Complete expression and normal fertility in a woman with X-linked hypohidrotic ectodermal dysplasia associated with t(X;19)

We report on a woman with normal fertility and characteristic clinical expression of X-linked hypohidrotic ectodermal dysplasia (HED) associated with an X;19 translocation. She was reported on previously (Gorlin, et al., Z Kinderheilk, 1970) as an example of autosomal recessive inheritance of HED. The purpose of this report is to provide follow up to the paper of Gorlin, et al. and to document vertical transmission from an affected female, which to our knowledge is the first such report. The proband presented at age 30 years for preconception counseling of inheritance of HED. On physical examination, she was edentulous, with very sparse scalp hair, eyebrows and eyelashes, hyperkeratosis of the face, fingers and soles, and absence of sweat glands by visual inspection. Karyotype was 46,XX,t(X;19)(q11;q13.4). She subsequently became pregnant, and chorionic villus sampling showed the fetus to have a 46,XY,t(X;19)(q11;q13.4) karyotype. Based on these findings, autosomal recessive inheritance does not apply in this individual. Although some cases of autosomal recessive inheritance of HED are believed to occur, it is likely that many of the fully-manifesting females reported previously actually have an X-autosome translocation, similar to our patient and 3 others reported recently. X-autosome translocations are usually associated with gonadal dysgenesis and infertility, especially when it involves breakpoints between Xq13 and Xq26. The findings in this patient tend to support the assignment of the ovarian dysgenesis locus telomeric to Xq11. However, in regard to the HED locus, the q11 breakpoint is centromeric to the HED region identified in previous reports. The findings in this patient suggest that (1) many cases of autosomal recessive HED may be the result of X-autosome translocations; (2) fertility in some fully-manifesting females may be normal; and (3) study of cases such as the one herein presented may provide important clues to the location of both the HED and ovarian dysgenesis loci.