Farber disease overlapping with stiff skin syndrome: expanding the spectrum

ABSTRACT

Farber Disease [MIM 228000][1] is a rare AR disorder first described by Sidney Farber in 1952[2]. Farber disease is usually recognized by the presence of three symptoms Painful and progressively deformed joints, nodules under the skin and progressive hoarseness. Other organ systems may also be involved. As with most lysosomal storage diseases, the course of Farber's Disease is progressive and death typically occurs in infancy. Stiff skin syndrome [SSS] [MIM% 184900][1] was first described by Esterly and McKusick as a disorder characterized by thickened and indurated skin of the entire body and limitation of joint mobility with flexion contractures. Diagnosis and clarification of overlapping in the clinical presentation of the studied case. Clinical report of an atypically presenting Farber case and analyzing the overlapping manifestations between the two syndromes. Histopathological study was the conclusive diagnostic key in our case. Recognition of atypical or abortive cases is of practical importance as it may affect counseling or therapeutic decision making. Orodental manifestations were not previously considered but they may be of future diagnostic help