A novel mutation in the 12(R)‐lipoxygenase ( ALOX12B ) gene underlies nonbullous congenital ichthyosiform erythroderma

3 páginas, 1 figura, 1 tabla.Until the 1980s, LI was the term used to describe both LI and NCIE. However, since that time, LI and NCIE have been separated into two distinct clinical disorders.2 Although the classic clinical features of LI and NCIE can be used to distinguish the two disorders, many patients show an intermediate or overlapping phenotype, making the classification of these patients challenging on the basis of clinical findings alone. Patients with LI classically have large, dark plate-like scales involving the entire body surface, toughness of the facial skin leading to ectropion and eclabium, and secondary nail deformity.2 Scarring alopecia is another characteristic of LI, especially at the periphery, because of traction at the hairline. Patients do not usually improve with age although they have a normal life span. In contrast to LI, NCIE is classically characterized by generalized erythema and fine white scales. An affected child is frequently born as a collodion baby.1 Mild ectropion, eclabium or alopecia are common and the palms and soles are hyperkeratotic. In some cases, improvement occurs during childhood and puberty.This study was supported by NIH/NIAMS USPHS grant RO1-AR 47338 (A.M.C.) and the Authority for Research and Development, Hebrew University of Jerusalem (A.Z.).Peer reviewe