Farber disease overlapping with stiff skin syndrome: expanding the spectrum

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

Albinism with blindness, retardation of mental and physical growth, osseous anomalies, atrophy of the brain and deaf mutism [abroad]

A new variant of ocule cutaneous albinism is described in five children from one family. The disease shows in addition to the common features of albinism, certain unique findings such as deaf mutism, brain atrophy severe mental retardation, inability to move and oesous anomalies like talipus equinovarus and pes cavus. All affected children were males and the disease seems to be transmitted by an linked gene. Two of the affected children died at an early ago so the disease is probably associated with short life expectancy

Well's syndrome: on seeing, annular erythemas think of Well's syndrome

Eight patients with Wells' Syndrome are presented, six of them showed annular erythema as the only skin manifestation of the syndrome and one showed a combination of annular erythemas and cellulites like lesions. Review of similar incidences is mentioned and differentiation from diseases similarly presenting with annular erthemas is discussed. The author concedes that Wells' Syndrome should be included in the list of differential diagnosis of annular erythemas