Skin ultrastructural findings in type 2 Gaucher disease: Diagnostic implications

Molecular Genetics and Metabolism

Volumn 104, Issue 4, 2011, Pages 631-636

  Chan, Aegean ^a   Holleran, Walter M ^a   Ferguson, Tajh ^b   Crumrine, Debra ^a   Goker Alpan, Ozlem ^b   Schiffmann, Raphael ^c   Tayebi, Nahid ^b   Ginns, Edward I ^d   Elias, Peter M ^a   Sidransky, Ellen ^b  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^c BAYLOR UNIVERSITY MEDICAL CENTER   (United States)

^d UNIVERSITY OF MASSACHUSETTS MEDICAL SCHOOL   (United States)

Author keywords

Acute neuronopathic; Epidermis; Gaucher disease; Glucocerebrosidase; Glucosylceramide; Stratum corneum

Indexed keywords

ENZYME; RUTHENIUM DERIVATIVE; RUTHENIUM TETROXIDE; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; CELL STRUCTURE; CHILD; CLINICAL ARTICLE; CLINICAL ASSESSMENT; COHORT ANALYSIS; CONTROLLED STUDY; DIAGNOSTIC TEST; ELECTRON MICROSCOPY; ENZYME REPLACEMENT; EPIDERMIS; FEMALE; GAUCHER DISEASE; GENOTYPE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; INFANT; LAMELLAR BODY; MALE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROGNOSIS; SCHOOL CHILD; SKIN BIOPSY; SKIN STRUCTURE; SKIN ULTRASTRUCTURE; SYMPTOM; TISSUE FIXATION;

ADOLESCENT; BIOPSY; CHILD; CHILD, PRESCHOOL; DIAGNOSIS, DIFFERENTIAL; EPIDERMIS; FEMALE; GAUCHER DISEASE; GENETIC ASSOCIATION STUDIES; HUMANS; INFANT; MALE; MICROSCOPY, ELECTRON; MIDDLE AGED; MUTATION, MISSENSE; PREGNANCY; PRENATAL DIAGNOSIS; PROGNOSIS; YOUNG ADULT;

EID: 82255179398     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2011.09.008     Document Type: Article

References (30)

