Medicine:Tooth and nail syndrome

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Tooth and nail syndrome
This condition is inherited in an autosomal dominant manner.

Tooth and nail syndrome (also known as hypodontia with nail dysgenesis, Witkop syndrome, or mucoepithelial dysplasia syndrome)[1][2] is a rare disorder, first described in 1965, characterized by nails that are thin, small, and friable, and which may show koilonychia at birth.[2]: 521 [3] It was named after Dr. Carl J. Witkop Jr., who first described it between 1978 and 1982.[1] It is an autosomal dominant type of ectodermal dysplasia.[4] Its estimated incidence is 2 in 10,000.[4] It is associated with MSX1.[5]

See also

  • Skin lesion
  • List of cutaneous conditions

References

  1. ↑ 1.0 1.1 Gorlin, Robert J.; Cohen, M. Michael; Hennekam, Raoul (2001-09-27) (in en). Syndromes of the Head and Neck. Oxford University Press. pp. 539. ISBN 978-0-19-974772-6. https://books.google.com/books?id=mSUnOoCvQWAC. 
  2. ↑ 2.0 2.1 Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
  3. ↑ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. pp. 880. ISBN 978-1-4160-2999-1. 
  4. ↑ 4.0 4.1 DeLuke, Dean M. (2014-09-05) (in en). Syndromes of the Head and Neck, An Issue of Atlas of the Oral & Maxillofacial Surgery Clinics. Elsevier Health Sciences. pp. 139. ISBN 978-0-323-32313-0. https://books.google.com/books?id=jqoTBQAAQBAJ. 
  5. ↑ "A nonsense mutation in MSX1 causes Witkop syndrome". Am. J. Hum. Genet. 69 (1): 67–74. July 2001. doi:10.1086/321271. PMID 11369996. 
Classification




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