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Autosomal Recessive Pachyonychia Congenita

Autosomal Recessive Pachyonychia Congenita Abstract • We report the second and third cases of pachyonychia congenita inherited as an autosomal recessive disorder. Our cases were unusual, with the fingernails showing a striking leukonychia and appearing clinically as Terry's nails. These patients were originally diagnosed as having epidermolysis bullosa simplex because of a history of a life-long blistering disorder. The clinical features and inheritance of pachyonychia congenita, as well as the reasons for the long delay in diagnosis of our cases, are discussed. (Arch Dermatol 1986;122:919-923) References 1. Zaias N: The Nail in Health and Disease . Jamaica, NY, Spectrum Publications Inc, 1980, pp 50-51. 2. Terry R: White nails in hepatic cirrhosis . Lancet 1954;1:757-759.Crossref 3. Jadassohn J, Lewandowsky F: Pachyonychia congenita , in Neisser A, Jacobi E (eds): Ikonographia Dermatologica. Baltimore, Urban & Schwarzenberg, 1906, p 29. 4. Kumer L, Loos HO: Ueber Pachyonychia Congenita (Typus Riehl) . Wien Klin Wochenschr 1935;6:174-178. 5. Schönfeld PHIR: The pachyonychia congenita syndrome . Acta Derm Venereol 1980;60:45-49. 6. Jackson ADM: Pachyonychia congenita: A report of six cases in one family . Ann Eugen 1951;16:142-145.Crossref 7. Hodes ME, Norins AL: Pachyonychia congenita and steatocystoma multiplex . Clin Genet 1977;11:359-364.Crossref 8. McKusick VA: Mendelian Inheritance in Man , ed 6. Baltimore, The Johns Hopkins University Press, 1983, pp 401-402. 9. Chong-Hai T, Rajagopalan DDM: Pachyonychia congenita with recessive inheritance . Arch Dermatol 1977;113:685-686.Crossref 10. Samman PD: The Nails in Disease , ed 3. London, Heinemann Medical Books Ltd, 1978, pp 162-167. 11. Forslind B, Nylén B, Swanbeck G, et al: Pachyonychia congenita: A histologic and microradiographic study . Acta Derm Venereol 1973;53:211-216. 12. Moldenhauer E, Ernst K: Das Jadassohn-Lewandowsky Syndrom . Hautarzt 1968;19:441-447. 13. Mawhinney H, Creswell S, Beare JM: Pachyonychia congenita with candidiasis . Clin Exp Dermatol 1981;6:145-149.Crossref 14. May SB: Epidermolysis bullosa with pachyonychia in three generations . Arch Dermatol 1962;85:662-663.Crossref 15. Soderquist NA, Reed WB: Pachyonychia congenita with epidermal cysts and other congenital dyskeratoses . Arch Dermatol 1968;97:31-33.Crossref 16. Haneke E, Anton-Lamprecht I: Ultrastructure of blister formation in epidermolysis bullosa hereditaria: V. Epidermolysis bullosa simplex localisata type Weber-Cockayne . J Invest Dermatol 1982;78:219-223.Crossref 17. Thormann J, Kobayasi T: Pachyonychia congenita Jadassohn-Lewandowsky: A disorder of keratinization . Acta Derm Venereol 1977;57:63-67. 18. Wilkin JK, Rosenberg EW, Kangaki T: Cornoid lamella in pachyonychia congenita . Arch Dermatol 1978;114:1795-1796.Crossref 19. Ruiz-Maldonado R, Tamaya L: Pachyonychia congenita (Jadassohn-Lewandowsky) and Kyrle's disease in the same patient . Int J Dermatol 1977;16:675-678.Crossref http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Dermatology American Medical Association

