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Sweating ability of patients with p63-associated syndromes
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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EEC syndrome is characterized by split hand/foot deformity, light-colored sparse coarse dry hair, sparse eyebrows and eyelashes, thin brittle nails, xerosis with variable sweating, and cleft lip/palate.
“Characteristic features include split hand/foot deformity (ectrodactyly),[50] light-colored hair that is sparse, coarse, and dry, sparse eyebrows and eyelashes, thin, brittle nails, xerosis with variable sweating[51] and cleft lip/palate [Figure 4].”
From Ectodermal Dysplasia – An Overview and Update (2024) · cites this paper as [51]
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Research works printed but not linked: 11
- Brunner HG, Hamel BC, van Bokhoven H (2002) The p63 gene in EEC and other syndromes. J Med Genet 39:377–381 · DOI
- Burger K, Schneider AT, Wohlfart S, Kiesewetter F, Huttner K, Johnson R, Schneider H (2014) Genotype-phenotype correlation in boys with X-linked hypohidrotic ectodermal dysplasia. Am J Med Genet Part A 164:2424–2432 · DOI
- Celli J, Duijf P, Hamel BC, Bamshad M, Kramer B, Smits AP, Newbury-Ecob R, Hennekam RC, van Buggenhout G, van Haeringen A, Woods CG, van Essen AJ, de Waal R, Vriend G, Haber DA, Yang A, McKeon F, Brunner HG, van Bokhoven H (1999) Heterozygous germ line mutations in the p53 homolog p63 are the cause of EEC syndrome. Cell 99:143–153 · DOI
- Dietz J, Kaercher T, Schneider AT, Zimmermann T, Huttner K, Johnson R, Schneider H (2013) Early respiratory and ocular involvement in X-linked hypohidrotic ectodermal dysplasia. Eur J Pediatr 172:1023–1031 · DOI
- Gagnon D, Kenny GP (2012) Sex difference in thermoeffector responses during exercise at fixed requirements for heat loss. J Appl Physiol 113:746–757 · DOI
- Hammersen JE, Neukam V, Nüsken KD, Schneider H (2011) Systematic evaluation of exertional hyperthermia in children and adolescents with hypohidrotic ectodermal dysplasia: an observational study. Pediatr Res 70:297–301 · DOI
- Mishra A, Greaves R, Massie J (2005) The relevance of sweat testing for the diagnosis of cystic fibrosis in the genomic era. Clin Biochem Rev 26:135–153
- Russo C, Osterburg C, Sirico A, Antonini D, Ambrosio R, Würz JM, Rinnenthal J, Ferniani M, Kehrloesser S, Schäfer B, Güntert P, Sinha S, Dötsch V, Missero C (2018) Protein aggregation of the p63 transcription factor underlies severe skin fragility in AEC syndrome. Proc Natl Acad Sci U S A 115:E906–E915 · DOI
- Schneider H, Hammersen J, Preisler-Adams S, Huttner K, Rascher W, Bohring A (2011) Sweating ability and genotype in individuals with X-linked hypohidrotic ectodermal dysplasia. J Med Genet 48:426–432 · DOI
- Schneider H, Faschingbauer F, Schuepbach-Mallepell S, Körber I, Wohlfart S, Dick A, Wahlbuhl M, Kowalczyk-Quintas C, Vigolo M, Kirby N, Tannert C, Rompel O, Rascher W, Beckmann MW, Schneider P (2018) Prenatal correction of X-linked hypohidrotic ectodermal dysplasia. New Engl J Med 378:1604–1610 · DOI · Paper page
- Tadini G, Santagada F, Brena M, Pezzani L, Nannini P (2013) Ectodermal dysplasias: the p63 tail. G Ital Dermatol Venereol 148:53–58
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Ectodermal Dysplasia – An Overview and Update
Dev, A., Malhi, K., & Mahajan, R. (2024) · Indian Dermatology Online Journal · doi:10.4103/idoj.idoj_599_23 · Cited by 19
“[49] Characteristic features include split hand/foot deformity (ectrodactyly), [50] light‑colored hair that is sparse, coarse, and dry, sparse eyebrows and eyelashes, thin, brittle nails, xerosis with variable sweating [51] and cleft lip/palate [Figure 4].”
Background
Metadata
- Authors
- Ferstl, P., Wohlfart, S., & Schneider, H.
- Affiliations
- Friedrich-Alexander-Universität Erlangen-Nürnberg (DE)
- Corresponding author
- Schneider, Holm
- Venue
- European Journal of Pediatrics
- Published
- 2018-08-07
- Volume
- 177
- Issue
- 11
- Pages
- 1727-1731
- ISSN
- 0340-6199 (ISSN-L)
- 1432-1076
- OpenAlex
- W2887811376
- Cited by
- 8
- References
- 0
- Citations by year
- 2026: 1 · 2024: 3 · 2022: 1 · 2021: 1 · 2020: 1 · 2019: 1
- FWCI
- 0.46
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- European Journal of Pediatrics (publishedVersion)
- PubMed (publishedVersion)
- Funders
- German-Swiss-Austrian ectodermal dysplasia patient organization
- Topics
- Health Sciences › Medicine › Dermatology › Genetic and rare skin diseases.
- Health Sciences › Dentistry › General Dentistry › dental development and anomalies
- Health Sciences › Medicine › Dermatology › Sympathectomy and Hyperhidrosis Treatments
- Keywords
- hypohidrosis, sweat gland density, genotype-phenotype correlation, hyperthermia prevention, confocal laser scanning microscopy
- MeSH terms
- Adolescent, Adult, Child, Child, Preschool, Cleft Lip, Cleft Palate, Ectodermal Dysplasia, Eye Abnormalities, Eyelids, Female, Humans, Hypohidrosis, Male, Middle Aged, Mutation, Pilocarpine, Sweat Glands, Sweating, Transcription Factors, Tumor Suppressor Proteins, Young Adult, Genetic Association Studies
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