CONGENITAL ANONYCHIA TOTALIS : A RARE OCCURRENCE IN A PAKISTANI FAMILY

Saeed Bin Ayaz, Tanvir Ahmed Mujahid, Sumeera Matee, Fatima Ayaz

Abstract


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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