|THROUGH THE LENS
|Year : 2012 | Volume
| Issue : 2 | Page : 156
Ganesh Avhad, HR Jerajani
Department of Dermatology, L. T. M. Medical College and General Hospital, Sion, Mumbai, India
|Date of Web Publication||29-May-2012|
Room No. 304, New RMO Hostel, L. T. M. Medical College and General Hospital, Sion, Mumbai 400 022
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Avhad G, Jerajani H R. Anonychia congenita. Indian Dermatol Online J 2012;3:156
A 15-year-old female presented with absence of toenails since birth [Figure 1]. On examination, there was absence of nine toenails; the right big toenail was normal. Fingernails were also normal. No abnormality of the bone and teeth was present. Radiography of both feet showed no abnormality. The patient had normal intelligence. There was no family history. Based on the clinical features and history, a diagnosis of congenital nonsyndromic simple partial anonychia was made.
Anonychia (absence of nails) is a very rare congenital or acquired anomaly. It may occur as a single feature or as part of a syndrome. Nonsyndromic anonychia has been reported in either partial or total forms. Simple anonychia means congenital absence of the nails without any other coexisting major congenital anomaly, and is extremely rare.  It is caused due to frameshift and nonconservative missense mutation in the exon 2 of R-spondin 4 gene present on chromosome 20p13, which affects the highly conserved first furin-like cysteine-rich domain that plays a crucial role in nail morphogenesis, resulting in absence of nails. 
Treatment remains masterly inactivity or artificial nails.
| References|| |
|1.||Priolo M, Rosaia L, Seri M, Silengo MC, Ravazzolo R, Lerone M. Total anonychia congenita in a woman with normal intelligence: Report of a further case. Dermatology 2000;200:84-5. |
|2.||Blaydon DC, Ishii Y, O'Toole EA, Unsworth HC, Teh MT, Rüschendorf F, et al. The gene encoding r-spondin 4 (RSPO4), a secreted protein implicated in wnt signaling, is mutated in inherited anonychia. Nat Genet 2006;38:1245-7. |