Clinical findings in mosaic carriers of hypohidrotic ectodermal dysplasia

Stefano Cambiaghi, Lucia Restano, Kati Pääkkönen, Ruggero Caputo, Juha Kere

Research output: Contribution to journalArticlepeer-review

Abstract

Background: Hypohidrotic ectodermal dysplasia (HED) is a severe developmental disorder in which nonallelic genetic heterogeneity has been demonstrated. Even though X-linked and autosomal recessive forms are phenotypically similar, identification of the way of transmission is mandatory to give reliable genetic counseling to the family and to address molecular studies. Complete examination of relatives of patients with HED and identification of carriers of partial forms of the disorder in their families is the key to clarifying intrafamilial genetic transmission. Observations: Seven patients diagnosed as having HED and their first-degree relatives were carefully examined and tested with starch-iodine. Useful signs for identifying possible carriers of and postzygotic mosaics for X-linked HED and for finding distinctive features between the X-linked and the autosomal recessive forms of the disorder were recorded. Of these, the most striking finding was the clinical evidence of the distribution of normal and abnormal skin along Blaschko lines in heterozygous and postzygotic mutation carriers of X-linked HED. Six heterozygous female carriers of X-linked HED, 2 males with postzygotic mutations for X-linked HED, and 1 female with autosomal recessive HED were clinically identified. At the end, 6 families had a diagnosis of X-linked HED, while 1 had a diagnosis of autosomal recessive HED. Clinical data, family history, and starch-iodine test results were never in conflict in the 7 families. Conclusions: Careful clinical examination is the best way to detect heterozygous carriers and postzygotic mutation of X- linked HED. Heterozygous parents of patients with autosomal recessive HED show no features of the disorder. The starch-iodine test is not superior to a clinical examination in heterozygous carrier detection but may play a confirmative role and be of help in differentiating X-linked and autosomal recessive HED in isolated patients.

Original languageEnglish
Pages (from-to)217-224
Number of pages8
JournalArchives of Dermatology
Volume136
Issue number2
Publication statusPublished - Feb 2000

ASJC Scopus subject areas

  • Dermatology

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