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Angiokeratoma Corporis Diffusum (Fabry's Disease)

Angiokeratoma Corporis Diffusum (Fabry's Disease) Abstract A pedigree which includes five males and one female with clinical evidence of angiokeratoma corporis diffusum universale (ACD) is presented. The pattern of involvement lends support to a sex-linked, recessive mode of transmission. ACD cutaneous lesions were examined by histochemical methods, and the results and conclusions are discussed. Cutaneous vasomotor and sudomotor reactions to intradermally injected chemical agents are recorded. The finding of a peculiar histiocytic cell in the bone marrow aspirate is described. References 1. Opitz, J. M.; Stiles, F. C.; Wise, David; von Gemmingen, G. R.; Kierland, R. R.; Race, R. R.; Senger, R.; Cross, E. G.; and De Groot, W. P.: Genetics of Angiokeratoma Corporis Diffusum (ACD, Fabry's Disease) and Its Linkage With Xg(a) Locus. Unpublished data. 2. Sweeley, C. C., and Klionsky, B.: Fabry's Disease: Classification as Sphingolipidosis and Partial Characterization of Novel Glycolipid , J Biol Chem 238:3148-3150 ( (Sept) ) 1963. 3. Anderson, W.: Case of "Angeio-Keratoma," Brit J Derm 10:113-117 ( (April) ) 1898.Crossref 4. Ruiter, M.: Some Further Observations on Angiokeratoma Corporis Diffusum , Brit J Derm 69:137-144 ( (April) ) 1957.Crossref 5. Fessas, P.; Wintrobe, M. M.; and Cartwright, G. E.: Angiokeratoma Corporis Diffusum Universale (Fabry): First American Report of Rare Disorder , AMA Arch Intern Med 95:469-481, 1955.Crossref 6. Wise, D.; Wallace, H. J.; and Jellinek, E. H.: Angiokeratoma Corporis Diffusum: Clinical Study of Eight Affected Families , Quart J Med 31:177-206 ( (April) ) 1962. 7. Rahman, A. N., et al: Angiokeratoma Corporis Diffusum Universale (Hereditary Dystopic Lipidosis) , Trans Ass Amer Physicians 74:366-377, 1961. 8. Rahman, A. N.: Ocular Manifestations of Hereditary Dystopic Lipidosis (Angiokeratoma Corporis Diffusum Universale) , Arch Ophthal 69:708-716 ( (June) ) 1963.Crossref 9. Sweeley, C. C., and Klionsky, B.: " Glycolipid Lipoidosis: Fabry's Disease ," in Stanbury, J. B.; Wyngaarden, J. B.; and Fredrickson, D. S.: Metabolic Basis of Inherited Disease , ed 2, New York: McGraw-Hill Book Co., Inc., chap 29, to be published. 10. Head, G. D.: Multiple Hemangiomas of Skin Associated With Dyspituitarism , Arch Intern Med 20:24-31 ( (July) ) 1917.Crossref 11. Cross, E. G.: Familial Occurrence of Erythromelalgia and Nephritis , Canad Med Ass J 87:1-4, ( (July 7) ) 1962. 12. Scriba, K.: Zur Pathogenese des Angiokeratoma corporis diffusum Fabry mit cardio-vasorenalem Symptomenkomplex , Ver Deutsch Path Ges 34:221-226, 1951. 13. Rahman, A. N., and Lindenberg, R.: Neuropathology of Hereditary Dystopic Lipidosis , Arch Neurol 9:373-385 ( (Oct) ) 1961.Crossref 14. Günther, H.: Anhidrosis und Diabetes insipidus , Z Klin Med 78:53-63, 1913. 