PHOTOSENSITIVITY ASSOCIATED WITH THE SMITH-LEMLI-OPITZ-SYNDROME

A case of severe photosensitivity in a girl with the Smith-Lemli-Opitz syndrome is reported. Children with this recessively inherited metabo lic disorder of cholesterol metabolism present with a variety of conge nital abnormalities of the nervous system and internal organs in assoc iation with varying degrees of mental retardation, Photosensitivity is a feature which has previously only briefly been mentioned in the lit erature in association with this syndrome, However, more recently, it has become apparent that photosensitivity is not uncommon among childr en with the Smith-Lemli-Opitz syndrome, although the nature of the pho tosensitivity in these patients has remained undefined. Our patient ha s suffered from sunlight intolerance since early infancy, with redness and pruritus of sun-exposed skin developing within minutes of sun exp osure, Monochromator ultraviolet (UV) radiation and visible light test ing revealed an immediate and persistent reaction to low-dose UVA at 3 50 nm, and an abnormal erythemal response to visible light at 400 nm.