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THROUGH THE LENS
Year : 2012  |  Volume : 3  |  Issue : 2  |  Page : 156  

Anonychia congenita


Department of Dermatology, L. T. M. Medical College and General Hospital, Sion, Mumbai, India

Date of Web Publication29-May-2012

Correspondence Address:
Ganesh Avhad
Room No. 304, New RMO Hostel, L. T. M. Medical College and General Hospital, Sion, Mumbai 400 022
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/2229-5178.96729

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How to cite this article:
Avhad G, Jerajani H R. Anonychia congenita. Indian Dermatol Online J 2012;3:156

How to cite this URL:
Avhad G, Jerajani H R. Anonychia congenita. Indian Dermatol Online J [serial online] 2012 [cited 2019 Dec 12];3:156. Available from: http://www.idoj.in/text.asp?2012/3/2/156/96729

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.
Figure 1: Absence of all toenails except the right big toe nail

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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. [1] 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. [2]

Treatment remains masterly inactivity or artificial nails.

 
   References Top

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.  Back to cited text no. 1
[PUBMED]    
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.  Back to cited text no. 2
    


    Figures

  [Figure 1]


This article has been cited by
1 A Case Report on Autosomal Recessive Total Congenital Anonychia
Ilknur Balta,Goknur Kalkan
Pediatric Dermatology. 2013; 30(6): e268
[Pubmed] | [DOI]



 

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