Phenotypic and dermatological manifestations in Down Syndrome

Abstract

Down syndrome (DS) is associated with various uncommon dermatological disorders and increased frequency of some common dermatoses. This study was conducted over a 2-year period to evaluate the frequency of phenotypic and dermatologic manifestations in patients with Down syndrome in south India. The most common phenotypic manifestations that characterize DS include the epicanthic fold (93.7%), brachicephaly (90.6%), flat nasal bridge (84.2%), upward angle of eyes (83.2%), wide gap between first and second toe (81.1%), clinodactyly (77.9%), small nose (74.7%), short broad neck (72.6%), single palmar crease (61.1%), increased nuchal skin fold (61.1%), and fissured tongue (52.6%). The most common dermatological manifestation seen in patients with DS were lichenification, xerosis, dental anomaly, fine, sparse hair, and delayed dentition. Alopecia areata was seen in 9.4 percent of patients and tended to be severe. Infections were relatively less common in our study. Our study has highlighted many phenotypic features and dermatoses, which may help provide better care for patients and counseling to the families.