Is a novel mutation in the anion exchanger 1 gene associated with familial distal renal tubular acidosis and nephrocalcinosis?
A novel mutation in the AE1 gene was identified in association with autosomal dominant dRTA. We suggest that RTA be considered a diagnostic possibility in all children with failure to thrive and nephrocalcinosis.
A group of patients with moderate to severe cicatricial alopecia of the scalp margin is described. The presence of scarring is difficult to diagnose both clinically and histologically. The lack of a history of severe traction or harsh styling practices in half the patients casts doubt on whether or not traction is the only pathogenic factor.