1. Prows C.A., Sanchez N., Daugherty C., Grabowski G.A. Gaucher disease: enzyme therapy in the acute neuronopathic variant. Am. J. Med. Genet. 1997, 71:16-21.
2. Vellodi A., Tylki-Szymanska A., Davies E.H., Kolodny E., Bembi B., Collin-Histed T., et al. Management of neuronopathic Gaucher disease: revised recommendations. J. Inherit. Metab. Dis. 2009, 32:660-664.
3. Elias P.M., Williams M.L., Holleran W.M., Jiang Y.J., Schmuth M. Pathogenesis of permeability barrier abnormalities in the ichthyoses: inherited disorders of lipid metabolism. J. Lipid Res. 2008, 49:697-714.
4. Takagi Y., Kriehuber E., Imokawa G., Elias P.M., Holleran W.M. beta-Glucocerebrosidase activity in mammalian stratum corneum. J. Lipid Res. 1999, 40:861-869.
5. Sidransky E., Sherer D.M., Ginns E.L. Gaucher disease in the neonate - a distinct Gaucher phenotype is analogous to a mouse model created by targeted disruption of the glucocerebrosidase gene. Pediatr. Res. 1992, 32:494-498.
6. Tybulewicz V.L., Tremblay M.L., LaMarca M.E., Willemsen R., Stubblefield B.K., Winfield S., et al. Animal model of Gaucher's disease from targeted disruption of the mouse glucocerebrosidase gene. Nature 1992, 357:407-410.
7. Holleran W.M., Ginns E.I., Menon G.K., Grundmann J.U., Fartasch M., McKinney C.E., et al. Consequences of beta-glucocerebrosidase deficiency in epidermis. Ultrastructure and permeability barrier alterations in Gaucher disease. J. Clin. Invest. 1994, 93:1756-1764.
8. Holleran W.M., Ziegler S.G., Goker-Alpan O., Eblan M.J., Elias P.M., Schiffmann R., et al. Skin abnormalities as an early predictor of neurologic outcome in Gaucher disease. Clin. Genet. 2006, 69:355-357.
9. Sidransky E., Fartasch M., Lee R.E., Metlay L.A., Abella S., Zimran A., et al. Epidermal abnormalities may distinguish type 2 from type 1 and type 3 of Gaucher disease. Pediatr. Res. 1996, 39:134-141.
10. Marsh N.L., Elias P.M., Holleran W.M. Glucosylceramides stimulate murine epidermal hyperproliferation. J. Clin. Invest. 1995, 95:2903-2909.
11. Kanfer J.N., Stephens M.C., Singh H., Legler G. The Gaucher mouse. Prog. Clin. Biol. Res. 1982, 95:627-644.
12. Fujimoto A., Tayebi N., Sidransky E. Congenital ichthyosis preceding neurologic symptoms in 2 Sibs with type-2 Gaucher-disease. Am. J. Med. Genet. 1995, 59:356-358.
13. Plakkal N., Soraisham A.S., Jirapradittha J., Pinto-Rojas A. Perinatal lethal Gaucher disease. Indian J. Pediatr. 2011, 78:106-108.
14. Elias P.M., Williams M.L., Crumrine D., Schmuth M. Inherited clinical disorders of lipid metabolism. Curr. Probl. Dermatol. 2010, 39:30-88.
15. Schmuth M., Man M.Q., Weber F., Gao W.N., Feingold K.R., Fritsch P., et al. Permeability barrier disorder in Niemann-Pick disease: sphingomyelin-ceramide processing required for normal barrier homeostasis. J. Invest. Dermatol. 2000, 115:459-466.
16. Uchida Y., Hara M., Nishio H., Sidransky E., Inoue S., Otsuka F., et al. Epidermal sphingomyelins are precursors for selected stratum corneum ceramides. J. Lipid Res. 2000, 41:2071-2082.
17. Stone D.L., Tayebi N., Orvisky E., Stubblefield B., Madike V., Sidransky E. Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease. Hum. Mutat. 2000, 15:181-188.
18. Elias P.M., Fartasch M., Crumrine D., Behne M., Uchida Y., Holleran W.M. Origin of the corneocyte lipid envelope (CLE): observations in harlequin ichthyosis and cultured human keratinocytes. J. Invest. Dermatol. 2000, 115:765-769.
19. Hou S.Y., Mitra A.K., White S.H., Menon G.K., Ghadially R., Elias P.M. Membrane structures in normal and essential fatty acid-deficient stratum corneum: characterization by ruthenium tetroxide staining and x-ray diffraction. J. Invest. Dermatol. 1991, 96:215-223.
20. Mignot C., Doummar D., Maire I., De Villemeur T.B. Type 2 Gaucher disease: 15 new cases and review of the literature. Brain Dev. Jpn. 2006, 28:39-48. Grp FTGDS.
21. Tayebi N., Stone D.L., Sidransky E. Type 2 Gaucher disease: an expanding phenotype. Mol. Genet. Metab. 1999, 68:209-219.
22. Michelakakis H., Moraitou M., Dimitriou E., Santamaria R., Sanchez G., Gort L., et al. Homozygosity for the double D409H+H255Q allele in type II Gaucher disease. J. Inherit. Metab. Dis. 2006, 29:591.
23. Tayebi N., Stubblefield B.K., Park J.K., Orvisky E., Walker J.M., LaMarca M.E., et al. Reciprocal and nonreciprocal recombination at the glucocerebrosidase gene region: implications for complexity in Gaucher disease. Am. J. Hum. Genet. 2003, 72:519-534.
24. Tsuji S., Choudary P.V., Martin B.M., Stubblefield B.K., Mayor J.A., Barranger J.A., et al. A mutation in the human glucocerebrosidase gene in neuronopathic Gauchers-disease. N. Engl. J. Med. 1987, 316:570-575.
25. Beutler E., Grabowski G. Gaucher disease. The metabolic & molecular bases of inherited disease 2001, 3635-3668. McGraw-Hill, New York. 8th ed. C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (Eds.).
26. Ben Turkia H., Tebib N., Azzouz H., Abdelmoula M.S., Ben Chehida A., Caillaud C., et al. Phenotypic continuum of type 2 Gaucher's disease: an intermediate phenotype between perinatal-lethal and classic type 2 Gaucher's disease. J. Perinatol. 2009, 29:170-172.
27. Goker-Alpan O., Schiffmann R., Park J.K., Stubblefield B.K., Tayebi N., Sidransky E. Phenotypic continuum in neuronopathic Gaucher disease: an intermediate phenotype between type 2 and type 3. J. Pediatr. 2003, 143:273-276.
28. Gupta N., Oppenheim I.M., Kauvar E.F., Tayebi N., Sidransky E. Type 2 Gaucher disease: phenotypic variation and genotypic heterogeneity. Blood Cells Mol. Dis. 2011, 46:75-84.
29. Hruska K.S., LaMarca M.E., Scott C.R., Sidransky E. Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA). Hum. Mutat. 2008, 29:567-583.
30. Haverkaemper S., Marquardt T., Hausser I., Timme K., Kuehn T., Hertzberg C., et al. Congenital ichthyosis in severe type II Gaucher disease with a homozygous null mutation. Neonatology 2011, 100:194-197.