Genodermatoses

Abstract

Inherited conditions affecting the skin and kidneys can often be diagnosed on the basis of characteristic cutaneous findings, which may be the presenting clinical manifestation of a given disease. Early recognition of these distinctive skin lesions can have a positive impact on patient monitoring, management, and prognosis. Herein, Fabry disease, tuberous sclerosis, Birt-Hogg-Dubé disease, and nail patella syndrome will be discussed with respect to epidemiology, genetics, cutaneous findings, renal manifestations, other systemic organ involvement, diagnosis, prognosis, and management