Hypohidrotic ectodermal dysplasia
A family carrying the X-linked gene for hypohidrotic ectodermal dysplasia (hereditary ectodermal polydysplasia or Christ-Siemens-Touraine syndrome) over three generations was monitored for more than 15 years. Two prenatal diagnoses were carried out by fetoscopy on skin biopsies. Polymorphic probes were used in the segregation analysis of the Xq11–21 region carried out on 30 members of the family. Current screening possiblitities for the carriers and prenatal diagnosis are discussed.
Unable to display preview. Download preview PDF.
- Arnold ML, Antom-Lamprecht I, Rauskolb R (1984b) Prenatal diagnosis of ectodermal dysplasias. Semin Dermatol 3:247–252Google Scholar
- Blanchet-Bardon C, Nazzaro V (1987) Use of morphological markers in carriers as an aid in genetic counselling and prenatal. Curr Probl Dermatal 16:109–119Google Scholar
- Blaschko A (1910) Die Nervenverteilung in der Haut in ihrer Beziehung zu den Erkrankungen der Haut. Braumüller, Wien LeipzigGoogle Scholar
- Blique M (1975) Contribution à l'étude de la dysplasie ectodermique. Thése Chir DentGoogle Scholar
- Darwin C (1875) The variations of animals and plants under domestication, 2nd edn. Murray, LondonGoogle Scholar
- Hanauer A, Alembik Y, Arveiler B, Formiga L, Gilgenkrantz S, Mandel JL (1988a) Genetic mapping of hypohidrotic ectodermal dysplasia: linkage to DXS151 and DXYS1. Cytogenet Cell Genet 46:626Google Scholar
- Holbrook KA, Hoff MS (1984) Structure of the developing human embryonic and fetal skin. Semin Dermatol 3:185–202Google Scholar
- Juhlin L, Shelley WP (1967) A stain for sweat pores. Nature 312:408Google Scholar
- Reed WB, Lopez DA, Landin GB (1970) Clinical spectrum of anhidrotic ectodermal dysplasia. Arch Dermatol 102:132–143Google Scholar
- Soderholm AL, Kaitila I (1981) Expression of X-linked hypohidrotic ectodermal dysplasia in six males and their mothers. Clin Genet 28:136–144Google Scholar
- Thurman J (1948) Two cases in which the skin, hair and teeth were very imperfectly developed. Medico-Chir Trans 31:71Google Scholar