A rare syndrome where affected patients are tall with
large extremities corneal leukoma, and skin modifications.
Acromegaloid Changes, Cutis Verticis Gyrata, and Corneal
Autosomal dominant. Very rare.
Features involve eyes (corneal leukoma usually
presents in first decade, progressing to total blindness), skin (excessive skin
undulation on face, typically in coronal direction [cutis verticis gyrata];
skin on the hand is usually soft with abnormal dermal “split ridges”
palm), and skeleton (acromegaloid changes with progressive enlargement, hand, feet,
and chin, large and unusually tall). No evidence of pituitary dysfunction.
Affected individuals have normal daily function and expectancy. Skull
radiograph shows enlarged jaw, normal sella turcica.
Vascular access can be difficult because
of skin changes.
Rosenthal J, Kloepfer H: An acromegaloid, cutis verticis gyrata, corneal
leukoma syndrome: A new medical entity. Arch Ophthalmol