HPI: This 44 year-old disabled woman has the severe stigmata of Clouston Syndrome (CS-HED) (a variant of hidrotic ectodermal dysplasia seen in French Canadian probands). She has impressive keratoderma of the feet which make ambulating difficult and painful. Her father had CS-HED as do three of her daughters. The presentation in her daughters is variable. Over the years, her keratoderma has become progressively severe. On a recent visit she said, "Please cut my feet off and feed them to the pigs." She has been hospitalized in the past for cellulitis secondary to breakdown of plantar keratoderma. The patient had seen a podiatrist who debrided her feet in theater on occasion, but she moved to another state and her insurance does not cover her there.
O/E: This is a sad looking 44 year-old woman. She has alopecia universalis, is edentulous, her nails are dystrophic and she has has abnormal and hyperkeratotic palms. The most striking feature is massive keratoderma plantaris which tends to break down and become infected.
Clinical Photographs (presented with the patient's consent):