Rosenthal-Kloepfer Syndrome

Clinical Characteristics
Ocular Features: 

The major ocular feature associated with this syndrome is a corneal leukoma in one or both eyes.   It consists of a whitish plaque in the epithelium beginning in the inferior nasal quadrant  and later extending into the Bowman layer in patches throughout the entire cornea except for the peripheral one millimeter.  Initially the lesions are flat but later become elevated with some pigmentation at the edges.  The anterior stroma can become vascularized but the epithelial portion does not.  The leukomata are seen as early as the first year of life and are progressive but they are not present in every patient.  The lateral half of the supraorbital arch has a horn-like enlargement.

Systemic Features: 

Affected individuals are unusually tall and have large hands, feet and chin.  The skin of the hands in the single reported family is described as unusually soft.   The dermal ridge pattern is said to have ‘split ridges’ and may be of diagnostic value even in young children who may not yet have the acromegaloid changes.  The excessive scalp skin undulation differs from the usual cutis verticis gyrate condition by having a coronal orientation as opposed to the usual sagittal folds.  The skin changes may not appear until the fourth or fifth decades of life.   Radiographs show thickening of bone with ‘squaring’ of the middle and proximal phalanges.  There is no evidence of pituitary dysfunction and the sella turcica is normal.


Reported pedigrees suggest autosomal dominant inheritance but no locus or gene has been identified.

Treatment Options: 

Various surgical procedures including penetrating keratoplasty have been used but the most effective seems to be an optical iridectomy to enable patients to use the relatively clear corneal areas.

Article Title: 


Harbison JB, Nice CM Jr. Familial pachydermoperiostosis presenting as an acromegaly-like syndrome. Am J Roentgenol Radium Ther Nucl Med. 1971 Jul;112(3):532-6.

PubMedID: 5570364

ROSENTHAL JW, KLOEPFER HW. An acromegaloid, cutis verticis gyrata, corneal leukoma syndrome. A new medical entity. Arch Ophthalmol. 1962 Dec;68:722-6.

PubMedID: 13974983