Heterogeneity in autosomal recessive ichthyosis. Clinical and biochemical differentiation of lamellar ichthyosis and nonbullous congenital ichthyosiform erythroderma

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Abstract
Nonbullous congenital ichthyosiform erythroderma (CIE) and classic lamellar ichthyosis (LI) can be distinguished by clinical, histopathologic and biochemical findings. Whereas all patients with CIE (n = 12) had fine white scales, they were heterogeneous with respect to degree of erythroderma, ectropion and prognosis. In contrast, all patients with LI (n = 6) had large, dark, platelike scales, severe ectropion that showed no improvement with age and minimal erythroderma. Although the stratum corneum of patients with LI was 2-3 times thicker than that of those with CIE, the latter group demonstrated more acanthosis, parakeratosis, hypergranulosis and less prominent dermal capillaries. Studies of scale-lipid content have indicated biochemical correlates of this clinical heterogeneity. These clinical histologic and biochemical findings provide useful guidelines to differentiate CIE from LI and strongly suggest that autosomal recessive primary ichthyosis comprises 2 distinct diseases.