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1008 Letters cornification. Despite genetic and molecular advances, diagnosis can be difficult. X-linked recessive ichthyosis (XLRI) is clinically characterized by graybrown scale on the trunk and extremities. Autosomal recessive congenital ichthyosis (ARCI) is characterized by 2 polar phenotypes, lamellar ichthyosis (LI), with plate-like brown scale, and congenital ichthyosiform erythroderma (CIE), with fine white scale and underlying erythroderma. Eight genes have been identified to cause ARCI, the most common being TGM1 (ARCI-TGM1). Because there are few systematic descriptions of XLRI and ARCI histopathology, we planned to characterize and compare their features.

We systemically evaluated 117 slides from 111 subjects enrolled in the National Registry for Ichthyosis and Related Disorders (Registry) using a standardized scoring sheet for the presence or absence of each feature and a score of severity (1 …