Rothmund's Syndrome

Abstract

Rothmund''s syndrome is a rare heredofamilial type of ectodermal dysplasia. Its most important feature is the early onset of the characteristic skin changes. These consist of thin, atrophic skin with ulceration and telangiectasia and areas of hyperpigmentation and depigmentation. Cataracts usually develop at an early age, but the incomplete syndrome (forme fruste) without cataracts may occur. Roentgenographic changes of significance are phalangeal tuft resorption, dystrophic soft-tissue calcification, and decreased sub-cutaneous tissues over the body. Other findings in the patient reported were bilateral pes planus, prognathism, and flaring of the iliac wings. This is probably the first report of Rothmund''s syndrome in the radiologic literature. The syndrome is offered as another cause of resorption of terminal phalangeal tufts and dystrophic calcification.