes. Eur J Pediatr 177, 1727–1731 (2018). https://doi.org/10.1007/s00431-018-3227-6

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  • DOI: https://doi.org/10.1007/s00431-018-3227-6

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