Tooth and nail syndrome
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| Tooth and nail syndrome | |
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| 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][page needed] 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
References
- ↑ 1.0 1.1 Gorlin, Robert J.; Cohen, M. Michael; Hennekam, Raoul (2001-09-27). Syndromes of the Head and Neck. Oxford University Press. p. 539. ISBN 978-0-19-974772-6.
- ↑ 2.0 2.1 Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
- ↑ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. p. 880. ISBN 978-1-4160-2999-1.
- ↑ 4.0 4.1 DeLuke, Dean M. (2014-09-05). Syndromes of the Head and Neck, An Issue of Atlas of the Oral & Maxillofacial Surgery Clinics. Elsevier Health Sciences. p. 139. ISBN 978-0-323-32313-0.
- ↑ Jumlongras D, Bei M, Stimson JM, et al. (July 2001). "A nonsense mutation in MSX1 causes Witkop syndrome". Am. J. Hum. Genet. 69 (1): 67–74. doi:10.1086/321271. PMC 1226049. PMID 11369996.
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