Farber disease overlapping with stiff skin syndrome : expanding the spectrum

• Published in: The Egyptian journal of medical human genetics 2009-05, Vol.10 (1), p.97-104
• Main Authors: al-Kamah, Ghadah Y., Kotoury, Ahmad I., Mustafa, Mustafa I., al-Darouti, Muhammad A.
• Format: Article
• Language: English
• Subjects: Diseases; Skin; الأمراض; الأمراض الجلدية; الجلد
• ISSN: 1110-8630; 2090-2441

Background: Farber Disease (MIM 228000)1 is a rare AR disorder fi rst described by Sidney Farber in 19522. 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 fi rst described by Esterly and McKusick as a disorder characterized by thickened and indurated skin of the entire body and limitation of joint mobility with fl exion contractures. Aim of the Study: Diagnosis and clarifi cation of overlapping in the clinical presentation of the studied case. Patients and Methods: Clinical report of an atypically presenting Farber case and analyzing the overlapping manifestations between the two syndromes. Results: Histopathological study was the conclusive diagnostic key in our case. Conclusion: 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.