Hyalinosis cutis ET mucosae

Abstract

A 16-year-old male was brought to the Dermatology OPD with complaints of generalized progressive thickening of the skin since one year of life and development of blisters after trauma. There was a history of difficulty in swallowing, protrusion of tongue, hoarseness of voice, and diffuse loss of hair. Similar findings were also present in the younger sister.