Literature DB >> 1553820

Farber disease: an ultrastructural study. Report of a case and review of the literature.

L Zappatini-Tommasi1, C Dumontel, P Guibaud, C Girod.   

Abstract

A case of Farber disease is reported and the ultrastructural pathology of the disease is reviewed. The present case showed the typical clinical picture of Farber disease. Acid ceramidase deficiency was demonstrated biochemically. Ultrastructural features of one subcutaneous nodule and a skin biopsy are described. Three lysosomal inclusions characterize Farber disease: curvilinear tubular bodies observed mainly in the reticuloendothelial system, "banana bodies" recorded only in the peripheral nervous system and zebra-like bodies which are essentially a neuronal storage. The nature of each is discussed and the skin biopsy is emphasized for its important diagnostic interest.

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Year:  1992        PMID： 1553820     DOI： 10.1007/bf01600282

Source DB:  PubMed          Journal:  Virchows Arch A Pathol Anat Histopathol        ISSN： 0174-7398


  50 in total

1.  [Disseminated lipogranulomatosis (Farber). Case report of the 16th case of a ceramidose (author's transl)].

Authors:  H Becker; L Auböck; M Haidvogl; H Bernheimer
Journal:  Verh Dtsch Ges Pathol       Date:  1976

2.  A lipid metabolic disorder: disseminated lipogranulomatosis; a syndrome with similarity to, and important difference from, Niemann-Pick and Hand-Schüller-Christian disease.

Authors:  S FARBER
Journal:  AMA Am J Dis Child       Date:  1952-10

3.  Farber's disease: a fine structural study.

Authors:  P Abenoza; R K Sibley
Journal:  Ultrastruct Pathol       Date:  1987       Impact factor: 1.094

4.  Increased levels of ceramide in the retina of a patient with Farber's disease.

Authors:  M A Zarbin; W R Green; A B Moser; C Tiffany
Journal:  Arch Ophthalmol       Date:  1988-09

Review 5.  Farber's lipogranulomatosis.

Authors:  V U Vaidya; B A Bharucha; T Y Kagalwala; A L Pandya; N B Kumta
Journal:  Indian Pediatr       Date:  1987-08       Impact factor: 1.411

6.  Role of lysosomal acid ceramidase in the metabolism of ceramide in human skin fibroblasts.

Authors:  W W Chen; A B Moser; H W Moser
Journal:  Arch Biochem Biophys       Date:  1981-05       Impact factor: 4.013

7.  Phenotypic variability in siblings with Farber disease.

Authors:  S E Antonarakis; D Valle; H W Moser; A Moser; S J Qualman; W H Zinkham
Journal:  J Pediatr       Date:  1984-03       Impact factor: 4.406

8.  Farber's lipogranulomatosis in siblings: light and electron microscopic studies.

Authors:  M Chanoki; M Ishii; K Fukai; H Kobayashi; T Hamada; K Murakami; A Tanaka
Journal:  Br J Dermatol       Date:  1989-12       Impact factor: 9.302

9.  The cellular lesions of Farber's disease and their experimental reproduction in tissue culture.

Authors:  J Rutsaert; M Tondeur; E Vamos-Hurwitz; P Dustin
Journal:  Lab Invest       Date:  1977-05       Impact factor: 5.662

10.  Substrate-specificities of acid and alkaline ceramidases in fibroblasts from patients with Farber disease and controls.

Authors:  T Momoi; Y Ben-Yoseph; H L Nadler
Journal:  Biochem J       Date:  1982-08-01       Impact factor: 3.857
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  7 in total

1.  A 12-month-old boy with a localized verrucous tumor.

Authors:  Matthias Möhrenschlager; Johannnes Ring; Verena Henkel
Journal:  Eur J Pediatr       Date:  2009-10-16       Impact factor: 3.183

2.  Acid Ceramidase Deficiency in Mice Results in a Broad Range of Central Nervous System Abnormalities.

Authors:  Jakub Sikora; Shaalee Dworski; E Ellen Jones; Mustafa A Kamani; Matthew C Micsenyi; Tomo Sawada; Pauline Le Faouder; Justine Bertrand-Michel; Aude Dupuy; Christopher K Dunn; Ingrid Cong Yang Xuan; Josefina Casas; Gemma Fabrias; David R Hampson; Thierry Levade; Richard R Drake; Jeffrey A Medin; Steven U Walkley
Journal:  Am J Pathol       Date:  2017-04       Impact factor: 4.307

3.  Identification of ASAH1 as a susceptibility gene for familial keloids.

Authors:  Regie Lyn P Santos-Cortez; Ying Hu; Fanyue Sun; Fairouz Benahmed-Miniuk; Jian Tao; Jitendra K Kanaujiya; Samuel Ademola; Solomon Fadiora; Victoria Odesina; Deborah A Nickerson; Michael J Bamshad; Peter B Olaitan; Odunayo M Oluwatosin; Suzanne M Leal; Ernst J Reichenberger
Journal:  Eur J Hum Genet       Date:  2017-07-26       Impact factor: 4.246

4.  Rare Diseases in Glycosphingolipid Metabolism.

Authors:  Hongwen Zhou; Zhoulu Wu; Yiwen Wang; Qinyi Wu; Moran Hu; Shuai Ma; Min Zhou; Yan Sun; Baowen Yu; Jingya Ye; Wanzi Jiang; Zhenzhen Fu; Yingyun Gong
Journal:  Adv Exp Med Biol       Date:  2022       Impact factor: 2.622

Review 5.  Lysosomal storage diseases.

Authors:  Carlos R Ferreira; William A Gahl
Journal:  Transl Sci Rare Dis       Date:  2017-05-25

6.  C26-Ceramide as highly sensitive biomarker for the diagnosis of Farber Disease.

Authors:  Claudia Cozma; Marius-Ionuț Iurașcu; Sabrina Eichler; Marina Hovakimyan; Oliver Brandau; Susanne Zielke; Tobias Böttcher; Anne-Katrin Giese; Jan Lukas; Arndt Rolfs
Journal:  Sci Rep       Date:  2017-07-21       Impact factor: 4.379

Review 7.  Acid ceramidase deficiency: Farber disease and SMA-PME.

Authors:  Fabian P S Yu; Samuel Amintas; Thierry Levade; Jeffrey A Medin
Journal:  Orphanet J Rare Dis       Date:  2018-07-20       Impact factor: 4.123
  7 in total

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