Autosomal Recessive Pachyonychia Congenita

Archives of Dermatology , Volume 122 (8) – Aug 1, 1986

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Publisher
American Medical Association
Copyright
Copyright © 1986 American Medical Association. All Rights Reserved.
ISSN
0003-987X
eISSN
1538-3652
DOI
10.1001/archderm.1986.01660200091023
Publisher site
See Article on Publisher Site

Abstract

Abstract • We report the second and third cases of pachyonychia congenita inherited as an autosomal recessive disorder. Our cases were unusual, with the fingernails showing a striking leukonychia and appearing clinically as Terry's nails. These patients were originally diagnosed as having epidermolysis bullosa simplex because of a history of a life-long blistering disorder. The clinical features and inheritance of pachyonychia congenita, as well as the reasons for the long delay in diagnosis of our cases, are discussed. (Arch Dermatol 1986;122:919-923) References 1. Zaias N: The Nail in Health and Disease . Jamaica, NY, Spectrum Publications Inc, 1980, pp 50-51. 2. Terry R: White nails in hepatic cirrhosis . Lancet 1954;1:757-759.Crossref 3. Jadassohn J, Lewandowsky F: Pachyonychia congenita , in Neisser A, Jacobi E (eds): Ikonographia Dermatologica. Baltimore, Urban & Schwarzenberg, 1906, p 29. 4. Kumer L, Loos HO: Ueber Pachyonychia Congenita (Typus Riehl) . Wien Klin Wochenschr 1935;6:174-178. 5. Schönfeld PHIR: The pachyonychia congenita syndrome . Acta Derm Venereol 1980;60:45-49. 6. Jackson ADM: Pachyonychia congenita: A report of six cases in one family . Ann Eugen 1951;16:142-145.Crossref 7. Hodes ME, Norins AL: Pachyonychia congenita and steatocystoma multiplex . Clin Genet 1977;11:359-364.Crossref 8. McKusick VA: Mendelian Inheritance in Man , ed 6. Baltimore, The Johns Hopkins University Press, 1983, pp 401-402. 9. Chong-Hai T, Rajagopalan DDM: Pachyonychia congenita with recessive inheritance . Arch Dermatol 1977;113:685-686.Crossref 10. Samman PD: The Nails in Disease , ed 3. London, Heinemann Medical Books Ltd, 1978, pp 162-167. 11. Forslind B, Nylén B, Swanbeck G, et al: Pachyonychia congenita: A histologic and microradiographic study . Acta Derm Venereol 1973;53:211-216. 12. Moldenhauer E, Ernst K: Das Jadassohn-Lewandowsky Syndrom . Hautarzt 1968;19:441-447. 13. Mawhinney H, Creswell S, Beare JM: Pachyonychia congenita with candidiasis . Clin Exp Dermatol 1981;6:145-149.Crossref 14. May SB: Epidermolysis bullosa with pachyonychia in three generations . Arch Dermatol 1962;85:662-663.Crossref 15. Soderquist NA, Reed WB: Pachyonychia congenita with epidermal cysts and other congenital dyskeratoses . Arch Dermatol 1968;97:31-33.Crossref 16. Haneke E, Anton-Lamprecht I: Ultrastructure of blister formation in epidermolysis bullosa hereditaria: V. Epidermolysis bullosa simplex localisata type Weber-Cockayne . J Invest Dermatol 1982;78:219-223.Crossref 17. Thormann J, Kobayasi T: Pachyonychia congenita Jadassohn-Lewandowsky: A disorder of keratinization . Acta Derm Venereol 1977;57:63-67. 18. Wilkin JK, Rosenberg EW, Kangaki T: Cornoid lamella in pachyonychia congenita . Arch Dermatol 1978;114:1795-1796.Crossref 19. Ruiz-Maldonado R, Tamaya L: Pachyonychia congenita (Jadassohn-Lewandowsky) and Kyrle's disease in the same patient . Int J Dermatol 1977;16:675-678.Crossref

Journal

Archives of DermatologyAmerican Medical Association

Published: Aug 1, 1986

References