Acromegaloid Facial Appearance Syndrome with Generalized Hypertrichosis Terminalis / 대한피부과학회지

ABSTRACT

Acromegaloid facial appearance (AFA) syndrome is a rare autosomal dominant disease, consisting of an acromegaloid face, a bulbous nose, and narrowing of the palpaebral fissure. In 1996, Irvin first reported a case of a combination of acromegaloid facial appearance syndrome and congenital hypertrichosis, and reported this case as a new disease of acromegaloid facial appearance with generalized hypertrichosis terminalis, which is differentiated from both AFA syndrome and congenital hypertrichosis/gingival hyperplasia. We report herein the first Korean case of acromegaloid facial appearance with generalized hypertrichosis terminalis.