Hypohydrotic ectodermal dysplasia. Presentation of a case

Abstract

The Christ-Siemens-Touraine syndrome or hypohydrotic ectodermal dysplasia, is the most frequent form of the so called ectodermal dysplasias; a congenital character syndrome in which one or several components of the ectoderm are affected, without presenting a progressive course. The hypohydrotic ectodermal dysplasia is an hereditary familiar syndrome, transmitted as a recessive characteristic linked to X, affecting 90 % of the males. The most common form of the ectodermal dysplasia is the hypohydrotic one, characterized by the triad hypohydrosis, hypotrichosis and hypodoncia. Another finding was a fascia characterized by frontal convection, depression of the nasal bridge and proquelia for absence of teeth. We found otorhinolaryngologic manifestations, allergic disorders and from light to moderated nail dystrophy. The patient arrived to our consultation with previous familiar antecedents of father affected by Hypohydrotic Ectodermal Dysplasia, third of four siblings (two brothers and a sister), only a nephew, son of his sister, with Hypohydrotic Ectodermal Dysplasia. He told about antecedents of frequent respiratory infections, xerosis and blisters in oral mucosa. When we carried out the physical examination we found: sun dermatosis, stomatitis, characteristic facial features of prominent forehead and chin, everted and thick lips, and also big earlobes. The physical dermatologic examination showed smooth skin, dry and wrinkly around the eyes, giving an aspect of premature aging. The hypotrichosis is partial in the scalp, eyebrows, beard, armpits and pubis. The physical oral examination showed gums inflammation, stomatitis and abnormal dental development.