Epidermal abnormalities may distinguish type 2 from type 1 and type 3 of Gaucher disease

Pediatric Research

Volumn 39, Issue 1, 1996, Pages 134-141

  Sidransky, Ellen ^a   Fartasch, Manigé ^b,g   Lee, Robert E ^c   Metlay, Leon A ^d   Abella, Steve ^e   Zimran, Ari ^f   Gao, Wenni ^g   Elias, Peter M ^g   Ginns, Edward I ^a   Holleran, Walter M ^g  

^a NATIONAL INSTITUTE OF MENTAL HEALTH   (United States)

^b UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^c UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

^d UNIVERSITY OF ROCHESTER SCHOOL OF MEDICINE AND DENTISTRY   (United States)

^e WAYNE STATE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^f SHAARE ZEDEK MEDICAL CENTER   (Israel)

^g UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CERAMIDE; GLUCOSYLCERAMIDASE; GLUCOSYLCERAMIDE;

ADOLESCENT; ADULT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; AUTOPSY; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE CLASSIFICATION; FEMALE; GAUCHER DISEASE; GENOTYPE; HISTOLOGY; HUMAN; HUMAN TISSUE; ICHTHYOSIS; INFANT; MALE; MEDICAL RECORD; MOUSE; PRIORITY JOURNAL; PUNCH BIOPSY; SKIN BIOPSY; SKIN DISEASE; ULTRASTRUCTURE;

EID: 9044236528     PISSN: 00313998     EISSN: None     Source Type: Journal    
DOI: 10.1203/00006450-199601000-00020     Document Type: Article

References (28)

1. Barranger JA, Ginns EI 1989 Glucosylceramide lipidoses: Gaucher disease. In: Scriver CR, Beaudat AL, Sly WS, Valle D (eds) Metabolic Basis of Inherited Disease. McGraw-Hill, New York, pp 1677-1678
2. Sidransky E, Ginns EI 1993 Clinical heterogeneity among patients with Gaucher's disease. JAMA 269:1154-1157
3. Goldblatt J, Beighton P 1984 Cutaneous manifestations of Gaucher disease. Br J Dermatol 111:331-334
4. Sidransky E, Sherer DM, Ginns EI 1992 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 32:494-498
5. Liu K, Commens C, Chong R, Jaworski R 1988 Collodion babies with Gauchers disease. Arch Dis Child 63:854-856
6. Lipson AH, Rogers M, Berry A 1991 Collodion babies with Gauchers disease: a further case. Arch Dis Child 66:667
7. Sherer DM, Metlay L, Sinkin RA, Mongeon C, Lee RE, Woods JR 1993 Congenital ichthyosis with restrictive dermopathy and Gaucher's disease: a new syndrome with associated prenatal diagnostic and pathology findings. Obstet Gynecol 81:842-844
8. Tybulewicz V, Tremblay ML, LaMarca ME, Willemsen R, Stubblefield BK, Winfield S, Zablocka B, Sidransky E, Martin BM, Huang SP, Mintzer KA, Westphal H, Mulligan RC, Ginns EI 1992 Animal model of Gaucher's disease from targeted disruption of the mouse glucocerebrosidase gene. Nature 357:407-410
9. Holleran WM, Ginns EI, Menon G, Grundmann JU, Fartasch M, Elias PM, Sidransky E 1994 Epidermal consequences of β-glucocerebrosidase deficiency: Permeability barrier alterations and basis for skin lesions in type 2 Gaucher disease. J Clin Invest 93:1756-1764
10. Holleran WM, Takagi Y, Menon GK, Legler G, Feingold KR, Elias PM 1993 Processing of epidermal glucosylceramides is required for optimal mammalian cutaneous permeability barrier function. J Clin Invest 91:1656-1664
11. Holleran WM, Mao-Qiang M, Gao WN, Menon GK, Elias PM, Feingold KR 1991 Sphingolipids are required for mammalian barrier function: inhibition of sphingolipid synthesis delays barrier recovery after acute perturbation. J Clin Invest 88:1338-1345
12. Holleran WM, Takagi Y, Imokawa G, Jackson S, Feingold KR, Elias PM 1991 β-Glucocerebrosidase activity in murine epidermis: characterization and localization in relationship to differentiation. J Lipid Res 33:1201-1209
13. Elias PM, Menon GK 1991 Structural and lipid biochemical correlates of the epidermal permeability barrier. Adv Lipid Res 24:1-26
14. O'Brien JS, Bernett J, Veath ML, Paa D 1975 Lysosomal storage disorders: Diagnosis by ultrastructural examination of skin biopsy specimens. Arch Neurol 32:592-599
15. Kaesgen U, Goebel H-H 1989 Intraepidermal morphologic manifestations in lysosomal diseases. Brain Dev 11:338-341
16. Hou SYE, Mitra AK, White SH, Menon GK, Ghadially R, Elias PM 1991 Membrane structures in normal and essential fatty acid deficient stratum corneum: characterization by ruthenium tetroxide staining and x-ray diffraction. J Invest Dermatol 96:215-223
17. Elias PM, Brown BE, Fritsch P, Goerke J, Grayson S, White J 1979 Localization and composition of lipids in neonatal mouse stratum granulosum and stratum corneum. J Invest Dermatol 73:339-348
18. Gaucher P 1882 De l'epithelioma primitif de la rate. Thése, Faculté de Médecine de Paris, Paris
19. Fujimoto A, Tayebi N, Sidransky E 1995 Congenital ichthyosis preceding neurologic symptoms in two siblings with type 2 Gaucher disease. Am J Med Genet 59:356-358
20. Williams ML 1992 Ichthyosis: mechanisms of disease. Pediatr Dermatol 9:365-368
21. Marsh NL, Elias PM, Holleran WM, 1995 Glucosylceramides stimulate murine epidermal hyperproliferation. J Clin Invest 95:2903-2909
22. Proksch E, Feingold UR, Man MQ, Elias PM 1991 Barrier function regulates epidermal DNA synthesis. J Clin Invest 87:1668-1673
23. Sidransky E, Tsuji S, Martin BM, Stubblefield B, Ginns EI 1992 DNA mutation analysis of Gaucher patients. Am J Med Genet 42:331-336
24. Sidransky E, Ginns EI 1994 Phenotypic and genotypic heterogeneity in Gaucher disease: implications for genetic counseling. J Genet Couns 3:13-22
25. Barton NW, Brady RO, Dambrosia JM, DiBisceglie AM, Doppelt SH, Hill SC, Mankin HJ, Murray GJ, Parker RI, Argoff CE, Grewal RP, Yu KT 1991 Replacement therapy for inherited enzyme deficiency-macrophage-targeted glucocerebrosidase for Gaucher's disease. N Engl J Med 324:1464-1470
26. Figueroa ML, Rosenbloom BE, Kay AC, Garver P, Thurston DW, Koziol JA, Gelbart T, Beutler E 1992 A less costly regimen of alglucerase to treat Gaucher's disease. N Engl J Med 327:1632-1636
27. Grabowski GA, Barton NW, Pastores G, Dambrosia JM, Bannerjee TK, McKee MA, Parker C, Schiffmann R, Hill SC, Brady RO 1995 Enzyme therapy in type 1 Gaucher disease: comparative efficacy of mannose-terminated glucocerebrosidase from natural and recombinant sources. Ann Intern Med 122:33-39
28. Erikson A, Johansson E, Manssan JE, Svennerholm L 1993 Enzyme replacement therapy of infantile Gaucher disease. Neuropediatrics 24:237-238