Sjogren Larsson Syndrome in Twins: Case Report

Abstract

Introduction: Sjogren-Larsson syndrome is a rare autosomal neurocutaneous disease, dermatologically manifested by congenital ichthyosis, associated with para/tetraplegia and developmental delay. Case Presentation: We present the case of two triplet patients, a girl, and a boy, 3 months old, admitted to the intensive care unit (ICU) due to respiratory distress, swallowing, and spasticity. The dermatological evaluation was requested due to the presence of generalized cutaneous xerosis, predominantly facial, in the girl and mild xerosis on the soles and face in the boy. The set of clinical signs and symptoms, together with the histopathological examination that revealed findings of ichthyosis, corroborated the diagnosis of this syndrome. Conclusions: The importance of describing this case is mainly due to the rarity of the presentation, especially in the case of triplets in which two of the brothers have the syndrome and one does not, as well as an alert to physicians for the correct diagnosis and multidisciplinary and dermatological follow-up.