The clinical features of this rare inherited syndrome (a single 4 generation Korean family has been reported) consist of abnormal and early calcification of large blood vessels, childhood glaucoma, joint calcification, and skin disease.
There is considerable variability in the clinical signs. Glaucoma has been diagnosed in children as young as 3 years of age. The skin is dry and scaly and has features of psoriasis. Young adults may have calcium deposits in large vessels such as the aorta as well as in the coronary arteries and in the heart valves. Tendons, especially in those attached to the fingers also have deposits of calcium. There is evidence of bone erosion in the bones of some of the digits.
This condition is the result of changes (mutations) in a single gene and is inherited in a vertical pattern (autosomal dominant). Affected parents can expect that half of their offspring will be affected.
The diagnosis (such as glaucoma) can sometimes be made in childhood but other aspects such as arthritis and calcium deposits in the aorta and heart valves become evident somewhat later. Rheumatologists, orthopedists, dermatologists, ophthalmologists and pediatricians may collaborate on care and management. Removal of calcium deposits and replacement of heart valves may sometimes be beneficial. Glaucoma in children is difficult to treat but should be pursued vigorously.