Does the nail discoloration in this boy signal an underlying disorder?

Children’s Mercy Hospital and Clinics, University of Missouri–Kansas City

Dr Shastri is associate professor of pediatrics at the University of Missouri–Kansas City and Dr Fowler is director and section chief in the department of pediatrics, Tom Watson Emergency Department, at Children’s Mercy Hospital South, Overland Park, Kansas.

KIRK BARBER, MD, FRCPC––Series Editor: Dr Barber is a consultant dermatologist at Alberta Children’s Hospital and clinical associate professor of medicine and community health sciences at the University of Calgary in Alberta.

congenital leukonychia totalisCase:A 10-year-old boy is brought for evaluation of ear pain, which he had for the past 1 day. The mother is also concerned about his white nails. The child was adopted at 1 year of age, and he always had white nails.

The child is found to have an ear infection. All 10 fingernails and 10 toenails are uniformly white. Remaining examination findings, including hair and skin, are normal.

Does the nail discoloration in this boy signal an underlying disorder?

(Answer on next page.)

congenital leukonychia totalisNo, this boy has congenital leukonychia totalis; a workup for underlying disease is unnecessary.

congenital leukonychia totalisLeukonychia can be true leukonychia, in which the pathology involves the nail plate, or pseudoleukonychia, in which the pathology is in the subungual tissue. It can also be classified by the distribution of whiteness as leukonychia punctata, leukonychia striata (A and B), leukonychia totalis (C), and leukonychia partialis.

Diagnosis is made on the basis of the history and clinical examination findings; no diagnostic test is needed.

Familial leukonychia totalis is inherited both as autosomal dominant and recessive patterns. It is also found to be a component of some syndromes, such as Bart-Pumphrey syndrome, which includes leukonychia totalis, sensorineural deafness, palmoplantar keratoderma, and knuckle pads. It can be associated with severe systemic diseases, such as hepatic cirrhosis, chronic renal failure, heart failure, diabetes mellitus, chronic hypoalbuminemia, and Hodgkin lymphoma. It has also been associated with vitilligo caused by sulphonamide ingestion.

Patients with congenital leukonychia require no treatment. A workup for an underlying condition is
unnecessary in an otherwise healthy child who has no features of a systemic disease.