A case report of Rosenthal-Kloepfer Syndrome
Abstract
Rosenthal-Kloepfer syndrome is a very rare disorder characterized by acromegaloid features, furrowed skin on scalp and face and corneal leukomas. Here we are presenting this rare syndrome in a man who presented with bilateral corneal leukoma, cutis verticis gyrate and acromegaloid features.
References
1. Harbison J B, Nice C M, Jr. Familial pachydermoperiostosis presenting as an acromegaly-like syndrome. Am J Roentgen Radium Ther Nucl Med. 1971;112:532-536,
2. McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders, 12th ed. Baltimore: The Johns Hopkins University Press, 1998
3. Rosenthal, J. W, Kloepfer, H. W. An acromegaloid, cutis verticis gyrata, corneal leukoma syndrome: a new medical entity. Arch. Ophthal. 1962;68:722-726.
4. Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160- 2999-0.
5. Online Mendelian Inheritance in Man, OMIM. McKusick- Nathans Institute for Genetic Medicine, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine, February 12, 2007. http://www. ncbi.nlm.nih.gov/omim/.
6. OMIM ID: 102100 Emery & Rimoin’s: Principles and Practice of Medical Genetics. Church. Livingstone. p.1916, 2007 7. Lyle WM, Williams TD. Genes in Eyecare : geneseyedoc 3. 15
Mar 04.
2. McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders, 12th ed. Baltimore: The Johns Hopkins University Press, 1998
3. Rosenthal, J. W, Kloepfer, H. W. An acromegaloid, cutis verticis gyrata, corneal leukoma syndrome: a new medical entity. Arch. Ophthal. 1962;68:722-726.
4. Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160- 2999-0.
5. Online Mendelian Inheritance in Man, OMIM. McKusick- Nathans Institute for Genetic Medicine, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine, February 12, 2007. http://www. ncbi.nlm.nih.gov/omim/.
6. OMIM ID: 102100 Emery & Rimoin’s: Principles and Practice of Medical Genetics. Church. Livingstone. p.1916, 2007 7. Lyle WM, Williams TD. Genes in Eyecare : geneseyedoc 3. 15
Mar 04.
Published
2019-07-31
How to Cite
Shah R, Shah A, Dadhania J, Kachhadiya K,Dhamelia P. (2019). A case report of Rosenthal-Kloepfer Syndrome. The Indian Practitioner, 69(2), 45-46. Retrieved from https://articles.theindianpractitioner.com/index.php/tip/article/view/490
Section
Case Reports
