Rosenthal-Kloepfer Syndrome

A rare syndrome where affected patients are tall with large extremities corneal leukoma, and skin modifications.

Acromegaloid Changes, Cutis Verticis Gyrata, and Corneal Leukoma Syndrome.

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.