15. Von Gemmingen, G., and Kierland, R. R.: Unpublished data. 16. Lobitz, W. C., Jr., and Campbell, C. J.: Physiologic Studies in Atopic Dermatitis (Disseminated Neurodermatitis): I. Local Cutaneous Response to Intradermally Injected Acetylcholine and Epinephrine , AMA Arch Derm Syph 67:575-584 ( (June) ) 1953.Crossref 17. Lobitz, W. C., Jr.; Heller, M. L.; and Dobson, R. L.: Physiologic Studies in Atopic Dermatitis (Disseminated Neurodermatitis): II. Effect of Denervation on the "Delayed Blanch Phenomenon," AMA Arch Derm 75:228-229 ( (Feb) ) 1957.Crossref 18. Lewis, T., and Grant, R. T.: Vascular Reactions to Skin to Injury: II. Liberation of Histamine-like Substance in Injured Skin; Underlying Cause of Factitious Urticaria and of Wheals Produced by Burning; and Observations Upon Nervous Control of Certain Skin Reactions , Heart 11:209-265 ( (May 16) ) 1924. 19. Fabry, J.: Ein Beitrag zur Kenntniss der Purpura haemorrhagica nodularis (Purpura papulosa haemorrhagica Hebrae) , Arch Derm Syph 43:187-200, 1898.Crossref 20. Sibley, W. K.: Meeting held on March 21, 1918 , Brit J Derm 30:109-111 ( (April) -June) 1918. 21. Ruiter, M.: Histological Investigation of Skin in Angiokeratoma Corporis Diffusum in Particular With Regard to Associated Disturbance of Phosphatid Metabolism , Dermatologica 109:273-286, 1954.Crossref 22. Pittelkow, R. B.; Kierland, R. R.; and Montgomery, H.: Polariscopic and Histochemical Studies in Angiokeratoma Corporis Diffusum , AMA Arch Derm 76:59-64 ( (July) ) 1957.Crossref 23. Pittelkow, R. B.; Kierland, R. R.; and Montgomery, H.: Angiokeratoma Corporis Diffusum , AMA Arch Derm 72:556-561 ( (Dec) ) 1955.Crossref 24. De Groot, W. P.: Thesaurismosis Hereditaria Lipoidica Ruiter-Pompen-Wyers (Angiokeratoma Corporis diffusum van Fabry) , Nederl T Geneesk 107:687-693 ( (April 13) ) 1963. 25. De Groot, W. P.: Angiokeratoma Corporis Diffusum Fabry (Thesaurismosis Hereditaria Ruiter-Pompen-Wyers) , Dermatologica 128:321-349, 1964.Crossref 26. Cunningham, R. S., and Krauel, L. H.: Angiokeratoma Corporis Diffusum Universale (Fabry): Report of Case With Symptomatic Improvement on Menadione , Northwest Med 56:170-171 ( (Feb) ) 1957. 27. Gomori, G.: Microscopic Histochemistry: Principles and Practice , Chicago: University of Chicago Press, 1952, 273 pp. 28. Winkelmann, R. K.: Nerve Endings in Normal and Pathologic Skin: Contributions to Anatomy of Sensation , Springfield, Ill.: Charles C Thomas, Publisher, 1960, pp 195. 29. Wertheim, L.: " Angiokeratoma Corporis ," in Handbuch der Haut- und Geschlechtskrankheiten , Berlin: Springer-Verlag, 1932, vol 12, pt (2) , pp 423-428. 30. Serri, F.; Montagna, W.; and Huber, W. M.: Studies of Skin of Fetus and Child: Distribution of Alkaline Phosphatase in Skin of Fetus , Arch Derm 87:234-245 ( (Feb) ) 1963.Crossref 31. Scheen, S. R., Jr., and Winkelmann, R. K.: Alkaline Phosphatase in Skin of Certain Animals , Arch Derm 83:439-446 ( (March) ) 1961.Crossref 32. McGrae, J. D., Jr., and Winkelmann, R. K.: Generalized Essential Telangiectasia: Report of Clinical and Histochemical Study of 13 Patients With Acquired Cutaneous Lesions , JAMA 185:909-913 ( (Sept 21) ) 1963.Crossref 33. De Groot, W. P.: Personal communication to the authors. 34. Mann, J. D., et al: A Sex-Linked Blood Group , Lancet 1:8-10 ( (Jan 6) ) 1962.Crossref http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Dermatology American Medical Association

