Anonychia
| Anonychia | |
|---|---|
| Specialty | Dermatology  |
Anonychia is the absence of nails, a rare anomaly, which may be the result of a congenital ectodermal defect, ichthyosis, severe infection, severe allergic contact dermatitis, self-inflicted trauma, Raynaud phenomenon, lichen planus, epidermolysis bullosa, or severe exfoliative diseases.[1]: 784
Congenital form
This is rare and is usually due to mutations in the R-spondin 4 (RSPO4) gene which is located on the short arm of chromosome 20 (20p13).[2] Clinically it is manifest by the absence (anonychia) or hypoplasia (hyponuchia) of finger- and/or toenails.
See also
References
- ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
- ^ Khan TN, Klar J, Nawaz S, Jameel M, Tariq M, Malik NA, Baig SM, Dahl N (2012) Novel missense mutation in the RSPO4 gene in congenital hyponychia and evidence for a polymorphic initiation codon (p.M1I). BMC Med Genet 13(1):120