International Journal of Health & Allied Sciences

LETTER TO EDITOR
Year
: 2012  |  Volume : 1  |  Issue : 1  |  Page : 32--33

A rare case of isolated congenital complete simple anonychia


Hari Kishan Kumar Yadalla, R Nitya, C Sujatha 
 Department of Dermatology, M.V.J. Medical College and ­Research Hospital, Hoskote, Kolathur Post, Bangalore, India

Correspondence Address:
Hari Kishan Kumar Yadalla
Skin Care Clinic, 70, Padma Nivasa, H.V. Halli, M.G. Extension, Raja Rajeswari Nagar, Bangalore 560 098
India




How to cite this article:
Yadalla HK, Nitya R, Sujatha C. A rare case of isolated congenital complete simple anonychia.Int J Health Allied Sci 2012;1:32-33


How to cite this URL:
Yadalla HK, Nitya R, Sujatha C. A rare case of isolated congenital complete simple anonychia. Int J Health Allied Sci [serial online] 2012 [cited 2021 Apr 11 ];1:32-33
Available from: https://www.ijhas.in/text.asp?2012/1/1/32/96419


Full Text

Sir,

A 10-year-old female child was brought to our OPD by her apprehensive parents with complaints of complete absence of nails (anonychia) over all the fingers of hands and feet. The fingers with anonychia felt very soft and compressible at their tips [Figure 1] and [Figure 2] Hand function was normal and sensations were intact. She was otherwise asymptomatic and systemic examination did not reveal any abnormality. On further questioning, parents mentioned that she had this anomaly since birth. She was born of a consanguineous marriage and was the eldest among two siblings. Her parents and other sibling were normal. Her day-to-day activities were not compromised by this anomaly in any way.{Figure 1}{Figure 2}

Radiological examination was unremarkable. All fingers were normal, the metacarpals, metatarsals, carpal, and tarsal bones were normal in shape and alignment on both sides. Her hair, teeth, and mucous membranes did not reveal any abnormality [Figure 3].{Figure 3}

Anonychia (absence of nails) is a very rare congenital or acquired anomaly. Congenital anonychia has been described in association with a wide variety of other congenital anomalies like nail-patella syndrome, DOOR syndrome (deafness, onychodystrophy, osteodystrophy and mental retardation), AEC syndrome (ankyloblepharon, ectodermal defects, cleft lip/palate), EEC syndrome (ectodactyly, ectodermal dysplasia, cleft lip/palate), TOOD syndrome (tricho-odonto-onycho-dermal), hypohidrotic ectodermal dysplasia with multiple anomalies and various craniofacial malformation syndromes. As an underlying bone is a prerequisite for the development of a normal nail, anonychia or hyponychia may occur when the terminal phalynx is either hypoplastic or completely absent. [1] Simple anonychia, meaning the congenital absence of the nails without any other coexisting major congenital anomaly, is an extremely rare variety of this condition. This is mostly due to autosomal recessive inheritance. Isolated anonychia without any associated phenotypical disturbances is one of the rarest anomalies of congenital nail disorders. Some or all fingers of the hands or feet could be affected. Anonychia can also be encountered in dermatologic disorders like pemphigus, lichen planus, icthyosis, severe infection, severe allergic contact dermatitis, self-inflicted trauma, Raynaud phenomenon, severe exfoliative diseases, epidermolysis bullosa, and as a sequel of Stevens-Johnson syndrome. [1],[2]

Nail development begins at 8-10 weeks of expected gestational age (EGA) and is completed by the fifth month of EGA. The flat rectangular surface of the future nail bed on the dorsal tips is first demarcated by folds visible at 8-10 weeks of EGA. [2] Drugs administered to the mother during the first and second trimester of pregnancy are extremely significant factors for nail formation. Phenytoin and warfarin may cause hypoplasia of nails, while alcohol may lead to possible anonychia. [3] However in our case, mother had an uneventful pregnancy and was not on any medication.

The mode of inheritance of most of these disorders has not yet been established with certainty. Isolated, nonsyndromic anonychia may present either as an autosomal dominant form that affects only the thumbs or in its severe, autosomal recessively inherited variant, with involvement of all digits and toes. Recently, the gene RSPO4 was identified as being responsible for anonychia. It is a member of the R-spondin family of secreted proteins that play a major role in activating the Wnt/beta-catenin signaling pathway, which plays a pivotal role in embryonic development, growth regulation, and cancer development. [4],[5] Due to lack of facilities, chromosomal studies and gene mapping studies could not be undertaken. Further, a negative family history probably is less likely to be of a dominant mode inheritance in our patient.

Littman and Levin described a brother and sister with absent nails in seven digits and suggested the condition to be of recessive inheritance. [6] In the light of negative family history, our case could also be presumed to be of recessive inheritance, a chance mutation or an isolated developmental defect. Anonychia in association with neurological defects such as choreoathetosis and epilepsy, in a family showing a vertical transmission was described. [7] In our case, the patient did not have any neurological symptoms or signs suggestive of such a syndrome. Since our patient had no interference in her day-to-day activities because of this anomaly, she was reassured with no treatment. The present case is being reported for its rare occurrence of anonychia congenita in its complete form.

References

1Cynthia AL, Tamakoss D. Embryology. In: Bolognia JL, Jorizzo JL, Rapini RP, editors. Dermatology. 2 nd ed. India: Mosby Elsevier; 2008. p. 37-47.
2Samman PD. The nails. In: Rook A, Wilkinson DS, Ebling FJG, editors. Text Book of dermatology. 3 rd ed. New Delhi: CBS Publishers; 1986. p. 1823-55.
3Lawry M, Daniel CR. Nails in systemic disease. In: Scher RK, Daniel CR, editors. Nails: Diagnosis, Therapy, Surgery. 3 rd ed. Philidelphia: Elsevier Science Limited; 2005. p. 147-69.
4Blaydon 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.
5Ishii Y, Wajid M, Bazzi H, Fantauzzo KA, Barber AG, Blaydon DC, et al. Mutations in R-spondin 4 (RSPO4) underlie inherited anonychia. J Invest Dermatol 2008;128:867-70.
6Littman A, Levin S. Anonychia as a recessive autosomal trait in man. J Investigative Dermatol 1964;42:177-8.
7Mété D, Hurbin E, Wind P. Congenital anonychia. Rev Prat 2006;56:1874.