Angiokeratoma Corporis Diffusum (Fabry's Disease)

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References (33)

Publisher
American Medical Association
Copyright
Copyright © 1965 American Medical Association. All Rights Reserved.
ISSN
0003-987X
eISSN
1538-3652
DOI
10.1001/archderm.1965.01600090014003
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Abstract

Abstract A pedigree which includes five males and one female with clinical evidence of angiokeratoma corporis diffusum universale (ACD) is presented. The pattern of involvement lends support to a sex-linked, recessive mode of transmission. ACD cutaneous lesions were examined by histochemical methods, and the results and conclusions are discussed. Cutaneous vasomotor and sudomotor reactions to intradermally injected chemical agents are recorded. The finding of a peculiar histiocytic cell in the bone marrow aspirate is described. References 1. Opitz, J. M.; Stiles, F. C.; Wise, David; von Gemmingen, G. R.; Kierland, R. R.; Race, R. R.; Senger, R.; Cross, E. G.; and De Groot, W. P.: Genetics of Angiokeratoma Corporis Diffusum (ACD, Fabry's Disease) and Its Linkage With Xg(a) Locus. Unpublished data. 2. Sweeley, C. C., and Klionsky, B.: Fabry's Disease: Classification as Sphingolipidosis and Partial Characterization of Novel Glycolipid , J Biol Chem 238:3148-3150 ( (Sept) ) 1963. 3. Anderson, W.: Case of "Angeio-Keratoma," Brit J Derm 10:113-117 ( (April) ) 1898.Crossref 4. Ruiter, M.: Some Further Observations on Angiokeratoma Corporis Diffusum , Brit J Derm 69:137-144 ( (April) ) 1957.Crossref 5. Fessas, P.; Wintrobe, M. M.; and Cartwright, G. E.: Angiokeratoma Corporis Diffusum Universale (Fabry): First American Report of Rare Disorder , AMA Arch Intern Med 95:469-481, 1955.Crossref 6. Wise, D.; Wallace, H. J.; and Jellinek, E. H.: Angiokeratoma Corporis Diffusum: Clinical Study of Eight Affected Families , Quart J Med 31:177-206 ( (April) ) 1962. 7. Rahman, A. N., et al: Angiokeratoma Corporis Diffusum Universale (Hereditary Dystopic Lipidosis) , Trans Ass Amer Physicians 74:366-377, 1961. 8. Rahman, A. N.: Ocular Manifestations of Hereditary Dystopic Lipidosis (Angiokeratoma Corporis Diffusum Universale) , Arch Ophthal 69:708-716 ( (June) ) 1963.Crossref 9. Sweeley, C. C., and Klionsky, B.: " Glycolipid Lipoidosis: Fabry's Disease ," in Stanbury, J. B.; Wyngaarden, J. B.; and Fredrickson, D. S.: Metabolic Basis of Inherited Disease , ed 2, New York: McGraw-Hill Book Co., Inc., chap 29, to be published. 10. Head, G. D.: Multiple Hemangiomas of Skin Associated With Dyspituitarism , Arch Intern Med 20:24-31 ( (July) ) 1917.Crossref 11. Cross, E. G.: Familial Occurrence of Erythromelalgia and Nephritis , Canad Med Ass J 87:1-4, ( (July 7) ) 1962. 12. Scriba, K.: Zur Pathogenese des Angiokeratoma corporis diffusum Fabry mit cardio-vasorenalem Symptomenkomplex , Ver Deutsch Path Ges 34:221-226, 1951. 13. Rahman, A. N., and Lindenberg, R.: Neuropathology of Hereditary Dystopic Lipidosis , Arch Neurol 9:373-385 ( (Oct) ) 1961.Crossref 14. Günther, H.: Anhidrosis und Diabetes insipidus , Z Klin Med 78:53-63, 1913. 