Definition: An autosomal recessive syndrome occurring principally in females, characterized by the presence of reticulated, atrophic, hyperpigmented, telangiectatic cutaneous plaques, often accompanied by juvenile cataracts, saddle nose, congenital bone defects, disturbances in the growth of HAIR; NAILS; and TEETH; and HYPOGONADISM.
Other names Poikiloderma Congenitale; Syndrome, Rothmund-Thomson; Rothmund-Thomson Poikilodermas; Rothmund-Thomson Poikiloderma; Rothmund Thomson Syndrome; Poikiloderma of Rothmund Thomson; Poikiloderma Congenitales; Congenitales, Poikiloderma; Congenitale, Poikiloderma; Poikiloderma of Rothmund-Thomson; Poikiloderma Atrophicans and Cataract
