Abstract
Hypohidrotic ectodermal dysplasia (HED) is characterized by hypohidrosis, hypotrichosis and hypodontia. We present an 11-year-old girl who developed some malformative stigmas at birth such as facial dysmorphysm, abnormally low-placed auricles, hypertelorism, and exophthalmia. At present we can identify dry scaly skin; fine sparse and brittle hair, eyebrows, and eyelashes, hypodontia, nail dystrophy, hypohidrosis, and athelia, with deficient hearing and vision. Histopathological examination reveals absence of sweat glands. In this case we discuss the heterogeneity of the ectodermal dysplasias and the clinical criteria for their classification. We present a rare association of hypohidrotic ectodermal dysplasia and athelia.
Highlights
Hypohidrotic ectodermal dysplasia, X- linked (Christ-SiemensTouraine syndrome) is the most common ectodermal dysplasia
The present case demonstrates the major symptoms of hypohidrotic ectodermal dysplasia
Ectodermal dysplasias are heterogeneous group of inherited disorders that are defined by primary defects in the development of two or more tissues derived from embryonic ectoderm
Summary
Hypohidrotic ectodermal dysplasia, X- linked (Christ-SiemensTouraine syndrome) is the most common ectodermal dysplasia It is characterized by partial or complete absence of sweat glands, hypotrichosis and hypodontia. The present case demonstrates the major symptoms of hypohidrotic ectodermal dysplasia. A rare association of hypohidrotic ectodermal dysplasia and athelia is reported. To our knowledge this is the seventh case of such an association reported in the literature [1,2,3,4,5,6]. The clinical examination showed xerosis cutis, keratosis pilaris and the rare anomaly athelia – the congenital absence of both nippels (Figure 1). The diagnosis of hypohidrotic ectodermal dysplasia was made and we treated the patient only symptomatically with emollients for the dry skin
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