15. Von Gemmingen, G., and Kierland, R. R.: Unpublished data. 16. Lobitz, W. C., Jr., and Campbell, C. J.: Physiologic Studies in Atopic Dermatitis (Disseminated Neurodermatitis): I. Local Cutaneous Response to Intradermally Injected Acetylcholine and Epinephrine , AMA Arch Derm Syph 67:575-584 ( (June) ) 1953.Crossref 17. Lobitz, W. C., Jr.; Heller, M. L.; and Dobson, R. L.: Physiologic Studies in Atopic Dermatitis (Disseminated Neurodermatitis): II. Effect of Denervation on the "Delayed Blanch Phenomenon," AMA Arch Derm 75:228-229 ( (Feb) ) 1957.Crossref 18. Lewis, T., and Grant, R. T.: Vascular Reactions to Skin to Injury: II. Liberation of Histamine-like Substance in Injured Skin; Underlying Cause of Factitious Urticaria and of Wheals Produced by Burning; and Observations Upon Nervous Control of Certain Skin Reactions , Heart 11:209-265 ( (May 16) ) 1924. 19. Fabry, J.: Ein Beitrag zur Kenntniss der Purpura haemorrhagica nodularis (Purpura papulosa haemorrhagica Hebrae) , Arch Derm Syph 43:187-200, 1898.Crossref 20. Sibley, W. K.: Meeting held on March 21, 1918 , Brit J Derm 30:109-111 ( (April) -June) 1918. 21. Ruiter, M.: Histological Investigation of Skin in Angiokeratoma Corporis Diffusum in Particular With Regard to Associated Disturbance of Phosphatid Metabolism , Dermatologica 109:273-286, 1954.Crossref 22. Pittelkow, R. B.; Kierland, R. R.; and Montgomery, H.: Polariscopic and Histochemical Studies in Angiokeratoma Corporis Diffusum , AMA Arch Derm 76:59-64 ( (July) ) 1957.Crossref 23. Pittelkow, R. B.; Kierland, R. R.; and Montgomery, H.: Angiokeratoma Corporis Diffusum , AMA Arch Derm 72:556-561 ( (Dec) ) 1955.Crossref 24. De Groot, W. P.: Thesaurismosis Hereditaria Lipoidica Ruiter-Pompen-Wyers (Angiokeratoma Corporis diffusum van Fabry) , Nederl T Geneesk 107:687-693 ( (April 13) ) 1963. 25. De Groot, W. P.: Angiokeratoma Corporis Diffusum Fabry (Thesaurismosis Hereditaria Ruiter-Pompen-Wyers) , Dermatologica 128:321-349, 1964.Crossref 26. Cunningham, R. S., and Krauel, L. H.: Angiokeratoma Corporis Diffusum Universale (Fabry): Report of Case With Symptomatic Improvement on Menadione , Northwest Med 56:170-171 ( (Feb) ) 1957. 27. Gomori, G.: Microscopic Histochemistry: Principles and Practice , Chicago: University of Chicago Press, 1952, 273 pp. 28. Winkelmann, R. K.: Nerve Endings in Normal and Pathologic Skin: Contributions to Anatomy of Sensation , Springfield, Ill.: Charles C Thomas, Publisher, 1960, pp 195. 29. Wertheim, L.: " Angiokeratoma Corporis ," in Handbuch der Haut- und Geschlechtskrankheiten , Berlin: Springer-Verlag, 1932, vol 12, pt (2) , pp 423-428. 30. Serri, F.; Montagna, W.; and Huber, W. M.: Studies of Skin of Fetus and Child: Distribution of Alkaline Phosphatase in Skin of Fetus , Arch Derm 87:234-245 ( (Feb) ) 1963.Crossref 31. Scheen, S. R., Jr., and Winkelmann, R. K.: Alkaline Phosphatase in Skin of Certain Animals , Arch Derm 83:439-446 ( (March) ) 1961.Crossref 32. McGrae, J. D., Jr., and Winkelmann, R. K.: Generalized Essential Telangiectasia: Report of Clinical and Histochemical Study of 13 Patients With Acquired Cutaneous Lesions , JAMA 185:909-913 ( (Sept 21) ) 1963.Crossref 33. De Groot, W. P.: Personal communication to the authors. 34. Mann, J. D., et al: A Sex-Linked Blood Group , Lancet 1:8-10 ( (Jan 6) ) 1962.Crossref

Journal

Archives of Dermatology – American Medical Association

Published: Mar 1, 1965

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