Cutaneous aspects of mongolism—a clinical study

Abstract

The study of Trisomy 21 has attracted considerable attention since Lejeune, Gauthier & Turpin (i959) first described the genetic defect responsible for the condition, i.e. three no. 21 chromosomes, instead of the usual two, giving rise to a total of forty-seven chromosomes in place of the normal forty-six.Several authors have reported on the skin changes in Trisomy 21. These include ichthyosis, lichen simplex, keratosis palmaris, cheilitis and blepharitis. These reports have been quoted in the major textbooks of dermatology including Rook et al. (1972).The authors had the opportunity to examine forty-two such patients, twenty-four males and eighteen females, in all of whom the diagnosis of Trisomy 21 had been confirmed genetically.Clinically, ichthyosis was apparent in a mild degree in only one male. All twelve males over the age of 15 years had a condition which was clinically seborrhoeic eczema/dermatitis of the pre-sternal and interscapular regions, lower abdomen, lumbar and buttock areas and upper thighs, and on histology showed a non-specific infiammatory reaction and none of the features of ichthyosis. Apart from mild acne in two patients, the females showed no evidence of this eruption.