Rosenthal-Kloepfer Syndrome
Patient Information
Characteristics
Background and History
This syndrome, also sometimes called familial pachydermoperiostosis, is one of abnormal growth, primarily of bone and skin with clouding of the cornea. No gene mutation has been identified.
Clinical Correlations
The first clinical sign of this disorder is often an opacification of the cornea (the windshield of the eye) which gradually progresses in a patchy pattern to involve almost all of this structure. It may be seen in one eye or both. It is often present in young children before other signs appear. Vision may be poor as a result. The skin of the scalp is redundant resulting in furrowing. The bony portion of the eyebrows is enlarged. The hands and feet are disproportionately large and most patients are tall. X-rays reveal thickening of bones, especially of the skull, and widening of the bones in the fingers. The skin of the hands has been described as unusually soft.
Genetics
Inheritance
Reported pedigrees are consistent with autosomal dominant inheritance with direct parent to child transmission. No gene mutation has been associated with this disorder.
Pedigree
Autosomal dominant
Autosomal dominant disorders require only one mutation for the disease to be expressed. Since an affected parent has two chromosomes, only one of which has the mutant gene, parents can expect that half (50%) of their children will receive that one and inherit the disease. It is common for individuals that inherit the mutation, however, to not have evidence of the disease (nonpenetrance).
Autosomal dominant inheritance leads to a vertical pattern of transmission
Diagnosis and Prognosis
The diagnosis can be made by an ophthalmologist based on the corneal opacification but pediatricians, dermatologists, endocrinologists and orthopedists are important for verification of the diagnosis. This is a rare disorder. The systemic features are primarily of cosmetic significance but the loss of corneal clarity may require surgery to restore vision. Longevity is normal.
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