Phenotypical and dermatological findings of Down syndrome in Southern Spain.

Abstract

We performed two epidemiological studies to know the prevalence of Down syndrome (DS) in subjects with alopecia areata (AA) in our Trichology Unit, and the prevalence of phenotypical features and dermatological diseases, especially of AA, in DS patients in our Health Care Area. The first retrospective study was realized in our Trichology Unit, where we found a prevalence of 3.4% of DS in 441 patients with AA. The second prospective study was carried out in two Special Education Schools where 57 patients with DS were investigated about their phenotypical and dermatological manifestations, and their relatives were asked for their clinical history. In the latter study we found a high incidence of upward slanting palpebral fissures, xerosis, fissured tongue, clinobrachydactyly of the fifth finger and transverse palmar crease. Onychopathies, such as trachyonychia and onychausis, were frequently observed. Angular cheilitis followed by seborrhoeic dermatitis, folliculitis, acne vulgaris, and keratosis pilaris were the most frequent mucocutaneous diseases. The incidence of AA was of 7%. In both studies all cases of AA were in multiple patches and thus less aggressive than previously described in DS. The prevalence of the comorbidities was concordant with previous studies.