X-linked hypohidrotic ectodermal dysplasia (XLHED), the most common form of ectodermal dysplasia, is characterized by abnormal development of eccrine sweat glands, hair, and teeth. Affected male patients present most or all of the typical features of HED, consisting of a tetrad of anhidrosis or hypohidrosis, dental hypoplasia, hypotrichosis, and characteristic facial features.1 About 30% of heterozygous carriers do not show obvious clinical manifestations. Dental abnormalities (72%) and mild hypotrichosis (62%) are the most common signs encountered in female carriers; mild hypohidrosis is less frequent (30%).2 This phenotypic vari ability hampers clinical determination of female carrier status. The ED1 gene was found to be mutated in most patients with XLHED.3 We report 2 cases of women with some clinical features consistent with carrier status whose risks were subsequently excluded by mutation analysis of the ED1 gene.
Marie-Claire Vincent, Mireille Cossée, Pierre Vabres, Fiona Stewart, Dominique Bonneau, Patrick Calvas. Pitfalls in Clinical Diagnosis of Female Carriers of X-linked Hypohidrotic Ectodermal Dysplasia. Arch Dermatol. 2002;138(9):1256–1258. doi:10.1001/archderm.138.9.1251