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July 2010

Autosomal Dominant Transmission of Pseudoxanthoma Elasticum

Author Affiliations

Author Affiliation: Department of Internal Medicine, Division of Dermatology, Washington University School of Medicine, St Louis, Missouri.

Arch Dermatol. 2010;146(7):800-801. doi:10.1001/archdermatol.2010.139

I read with interest the Off-Center Fold case entitled “Hemochromatosis and Bilateral Yellow Papules of the Neck” by Matarasso and Dahlem1 in the January issue of the Archives. The authors present an unusual case with excellent clinical photographs. They nicely review the subject of pseudoxanthoma elasticum (PXE) and highlight the patient's unique association with hemochromatosis. However, I believe that the authors' statement that “autosomal recessive transmission is more common than autosomal dominant”1(p86) should be corrected because PXE is now considered a strictly autosomal recessive disorder.24 For the purpose of genetic counseling, clarifying that the inheritance of PXE is autosomal recessive is critical.3

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