Farber S (1952) A lipid metabolic disorder—"disseminated lipogranulomatosis"—a syndrome with similarity to and important differences from Niemann-Pick and Hand-Schüller-Christian disease. (Abstract). Am J Dis Child 84:499-500 Google Scholar filexlib. In 1947, Farber described a syndrome characterized by dysphonia, laryngeal stridor, nodular tumefactions, hyperesthesia and rigidity of the peripheral joints, projectile vomiting, and cutaneous pigmented lesions of the bony prominences (1). Subsequently he reported 2 other cases, describing the entity as "disseminated lipogranulomatosis," considering it to have some clinical and pathologic PMID: 8577050 Abstract Farber's lipogranulomatosis is a disorder of lipid metabolism due to deficiency of lysosomal acid ceramidase. Since Farber described the first case in 1947, at least 50 cases have been reported.
Farber disease is an inherited lipid storage disease in which an excess amount of fat builds up in the joints, tissues, and central nervous system. Symptoms of Farber disease include a hoarse voice or weak cry, small lumps of fat under the skin and in other tissues (lipogranulomas), and swollen and painful joints.
Hay una enfermedad que lleva su nombre (enfermedad de Farber) y que es la lipogranulomatosis, rara afección hereditaria de transmisión autosómica recesiva que se caracteriza por el déficit de ceraminidasa y acúmulo de ceramida en los lisosomas de las células (1952) [17]. En 1980 el ABC recogía la siguiente noticia:
In 1947 sidney farber (1) observed an apparently new disease entity in an infant fourteen months of age, which he termed"disseminated lipogranulomatosis." This, he suggested, might represent a bridge between two apparently etiologi-cally distinct groups of lipid metabolic disorders which he defined as: (a) true metabolic disorders, including Gaucher's disease, Niemann-Pick's disease, and
The first description of lipogranulomatosis was published by Farber in 1952 (8). On the basis of the findings in three children, two of whom were siblings he described the clinical and pathological features of this rare systemic disorder. At present eight additional
Clinical Molecular Genetics test for Farber lipogranulomatosis and using Sequence analysis of the entire coding region, Bi-directional Sanger Sequence Analysis offered by Laboratorio de Genetica Clinica SL. There are links to the lab to order the test and links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, PharmGKB to support the clinician's informed
La enfermedad de Farber, también conocida como lipogranulomatosis de Farber, describe un grupo de trastornos metabólicos hereditarios llamados enfermedades de almacenamiento de lípidos, en los cuales el exceso de cantidades de lípidos (aceites, ácidos grasos y compuestos relacionados) se acumula a niveles nocivos en las articulaciones, los …
Farber disease (also known as Farber's lipogranulomatosis, acid ceramidase deficiency, "Lipogranulomatosis", and ASAH1-related disorders) is an extremely rare, progressive, autosomal recessive lysosomal storage disease caused by a deficiency of the acid ceramidase enzyme. Acid ceramidase is responsible for breaking down ceramide into sphingosine and fatty acid. When the enzyme is deficient Farber disease, also called Farber lipogranulomatosis and fibrocytic dysmucopolysaccharidosis, is a rare autosomal recessive lysosomal storage disease. Patients have ceramidase deficiency with sequelae involving multiple organ systems. The degree of involvement