Eight cases of pseudoxanthoma elasticum seen in a Medical Unit in Singapore are described. Of these six belonged to one family.
The clinical presentations of these cases, especially the first case who was a diagnostic problem for 5 years, are described. Transmission in this family is autosomal-recessive.
Eye changes were absent. Skin lesions were minimal and the axillary folds were more involved than the skin of the neck.
Of the eight cases, three were asymptomatic except for cutaneous lesions, three had suffered a haemetemesis and four a haemoptysis, while three had mental changes, and two had cerebrovascular involvement. Case 1 had in addition, bleeding from the nose, urinary tract and uterus. She also had a fatty liver, peripheral neuropathy and hysterical fits.
Only one case presented as a cosmetic problem.
The pathogenesis of PXE is discussed; the primary defect is believed to be in the elastic and not the collagenous tissue.
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