Pseudoxanthoma Elasticum: An Underdiagnosed Genetically Heterogeneous Disorder with Protean Manifestations

Nine probands with pseudoxanthoma elasticum (PXE) and 65 of their relatives underwent clinical and histological investigation. Seven previously unrecognized cases were found through family studies. In addition to previously reported manifestations, massive uterine bleeding and hypothyroidism were noted. Three patients with gastrointestinal tract bleeding had predisposing lesions; possibly arterial abnormalities predispose to hemorrhage from gastrointestinal lesions. Dominant inheritance could not be documented, but autosomal recessive transmission could have occurred in four families. Findings in three families suggest that subjects heterozygous for a PXE gene may have increased susceptibility to gastrointestinal tract, degenerative vascular, and ocular disorders. The mode of transmission in the fifth family does not fit either a dominant or a recessive pattern. Firm evidence for genetic heterogeneity in PXE was not found but was adduced from the pattern of inheritance in this family.