Orphanic diseases: Schimmelpenning — Feuerstein — Mims syndrome

Abstract

Schimmelpenning Feuerstein Mims syndrome is a rare congenital hereditary syndrome characterized by the presence of one or more sebaceous nevi, structural and functional disorders of the visual, cardiovascular, bone and central nervous systems. The main marker of Schimmelpenning syndrome is the presence of sebaceous nevi on the skin of the face and neck a hamart of epidermal-follicular-sebaceous-apocrine origin. The aim of the article is to present our own clinical observation of Schimmelpenning Feuerstein Mims syndrome from the orphan diseases group. The syndrome is associated with a wide range of possible congenital pathologies, so such patients need timely interdisciplinary medical monitoring.