Sweat testing to identify female carriers of X linked hypohidrotic ectodermal dysplasia.
Open Access
- 1 May 1991
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 28 (5) , 330-333
- https://doi.org/10.1136/jmg.28.5.330
Abstract
X linked hypohidrotic ectodermal dysplasia (XHED) affects many epithelial functions, including sweat gland formation. Female carriers who manifest XHED may have defective dentition or a patchy distribution of sweating or both, as determined by starch and iodine sweat testing. Such sweat testing can be useful in assigning carrier status to at risk females in XHED families, and in obtaining an accurate diagnosis for isolated females who present with features of ectodermal dysplasia. The advantages of diagnosing female carriers of XHED include the optimisation of neonatal and paediatric care for affected male infants, who may be at substantial risk of death in infancy.Keywords
This publication has 24 references indexed in Scilit:
- The gene for incontinentia pigmenti is assigned to Xq28Genomics, 1989
- Improved definition of carrier status in X-linked hypohidrotic ectodermal dysplasia by use of restriction fragment length polymorphism-based linkage analysisThe Journal of Pediatrics, 1989
- Anhidrotic and achromians lesions in incontinentia pigmentiBritish Journal of Dermatology, 1987
- A simple technique for recording and counting sweat pores on the dermal ridgesClinical Genetics, 1986
- HYPOHIDROTIC ECTODERMAL DYSPLASIA AND SUDDEN INFANT DEATHThe Lancet, 1981
- Christ-Siemens-Touraine syndrome—a clinical and genetic analysis of a large Brazilian kindred: I. Affected femalesAmerican Journal of Medical Genetics, 1979
- Hypohidrotic ectodermal dysplasia: A study of sweat pores in the X-linked form and in a family with probable autosomal recessive inheritanceThe Journal of Pediatrics, 1971
- HYPOHIDROTIC (OR ANHIDROTIC) ECTODERMAL DYSPLASIA—AN APPRAISAL OF DIAGNOSTIC METHODS*British Journal of Dermatology, 1970
- Gene effect in carriers of anhidrotic ectodermal dysplasia.Journal of Medical Genetics, 1966
- Sudorific Action of Adrenalin on the Human Sweat Glands and Determination of Their ExcitabilityScience, 1950