Saeed Bin Ayaz, Tanvir Ahmed Mujahid, Sumeera Matee, Fatima Ayaz.
Congenital Anonychia Totalis: A Rare Occurrence In A Pakistani Family.
J Postgrad Med Inst Jan ;31(1):88-92.

Anonychia totalis is a rare disease characterized by complete absence of finger and toe nails. Possible associations include anomalies of bones, teeth, skull, hair, skin and sweat glands besides hearing and intelligence impairments. We report here a 60-year-old woman with low back pain and tenderness at the lumbosacral spine who was found to have complete absence of all nails, abnormal teeth, dry skin and left ectropion. She was educated about the disease and managed for the backache on rehabilitation guidelines. Gene mapping of her whole family was planned, but she was lost to follow up. This case provides evidence of the presence of this condition in Pakistani population. There is a need for further investigation and pooling of cases to build clinical data about phenotypes and the inheritance patterns of this disorder in our population.

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