The Association of Albinism with Pseudohemophilia
Authors: MARTHA C. LARSEN
Journal: Annals of Internal Medicine (1962)

Case Reports1 March 1962The Association of Albinism with PseudohemophiliaMARTHA C. LARSEN, M.D., ALLYN B. LEY, M.D., MARJORIE B. ZUCKER, PH.D., LUCILE E. LOSEKE, M.D.MARTHA C. LARSEN, M.D., ALLYN B. LEY, M.D., MARJORIE B. ZUCKER, PH.D., LUCILE E. LOSEKE, M.D.Author, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-56-3-504 SectionsAboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail ExcerptThe association of albinism with other physical abnormalities is not unusual. Some of these, such as nystagmus and basal cell carcinoma, appear to be acquired and to result from the lack of retinal (1) or skin pigment (2). Others, such as deafness, oligophrenia, and Polydactyly (3), are congenital and presumably under genetic control, but the interrelationships between albinism and these defects are not clear. Recently, the occurrence of pseudohemophilia (von Willebrand's disease) has been reported in two unrelated albinos (4). Furthermore, one additional instance (5) of the association of the two abnormalities became evident in reviewing reported series of von...References1. DUKE-ELDER WS: Textbook of Ophthalmology, vol. 4, The C. V. Mosby Company, St. Louis, 1949, p. 4214. Google Scholar2. KNOX WE: Sir Archibald Garrod's inborn errors of metabolism. III. Albinism. Amer. J. Human Genet. 10: 249, 1958. MedlineGoogle Scholar3. SORSBY A: Clinical Genetics, Lindon, Butterworth & Company, Toronto, 1953. Google Scholar4. HERMANSKYPUDAK FP: Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies. Blood 14: 162, 1959. CrossrefMedlineGoogle Scholar5. HORLERWITTS ARLJ: Hereditary capillary purpura (von Willebrand's disease). Quart. J. Med. 51: 173, 1958. Google Scholar6. LEWISFERGUSONFRESHZUCKER JHJHJWMB: Primary hemorrhagic diseases. J. Lab. Clin. Med. 49: 211, 1957. MedlineGoogle Scholar7. SUSSMANCOHENGITTLER LMIBR: Clinical application of simplified serum prothrombin consumption test. J. A. M. A. 156: 702, 1954. CrossrefMedlineGoogle Scholar8. BIGGSMACFARLANE RRG: Human Blood Coagulation and Its Disorders, Blackwell, Oxford, 1957, p. 422. Google Scholar9. BIGGSEVELINGRICHARDS RJG: The assay of anti-haemophilic-globulin activity. Brit. J. Haemat. 1: 20, 1955. CrossrefMedlineGoogle Scholar10. WINTROBE MM: Clinical Hematology, 4th ed., Lea & Febiger, Philadelphia, 1956. Google Scholar11. PITNEYARNOLD WRBJ: Laboratory findings in families of patients suffering from von Willebrand's disease. Brit. J. Haemat. 6: 81, 1960. CrossrefMedlineGoogle Scholar12. RACCUGLIANEEL GJV: Congenital vascular defect associated with platelet abnormality and anti-hemophilic factor deficiency. Blood 15: 807, 1960. CrossrefMedlineGoogle Scholar13. BUCHANANLEAVELL JCBS: Pseudohemophilia: report of 13 new cases and statistical review of previously reported cases. Ann. Intern. Med. 44: 241, 1956. LinkGoogle Scholar14. VON WILLEBRAND EA: Uber hereditöre Pseudohämophilie. Acta Med. Scand. 76: 521, 1931. CrossrefGoogle Scholar15. IMERSLUND O: Familial haemorrhagic diatheses with prolonged bleeding time (pseudohaemophilia, thrombopathias). Acta Paediat. 38: 311, 1949. CrossrefGoogle Scholar16. YOUNG TE: Malignant melanoma in an albino. Arch. Path. 64: 186, 1957. Google Scholar17. STANBURYWYNGAARDENFREDRICKSON JBJBDS: The Metabolic Basis of Inherited Disease, McGraw-Hill Book Company, Inc., New York, 1960, p. 431. Google Scholar18. SHAPIROKEENCOHENMURRAY MPPLJP: Skin cancer in the South African bantu. Brit. J. Cancer 7: 45, 1953. CrossrefMedlineGoogle Scholar This content is PDF only. To continue reading please click on the PDF icon. Author, Article, and Disclosure InformationAffiliations: New York, New YorkFrom the Department of Medicine, the Rectal Service, and the Divisions of Clinical Investigation and Experimental Surgery, Memorial Sloan-Kettering Cancer Center, New York, New York.Supported in part by the United States Army Medical Research and Development Command, Department of the Army, under Contract No. DA-49-193-MD-2072, and by Grant CY-3809(C2) from the National Cancer Institute.Requests for reprints should be addressed to Martha C. Larsen, M.D., 444 East 68th Street, New York 21, New York. PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics Cited byPleiotropisms Associated with Alleles of the C Locus in the Domestic FowlOphthalmic Manifestations of the Hermansky-Pudlak Syndrome (Oculocutaneous Albinism and Hemorrhagic Diathesis)THE PLATELET DEFECT ASSOCIATED WITH ALBINISMAlbinism and Abnormal Platelet FunctionGenetik der hämorrhagischen DiathesenMedical genetics 1962 1 March 1962Volume 56, Issue 3Page: 504-507KeywordsBasal cell carcinomasBlood plasmaDeafnessGeneticsHematologic testsHemoglobinNystagmusSurgeryvon Willebrand disease Issue Published: 1 March 1962 PDF downloadLoading ...