Rothmund-thomson Syndrome

Abstract

A case of Rothmund-Thomson syndrome in an 8-year-old Indian male is reported. The patient had bilaterally symmertrical superficial pigmentary deposition of thin nebulae in the lower one-third of the cornea and oonjunctiva. Urinary togmphy rcvmw a dibasic aininoacid with excretion of arginine, lysine;.hmncicystine and glycine. Other features of interest in this patient were onset at the age of 8 days and start of the disease on the hands and feet rather than face. The patient also developed repeated ulcerations on the hands and feet subsequent to minor trauma.