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Hereditary Phlebectasia of the Lips: An Autosomal Dominant Disorder

Hereditary Phlebectasia of the Lips: An Autosomal Dominant Disorder Abstract • A new hereditary syndrome is described in three, perhaps four generations, with a male-to-male transmission that denotes an autosomal dominant inheritance. Usually after the age of 40, there is a swelling of the lower lip by varicosities, a phenomenon usually seen in older individuals. Ten individuals have had this disorder. They do not seem to have any of the hereditary disorders that cause vascular changes in the lips, although the autosomal dominant disorder, Rendu-Osler-Weber syndrome most resembles this disease. (Arch Dermatol 112:712-714, 1976) References 1. Pindborg JJ: Atlas of Diseases of the Oral Mucosa . Philadelphia, WB Saunders Co, 1968, p 92. 2. Halpern M, Turner AF, Citron BP: Hereditary hemorrhagic telangiectasia: A visceral angiodysplasia associated with gastrointestinal hemorrhage . Radiology 90:1143-1144, 1968.Crossref 3. Hodgson CH, Burchell HB, Good CA, et al: Hereditary hemorrhagic telangiectasies and pulmonary arteriovenous fistula . N Engl J Med 261:625-636, 1959.Crossref 4. Hashimoto K, Pritzken MS: Hereditary hemorrhagic telangiectasia . Oral Surg 34:751-767, 1972.Crossref 5. Jahnke V: Ultrastructure of hereditary telangiectasia . Arch Otolaryngol 91:262-265, 1970.Crossref 6. Brady RO, Gal AE, Bradley RM, et al: Enzymitic defect in Fabry's disease: Ceramidetrihexosidase deficiency . N Engl J Med 276:1163-1167, 1967.Crossref 7. Opitz JM, Stiles FC, Wise D, et al: The genetics of angiokeratoma corporis diffusum (Fabry's disease) and its linkage relations with the xG locus . Am J Hum Genet 17:325-342, 1965. 8. Fine RM, Derbes VJ, Clark WH: Blue rubber bleb nevus . Arch Dermatol 84:802-805, 1961.Crossref 9. Fretzin DF, Pitler B: Blue rubber bleb nevus . Arch Intern Med 116:924-929, 1965.Crossref 10. Sakune HT, Sugai T, Saito T: Association of blue rubber bleb nevus and Maffucci's syndrome . Arch Dermatol 95:28-36, 1967.Crossref 11. Kennedry OG: Dyschondroplasia and hemangiomata (Maffucci's syndrome): Report of a case with oral and intracranial lesions . Br Dent J 135:18-21, 1973.Crossref http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Dermatology American Medical Association

Hereditary Phlebectasia of the Lips: An Autosomal Dominant Disorder

Archives of Dermatology , Volume 112 (5) – May 1, 1976

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Publisher
American Medical Association
Copyright
Copyright © 1976 American Medical Association. All Rights Reserved.
ISSN
0003-987X
eISSN
1538-3652
DOI
10.1001/archderm.1976.01630290060013
Publisher site
See Article on Publisher Site

Abstract

Abstract • A new hereditary syndrome is described in three, perhaps four generations, with a male-to-male transmission that denotes an autosomal dominant inheritance. Usually after the age of 40, there is a swelling of the lower lip by varicosities, a phenomenon usually seen in older individuals. Ten individuals have had this disorder. They do not seem to have any of the hereditary disorders that cause vascular changes in the lips, although the autosomal dominant disorder, Rendu-Osler-Weber syndrome most resembles this disease. (Arch Dermatol 112:712-714, 1976) References 1. Pindborg JJ: Atlas of Diseases of the Oral Mucosa . Philadelphia, WB Saunders Co, 1968, p 92. 2. Halpern M, Turner AF, Citron BP: Hereditary hemorrhagic telangiectasia: A visceral angiodysplasia associated with gastrointestinal hemorrhage . Radiology 90:1143-1144, 1968.Crossref 3. Hodgson CH, Burchell HB, Good CA, et al: Hereditary hemorrhagic telangiectasies and pulmonary arteriovenous fistula . N Engl J Med 261:625-636, 1959.Crossref 4. Hashimoto K, Pritzken MS: Hereditary hemorrhagic telangiectasia . Oral Surg 34:751-767, 1972.Crossref 5. Jahnke V: Ultrastructure of hereditary telangiectasia . Arch Otolaryngol 91:262-265, 1970.Crossref 6. Brady RO, Gal AE, Bradley RM, et al: Enzymitic defect in Fabry's disease: Ceramidetrihexosidase deficiency . N Engl J Med 276:1163-1167, 1967.Crossref 7. Opitz JM, Stiles FC, Wise D, et al: The genetics of angiokeratoma corporis diffusum (Fabry's disease) and its linkage relations with the xG locus . Am J Hum Genet 17:325-342, 1965. 8. Fine RM, Derbes VJ, Clark WH: Blue rubber bleb nevus . Arch Dermatol 84:802-805, 1961.Crossref 9. Fretzin DF, Pitler B: Blue rubber bleb nevus . Arch Intern Med 116:924-929, 1965.Crossref 10. Sakune HT, Sugai T, Saito T: Association of blue rubber bleb nevus and Maffucci's syndrome . Arch Dermatol 95:28-36, 1967.Crossref 11. Kennedry OG: Dyschondroplasia and hemangiomata (Maffucci's syndrome): Report of a case with oral and intracranial lesions . Br Dent J 135:18-21, 1973.Crossref

Journal

Archives of DermatologyAmerican Medical Association

Published: May 1, 1976

References